Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consider This

Turn on the Thinking Cap

UPDATE on 2/13/2012: This is no longer theory as current research supports it. This research has yet to be published. First read my theory below and then I will provide the proof.

This theory is born out of wondering why some women are experiencing recurrent pregnancy loss, have had all sorts of laboratory and physical tests done yet the only thing that shows up is a heterozygous A1298C MTHFR mutation OR a heterozygous C677T mutation along with a normal homocysteine level.

What do women typically hear as recommendations when having heterozygous MTHFR mutations along with normal homocysteine levels?

We don’t see risk associated with heterozygous MTHFR mutations when homocysteine levels are fine. Heterozygous A1298C (or C677T) is a mild and common mutation seen in the population. No treatment is necessary.

Researchers, geneticists and doctors do not appear to be considering the fact that a developing baby is made from two sets of genes:

The Mother’s AND The Father’s MTHFR Genes and the Odds of Inheritance:

DIAGRAM SHOWING INCREASED RISK TO FETUS FROM FATHER'S MTHFR MUTATION

Explanation:

If the mother is heterozygous A1298C and the husband is also carrying a heterozygous A1298C mutation – then the likelihood of baby having two copies of A1298C mutations exists.

In fact, the likelihood is at least 25% that baby can be homozygous A1298C.

Let’s look at another scenario:

Mother has a heterozygous A1298C mutation and father has a heterozygous C677T mutation.

The likelihood that the developing baby has a compound heterozygous mutation is at least a 25% reality.

Compound heterozygous MTHFR mutation is also not great to have as the MTHFR mutation has significantly reduced function. The function of the MTHFR gene is at 50% capacity when one has a heterozygous A1298C mutation and a heterozygous C677T mutation.

I’m not going to begin explaining the reality of a homozygous A1298C or homozygous C677T father.

Research does state this:

…combined MTHFR mutations likely carry a selective disadvantage and contribute to decreased fetal viability, especially during times of folate insufficiency…. This study provides evidence that the combined effects of multiple mutations on phenotype, particularly in the case of common polymorphisms, are not restricted to intergenic interactions. The recognition that combined MTHFR genotypes may influence pregnancy outcomes further demonstrates both the clinical significance of this gene and the potential protective role of folate sufficiency.[1]

That said, it is best to proactively treat for MTHFR mutations in all its forms because the baby may carry more than just the mother’s MTHFR mutation – but the father’s MTHFR mutation as well.

Doctors must test the future father’s genes for MTHFR mutations and understand the potential risk to developing baby. Then take the necessary precautions for the woman (and baby) by supplementing or prescribing properly.

Doesn’t this explain why so many women with heterozygous MTHFR mutations still miscarry – at least in part?

Obviously there can be other causes here as well for miscarriage – but let’s keep it focused to MTHFR.

My take on how to address MTHFR mutations and pregnancy:

  1. Future mother: Get tested for MTHFR mutations
  2. Future father: Get tested for MTHFR mutations
  3. Future mother: Get tested for MMA, S-adenosylhomocysteine and homocysteine (only focusing on MTHFR here. Obviously other testing and physicals need to be done).
  4. Take appropriate action to ensure a safer pregnancy.

Please do comment – doctors, geneticists, women, men and all in between.

I need feedback.

What I actually need is research done on this very subject.

UPDATE on 2/13/2012: I found the research and it is not yet even published – it is that new.

Results of the study:

The overall, heterozygous and/or homozygous point mutations in FVL – FVR2, ApoE2, PAI-1, MTHFR C677T – A1298C, and ACE genes were associated with recurrent pregnancy loss (RPL). There was no meaningful association between RPL and other studied genes.

Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations. [2]

Take Home Message:

If you have recurrent pregnancy loss or are considering becoming pregnant, then I highly recommend you ask your doctor to test you AND your partner for the genes:

  • FVL – FVL2
  • ApoE2
  • PAI-1
  • ACE
  • MTHFR

The research by Ozdemir proves the point that genetics from the father and mother must be considered in recurrent pregnancy loss.

Whether heterozygous MTHFR by itself causes recurrent pregnancy loss is still to be debated; however, when combined with the above mutations, the effect is clear.

I need you to Tweet, Share, Like, Email, Print, Post on Forums – do everything you can think of to get this article in the hands of those who need to read it.

This article can save the lives of babies every year. Add the ability of helping potential parents avoid the devastating loss of their baby.

Health care needs to be more aware of prevention. This is a classic example why.

Resources:

[1] Isatolo et al, Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations, American Journal of Human Genetics

[2] Ozdemir et al, Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations, Genetic Testing and Molecular Biomarkers

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143 Responses to “Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consider This”

  1. Narelle September 26, 2011 at 12:09 am # Reply

    Interesting…i agree the paternal input is underrated. I am compound hetero mthfr and got thru 2 pregnancies and no miscarriage, from all that I read this is a miracle! That is not to say they were not without issues, I did have a suspected PE at 38 weeks with number 2. Both kids have a single copy of the mutation, my daughter 1298 and son 677…..
    There father has whilst not tested to my knowledge has absolutely no indication of any mthfr mutation and is a picture of good health. I absolutely believe if he also contributed to the genetic pool with a mutation the outcomes would have been very different based on what i am learning.

    • Lovefam6 February 26, 2013 at 10:01 am # Reply

      I had three healthy pregnancies followed by two miscarriages. I also am compound heterozygous A1298C and C677T. I had zero issues with my first three babies, and didn’t find out about the Mthfr dx until after my second miscarriage. I feel like there has to be another correlating factor here. Maybe not, maybe we both are medical marvels graced by God ;)

    • Deals Virgo July 31, 2014 at 2:58 pm # Reply

      Congratulations on having successful pregnancy.

  2. Jamie October 3, 2011 at 5:36 am # Reply

    I am a 33 year old mother of two small children, ages 4 and 1. I had my daughter when I was 29 but I first became pregnant when I was 19. I miscarried and had four more miscarriages after. None of the doctors that I saw tried to find out why I had so many and what I could do to prevent it from happening again. When I was 28 and became pregnant with my daughter, the new doctor that I began seeing decided to have me tested for everything he could think of. At the lab, they took 19 viles of blood from me. When I returned to the doctor, he told me that they had only found one thing, MTHFR. He then referred me to a Neonatal Specialist who prescribed me extra folic acid to be taken daily as well as baby aspirin, also daily. From there on out, I was closely monitored on a monthly basis by both my ob/gyn and my Neonatal specialist to ensure the safety of both me and me and my baby.

    • Dr Ben October 3, 2011 at 6:02 am # Reply

      Jamie –

      I am glad you found a neonatal specialist who was able to care well for you and your daughter.

      What MTHFR mutations do you have?

      Your husband?

      Have you tested your daughter for MTHFR?

      Are you still undergoing treatment for MTHFR?

      In health,
      Dr Ben

    • Kristin February 2, 2012 at 6:58 am # Reply

      @jamie; I have a very similar story. I have had 5 miscarriages and a still born(7-8months along) I am pregnant again(7weeks 1 day) at age 29 soon to be 30. My doctor has tested me for everything he was the only doctor to find out that I am hetero MTHFR C677T( I have had a lot of doctors, this one has been the best). They have me on extra folic acid(about 2.6 ml) 1 baby aspirin, 1 injection of lovenox(blood thinner) that is inserted in my stomach everyday, progesterone gel 1x/day, along with B vitamins, omega 3 fish oil, oh not to mention prenatals. My husband has not been tested(thanks Dr. Ben for the info on that) this will be the first time I will get a specialist, who is suppose to be the best in my area. How much folic acid did you take? Did you go on bed rest? I work a lot, and I work with children with Autism which means it is a high demand job. Any suggestions from anyone that has had experience with this? I’m not sure what to do?

      • Dr Ben February 2, 2012 at 7:56 am # Reply

        Kristin –

        I recommend you talk with your doctors about switching from standard folic acid to methylcobalamin and methylfolate – a blend. Standard folic acid is going to ‘work’ but not nearly as effectively as the methylcobalamin and methylfolate blend.

  3. Jessica October 24, 2011 at 7:01 pm # Reply

    I have been tested for everything. I’d say close to 40 tubes of blood have been drawn in an effort to learn the cause behind my 23 week and 14 week losses. I have three little children at home. My losses started two years after my third child was born, I was 35. The only test that came up positive was MTHFR. I am homozygous a1298c. I have been told that this is not the cause of my losses. In fact I’ve even had a perinatologist tell me that my 14 week loss was a common miscarriage. The more I read, in particular your article, I find that MTHFR could in fact be the cause of my losses. I am newly pregnant again. This is my last try to add to my family. I am on what’s called the kitchen sink plan. 40mg lovenox once daily, crinone once daily, deplin 7.5mg, baby aspirin, folgard, and prenatal vitamins. I am currently 5 weeks. I worry that this plan won’t work, that the real cause of my losses has not been discovered yet. I worry that I’m not on enough lovenox. I worry that I’m not on the right type of folate. I worry that I won’t get enough monitoring. I guess my question to you is, does the deplin and the folgard cover all my folate needs? Do you think I have a good chance at a positive outcome with the deplin, folgard and lovenox? Thank you for posting the article. It’s nice to a medical professional take MTHFR seriously.

    • Dr Ben October 25, 2011 at 6:50 am # Reply

      Jessica –

      I think you may be taking too much folate.

      Too much is not going to solve anything – it could be harmful.

      Folguard does not contain effective forms of nutrients. I do not like people using it. I prefer MetanX or HomocysteX.

      Deplin is potent active folate but it is only active folate which is not enough.

      Lowering the amount of fibrin may prove useful as well. This can be done by using a fermented extract called nattokinase. Flow Fx contains nattokinase. Consider taking 1 capsule of Flow Fx in the AM and one capsule in the PM. Make sure it is ok with your doctors as Flow Fx thins the blood. They may need to adjust the Lovenox and baby aspirin dose – and likely so.

      There is a comment somewhere on here that a woman used Lovenox, baby aspirin and she still miscarried a couple times. It wasn’t until she added nattokinase did she carry to full term. Coincidence? Perhaps. Worth a shot? In my book, yes.

      A quality prenatal, EPA/DHA, probiotic, nutrition and lifestyle are all critical as well.

      I highly recommend you schedule a 30 minute consult with me so we can get into detail and specific to your situation.

      Homozygous A1298C can be pretty intense depending on the individual.

      I also wonder what MTHFR mutations your husband/partner may have – if any. If he has one or more mutations, then the likelihood of your fetus having a potentially severe MTHFR mutation is increased.

      A lot to discuss! ;)

      There is a lot of room to improve here and that is what I’d like to do – simply increase the odds of a healthy outcome. I cannot guarantee anything – I am not a miracle worker – but I certainly can help direct you to calmer and safer waters which are critical to a developing little one.

      In health,
      Dr Ben

    • Kristin February 2, 2012 at 7:03 am # Reply

      @Jessica Wow these stories sound like mine the more I read your stories the more I write back. that is almost exactly my story. but what is deplin? what is its purpose? I wrote to the previous person “I have had 5 miscarriages and a still born(7-8months along) I am pregnant again(7weeks 1 day) at age 29 soon to be 30. My doctor has tested me for everything he was the only doctor to find out that I am hetero MTHFR C677T( I have had a lot of doctors, this one has been the best). They have me on extra folic acid(about 2.6 ml) 1 baby aspirin, 1 injection of lovenox(blood thinner) that is inserted in my stomach everyday, progesterone gel 1x/day, along with B vitamins, omega 3 fish oil, oh not to mention prenatals. My husband has not been tested(thanks Dr. Ben for the info on that) this will be the first time I will get a specialist, who is suppose to be the best in my area. How much folic acid did you take? Did you go on bed rest? I work a lot, and I work with children with Autism which means it is a high demand job. Any suggestions from anyone that has had experience with this? I’m not sure what to do?” I would love to hear back from you.

      • Dr Ben February 2, 2012 at 7:58 am # Reply

        Kristin – Deplin is very high dose methylfolate and only methylfolate. I do not approve of it unless it is for those with serious depression. I don’t agree that only methylfolate should be taken – I believe that other nutrients must be taken as well – especially as B vitamins work together in numerous biochemical pathways.

        There is no one snake oil.

        • Kristin February 5, 2012 at 7:26 pm # Reply

          thank you for all your responses. This site has changed my thinking, and has been a blessing. The insurance company has to approve the 40 mg lovenox off brand which should be this Monday(tomorrow) but is that enough 1x daily. I wonder if taking Neevo DHA 1x/daily, baby aspirin 1x/daily, omega DHA oil(2teaspoons/daily), folguard 1x/daily,,folic acid(1.6), along with critone 8% everynight is enough. I’ve had 5 miscarriages all under 11 weeks, and my first child was a stillborn at 24weeks which makes 6. I found out I had the hetero MTHFR C677T and nothing else, (husband will soon be tested) during the last pregnancy and took the same amount of lovenox, baby aspirin and folic acid only and miscarried at 11 weeks. Over 2 years later I am pregnant going on 8 weeks on Tuesday(2days). What do you think?

          • Dr Ben February 5, 2012 at 10:14 pm #

            Kristin –

            Given your miscarriages so early makes me think your progesterone levels are low. I am not sure if you are taking enough Critone or if your estrogen levels are just too high due to xenoestrogens or some other factors going on. The single heterozygous MTHFR mutation is playing a role but there is likely something else.

            Thyroid?

            Folgard is not sufficient. I recommend you consider Metanx as it has effective forms of methylfolate, methylcobalamin and pyridoxal-5-phosphate. The Folgard has very inferior ingredients.

            I’d also get on CoQ10 – at least 50 mg a day and probiotics.

            Please read the Prenatal article I wrote.
            http://mthfr.net/prenatal-supplementation-optimizing-your-future-child/2012/01/20/

          • Kristin February 6, 2012 at 5:58 am #

            Thanks again where can I get is there a special type I should get? My thyroid at one point seemed enlarged I’m not sure what that meant. Lovenox off brand 1x at 40mg is that enough?

          • Dr Ben February 7, 2012 at 1:01 am #

            Kristin –
            Enlarged thyroid may be iodine deficiency or hypothyroidism or both. You need to have an integrative doctor evaluate your thyroid properly as many doctors do not evaluate it properly – not even close.

            I’m not sure which amount of Lovenox is appropriate. Doctors have evaluate specific markers in your blood in order to determine optimal dosage.

            Metanx is prescription-only.

            You may consider HomocysteX and start with 1 capsule twice a day without food. >HomocysteX uses the same nutrients as Metanx – just less potent per capsule allowing you to adjust to your optimum level. HomocysteX is also very pure – without additives, colors, etc.

          • Kristin February 6, 2012 at 5:59 am #

            I meant to say where can I get Metanx and what type.

  4. Lisa October 30, 2011 at 10:07 am # Reply

    Hi Dr. Ben..first I want to say thank you for creating this web site, its great to finally see so much information on this issue!! I myself have MTHFR C677T homozygos, I have had 3 misscariges and my homocystiene levels have always been normal. My husband and I are ttc again and the OB that I have seen has only put me on baby asprin and 4mg of folic acid, which I know is pointless. He pretty much thinks MTHFR is no big deal, this is more than frustrating and would like the proper treatment to avoid another loss, I also wasnt diagnosed with MTHFR until my 3rd misscarage and my husband hasent been tested yet but that something were definatley going to do…any suggestions would be a great help!

    • Dr Ben November 1, 2011 at 6:07 am # Reply

      Hi Lisa –

      I am sorry to hear about your losses – three of them. That must be very difficult. I’d love to help you stop it at three.

      I am happy to provide information via a one-on-one consult. While a homozygous C677T MTHFR mutation is fairly common, suggestions for supplementation and lifestyle changes vary from person to person. In order to provide more effective information that is useful, I find the consults the only way.

      The more I learn about MTHFR, the more I learn that there is no ‘one size fits all’ technique. If you find a doctor that approaches MTHFR this way, I seriously do not agree with their approach.

      There are also other reasons for miscarriages – beyond MTHFR – however, homozygous C677T is a serious issue that must be dealt with. You are absolutely right – folic acid is worthless and you likely need more than baby aspirin.

      I am available for consults on a limited basis. My online scheduler shows which times are available.

      You may obtain consult minutes here as well as schedule an appointment.

      As a father of three young boys and passionate about disease prevention and health promotion, I’ve spent the last few years learning how to optimize pregnancies as much as possible. My goal is to help men and women have as healthy a newborn child as possible.

      I’d love to help you do all you can to increase those odds.

      Best,
      Dr Ben

  5. Jessica November 2, 2011 at 3:34 pm # Reply

    A year and a half ago I suffered a miscarriage losing our little girl at 20 weeks. I had no problems with our first child, another girl other than gestational diabetes and a mild case of phlebitis post delivery. After our “angel” was taken from us, it was discovered that I had superficial clotting in both legs… with insufficient flow. However, for the past year that seems to have resolved itself. I took it upon myself to go to a hematologist and get further evaluated as thingsn did not seem to add up. I was diagnosed wiht being compound heterozygous mthfr. My doctors seem to only be concerned if I were to become pregnant again and said that then I would take a baby aspirin and be fine. They also did not seem concerned or suggest any treatment for when I am not TTC or if we were done having children, etc. What concerns me is that out of the several medical professionals that I have seen, no one seems very concerned sinc emy homocystein levels were fine… I’m not sure if I have just become untrusting or if I am looking too far into this. Please advise.

    • Dr Ben November 3, 2011 at 7:24 am # Reply

      Jessica –

      There has been research published on MTHFR stating that if homocysteine levels are fine or if they reduce with folic acid, that MTHFR mutations are not worth doing anything about.

      This is the problem.

      If doctors read the countless other research articles on MTHFR mutations, they will understand that a few studies saying ‘no big deal’ are not in the majority.

      I also want to point out the fact that you do not want to put all the blame on MTHFR as there are other causes of miscarriage. These must be ruled out – and ruled in.

      I had a consult with a woman today who insisted that her miscarriages were due to her compound heterozygous MTHFR mutation – which is quite serious. Her miscarriage could have been caused by that – you bet. However, she also has hypothyroidism, low progesterone and elevated estrogen (PCOS) – and is underweight.

      So it is my job – as a physician – to look at things from all angles and not with blinders.

      During medical school, I was in clinical training and my professor said a weakness of mine was narrowing my focus too quickly. He was right. I’ve since learned that I cannot do this – and while I run this website dedicated to MTHFR mutations, I still truly look at all other possibilities. Honest! :)

      I would enjoy the opportunity to work with you for 30 to 45 minutes initially to discuss your situation and improve it.

      You have the compound heterozygous MTHFR mutation which is no small deal. If you do not take the proper nutrients and perhaps medications, your pregnancy will be at risk again.

      Taking just a baby aspirin is FAR from fine. That is not even close to what you need to be taking in order to assure a healthy pregnancy.

      Where do doctors come off with saying comments like this?

      Don’t they recall how complex embryology is? I recall studying embryology in med school while my wife was pregnant with our first son. It freaked me out. All I envisioned was all the complexities and how easy it is for something to go wrong – yet most of the time nothing does. To me, that is amazing.

      However, we MUST respect this process of human development and support it fully from all angles – regardless if one has a MTHFR mutation or not.

      I’m here wanting to help. Should you desire my assistance and expertise here, please schedule an initial consult of 30 to 45 minutes. If you want to start with 15 minutes and ‘check me out’ and how I work, you may do that as well. We can continue the consult from there and charge additional at the completion or we can stop and you can either schedule another consult later or stop there.

      You may obtain consult minutes here along with scheduling a time which works well for your schedule.

      I urge you to test your husband/partner as well for MTHFR mutations. If you are compound heterozygous MTHFR and he has one or more MTHFR mutations, your baby is at increased risk. We can reduce that risk by supplying your husband with needed nutrients as well.

      In health,
      Dr Ben

  6. Jenevra November 19, 2011 at 2:44 am # Reply

    Hi, i have had 6 miscarriages….3 in 2nd trimester….i was jus told that i was positive for heterozygous (MTHFR) and prolonged clotting…is this something that can be treated..i have no children..but would like to..

    Thanks

    • Dr Ben November 19, 2011 at 6:32 am # Reply

      Hi Jenevra –

      I am sorry to hear that.

      Which MTHFR mutation you have? 1298 or 677?

      I assume 677?

      What have your doctors done so far? What have they done for your previous 3? What were you taking?

      Have they tested you for antiphospolipid syndrome? Cardiolipin? Hormone levels?

  7. Krista November 23, 2011 at 6:30 am # Reply

    I am desperately seeking information regarding mutations of the A1298C gene. I tested heterozygous for this gene and have been almost unable to find any information on how this would effect someone who is NOT pregnant. (No offense to anyone who has suffered due to this mutation during a pregnancy) I currently have one child and do not plan on any others. I just want to know if some of the mysterious symptoms I have been experiencing most of my life are of any relation, and what I should do about it. I have had numerous blood & diagnostic tests and this is one of the only ones to come back positive. My RF was slightly elevates and for some unknown reason my calcium is up and down. Any info, articles etc. would be greatly appreciated.

    • Dr Ben November 23, 2011 at 8:23 am # Reply

      Krista –

      I am working on an article now about the A1298 MTHFR mutation. I hope it will be done tomorrow – it is entry level but is more than what is out there currently.

      To reassure you, heterozygous A1298C MTHFR mutation is quite mild from what I am experiencing from others and from the literature. However, it doesn’t mean that you do nothing about it. There could be compounding mutations, lifestyle, environmental exposures and life stressors which may exacerbate the single A1298C mutation effects.

      What I am also noticing is that many people see that they test positive for 1 copy of the MTHFR mutation and put all their eggs into that basket hoping that may be the reason for their unexplained symptoms. Sometimes yes – but most of the time – not.

      I am thinking it best for you to schedule a consult as I feel other things are contributing to your symptoms. Lab tests are not always the answer and many times incorrect or incomplete lab tests are ordered.

      You can get better – I’ve seen it over and over again.

  8. MTHFR Aussie Woman November 25, 2011 at 10:38 am # Reply

    Hi,

    My doctor believes that the MTHFR defect means that the body can convert little folate into its active form, folinic acid. This, he believes, can cause miscarriage too. I take folinic acid as a supplement every day.

    Thanks.

    • Dr Ben November 26, 2011 at 7:15 am # Reply

      Hello –

      I agree with your doctor that MTHFR can cause miscarriages – absolutely.

      MTHFR enzyme though does not convert folate to folinic acid.

      The MTHFR enzyme converts the 5-10-MTHF (5-10-methylene tetrahydrofolate) to 5-MTHF (5-methyl-tetrahydrofolate) which is the most active form and final end stage form as well.

      I highly recommend you consider informing your doctor to switch you to the L-5-MTHF form of folate (also known as 5-MTHF or Metafolin).

      Folinic acid is a more active form of folate but it is not the most active form and it definitely cannot get past the MTHFR enzyme defect very well – only a small percentage.

  9. Megan November 29, 2011 at 2:53 am # Reply

    Hey Dr. Ben,

    It was nice to find your website! I’ve been working with Shady Grove Fertility for almost a year now and I feel like we’re finally getting somewhere and you may be the final touch!

    After trying for almost 2 years I had a surgery and was finally able to conceive. Unfortunately my first 2 pregnancies (although they happened the first month of trying) have both come to an end. After doing some blood tests they found that not only do I have the MTHFR mutation, I have both strands- C677T & A12988C.

    Right now my doctor has me taking the Pre-natal Vitamin called Neevo. Any thoughts on the matter? I’d be interested to hear what you think.

    • Dr Ben November 29, 2011 at 9:17 pm # Reply

      Hi Megan –

      I am glad you found out you have the compound heterozygous MTHFR mutation. That is a big help.

      Compound heterozygous is a complex MTHFR mutation and requires some sleuthing.

      I do not recommend getting pregnant right now – not until you get a full program going.

      Neevo is decent but it not nearly enough.

      Those with compound heterozygous MTHFR have other risk factors that must be addressed – such as clotting, low nitric oxide, heavy metal toxicity, low methylation, and others. These are all massively important factors which must be addressed.

      I highly recommend you schedule a consult so we can get you on the right track.

      There is just too much to discuss here.

      I understand you may be wanting to get pregnant right away again – or you may already be. If you are not, it gives us more flexibility.

      In the meantime, I highly recommend you test your husband/partner for MTHFR mutations as well. Read this article I wrote about paternal testing for MTHFR mutations.

      While Neevo contains active folate, I believe you need much more than that. This we can discuss when I learn more about your diet, lifestyle, and history.

      There is nothing better than helping guide a future mother. I would love to see you a photo of you, your partner and your new baby. I believe it possible – just need to increase the odds and make the right adjustments.

      • Lisa W September 6, 2012 at 4:31 pm # Reply

        Hi Dr. Ben,
        I have the same issues as Megan. I am compound heterozygous and my homocystein levels were normal. That being said, the tests that were done which came back with this conclusion were performed in the midsts of when I thought I was miscarrying my 5th time, however, it turned out to be an ectopic pregnancy that time. I have since been pregnant again and the dr sugguested to take an extra 400 mcg of folic acid on top of my prenatal. I went to my 12 wks appt and there was not a heartbeart. I did not know anything about MTHFR and was satisfied with the answer my doctor gave me about the folic acid. I have now become more proactive about this myself and have been searching the web for answers, things to talk about with my OB, etc. I must say reading all of the risks scares the crap out of me.

        With this last pregnancy ending around 12 wks. I have asked to be referred to a specialist, I mentioned either a hemotologist and/or a genetics counselor. I went to the hemotologist yesterday. He is having all of my testings re-done bc he said there could be a posisbility that one of the tests would be different because I was pregnant then. He is also testing for a few other things which weren’t not done initially.
        From what I’ve read on here I need to be taking L-5-MTHF, methylocabalamin, and Vitamin B6. Do these all need to be a prescribed med or can I take, for instance, over-the-counter Vitamin B6? Also, should I be taking these even if I’m not pregnant?

        Also, I have not had my husband get tested yet, but that is one of our next steps also especially for if we decided to try again to have a baby. We have one child. She is almost 4. I did not know I had MTHFR when pregnant with her. I believe all that I took with her pregnancy is a prenatal and extra B6 otc, but I cannot remember if I took the B6 the whole pregnancy or not.

        I want to try to have another baby again so our child has a sibiling, however, I’m not willing to risk my life to do so espeically because we have a daughter. All of the info on MTHFR is SO overwhelming. My OB had said that I don’t have to worry about a blood clotting condition becase my homocystein level was normal even though I have the compound hetro MTHFR, but then I read something on the web and I feel I still have to worry about it, on top of many other issues.

        Needless to say, I hope that you have more to say on here about the compound hetero MTHFR.

  10. Amy December 15, 2011 at 3:28 am # Reply

    Thank you for the information and webiste. It is very informative. I am homozygous for the c677t mutation and my husband and I are planning on ttc soon. I had an appointment with mfm but they called and told me it was a waste of their time to meet with me since I have not had any other miscarriages and this was not severe enough for them to see me. I was just wondering what your thoughts were regarding the mutation I have and the severity of it. I am still attempting to find a doctor that believes this is a concern. Thanks for your advice and information.

    • Dr Ben December 15, 2011 at 6:18 am # Reply

      Amy –

      Homozygous C677T MTHFR mutation is serious –

      If you try to conceive, the likelihood of miscarriage is very high if you are not proactive and address the MTHFR mutation.

      You can try to find a doctor here that knowledgeable about MTHFR and is near you:
      http://www.Naturopathic.org
      http://www.FunctionalMedicine.org
      http://www.AAEMOnline.org

      If you cannot find a doc knowledgeable, I can give you some information over a consult about how to prepare.

      I recommend you consider getting on HomocysteX right now as it is designed to support healthy homocysteine levels and increase blood levels of methylfolate – which you are seriously deficient in.

      There are other things to supplement with besides HomocysteX – a quality multivitamin that uses methylfolate, 6,000 IU a day of vitamin D3, potent amounts of EPA/DHA, probiotic that contains multiple strains and 25 billion bacteria per serving, 50 mg of CoQ10 as ubiquinol and perhaps nattokinase to reduce fibrin levels which are the building blocks of blood clotting.

      If you become pregnant, it is a must that you work with your doctor and discuss appropriate blood thinners such as Lovenox and baby aspirin. Taking nattokinase instead of these has not been proven in research so I don’t recommend. I do know of a woman who finally carried to term after trying everything. She used 100 mg of nattokinase twice a day. The Lovenox and aspirin did not work for her. Fluke? Not sure because not enough people to prove or disprove. If you get on Lovenox or aspirin, you will have to stop Flow Fx or your nattokinase supplement. You cannot take both.

      • Amy January 10, 2012 at 2:47 am # Reply

        Thanks for the information you provided. I am still working on finding a doctor in my area that thinks this is something to be concerned about which is very frustrating. I was wondering if you could clarify a few things for me. As I stated earlier I am homozygous for the c677T mutations with a double copy of c677t. Many doctors I spoke with do not feel this is serious. I know you mentioned in your post that it was. Does having a double copy make it not as serious? I just can’t believe how many doctors want me to “try and see” what happens with a pregnancy before they will do anything. Thanks again for all your research and support on your site.

        • Dr Ben January 10, 2012 at 6:01 am # Reply

          Amy –

          Homozygous C677T MTHFR mutation is serious – very serious.

          You cannot ‘wait and see’ with a homozygous MTHFR mutation. There is no time and risking a life is not something a doctor should take lightly.

          You need to get on Metanx or something similar immediately along with CoQ10, Fish Oil, Krill Oil, Vitamin D3, Probiotic, Multivitamin/Multimineral and (Lovenox during pregnancy.)

  11. Angela December 29, 2011 at 12:22 am # Reply

    I am a 43 year old female no children (never attempted). I was diagnosed with B-12 deficiency, high homocysteine and CRP of 4 about 13 years ago. I was put on monthly B-12 shots. This diagnosis occurred with a rheumatologist after experiencing severe fatigue, fibromyalgia, insomnia, reynauds etc. I also have ADD (inattentive type)
    About 10 years ago I developed an SPV after a long flight with subsequent painful phlebitis that would not heal. I was referred to hematologist, put on Coumadin. Additional tests revealed MTHFR mutation (Heterozygous). He added Folate and high doses of B6. He later put me on baby aspirin daily. My father’s family is FULL of heart disease. No one seems interested in learning about this disease as it seems confusing to them. I just tell them to make sure to take folate. My father has battled severe heart disease and vascular calcification all his life. There is still question whether I want to have children. I havent seen my hematologist in many, many years. He did suggest I see a genetic counselor of I plan to have children. Should I even go through trying to have a child? Are the risks of blood clot high for me? Does it mean I can put my child at risk for a life of pain, heart disease? Thank you for a that you are doing! I work in a hospital and few physicians know the MTHFR gene mutation! I’m so glad I found you!

  12. Jessica N January 1, 2012 at 8:06 pm # Reply

    Hello Doc Ben! I am 28 years old and I have experienced 5 miscarriages. My most recent being Feb 25, 2011. Finally after the fifth one my doc decided to send me for genetic testing. The only thing that came back not normal was me being positive with homozygous c677t gene mutation. My partner does not have either strand. We have decided to start trying to conceive but fear another loss. I have spoke to my doc (who is not concerned about my gene mutation) has instructed me to take baby aspirin and a prenatal at least a month before trying. I have been on my prenatal and baby aspirin now for three months, now that it’s a new year my partner and I would like to start trying. I however, can not get my doc to do blood testing again. What could you recommend that could increase our chances of carrying full term? Oh, I forgot to mention my pregnancies have never been past 7 weeks along. I would like to thank you for your focus on these mutations and knowledge of information, as my only response for treatment was “40% of all women are affected by it, take a baby aspirin each day” I feel as though a simple baby aspirin is not the answer. Are you doing any clinical research? I would be interested in the information you acquire in your studies. Thank you.

    • Dr Ben January 3, 2012 at 12:05 am # Reply

      Jessica –

      I commend you for actively seeking out information. You are right. Taking aspirin and a prenatal is not enough – not even close.

      Without further changes, I believe the likelihood of another miscarriage is quite great.

      Which prenatal you taking? If it does not have methylfolate in it, it is worthless for you.

      I encourage you to wait another 3 months while you work on actively addressing your MTHFR mutation through proper supplement changes and getting the blood levels of nutrients to the levels they need to be before you get pregnant.

      It is not just about blood clots with MTHFR mutations! It is about the inability to make proteins which are produced in massive amounts during pregnancy. It is about processing the inbound toxins from our polluted planet and limiting their effects on your developing child. It is about preventing anemias which if occur, put your baby at risk of inadequate brain development.

      You need to find a doc who IS concerned about your MTHFR mutation. I am sorry to say this but a doctor who is not concerned about a MTHFR mutation – especially when you are trying to conceive – is not in your best interest.

      Look for a physician who knows about MTHFR that is near you on these websites:
      http://www.Naturopathic.org
      http://www.FunctionalMedicine.org
      http://www.AAEMonline.org
      http://www.Orthomolecular.org

      Research is limited on MTHFR but I have seen, read, spoken with many women and many physicians about MTHFR and women with this mutation are miscarrying routinely and over and over again.

      Your progesterone levels are likely low if you are miscarrying at 7 weeks or earlier. They at least need to be evaluated.

      I am not doing clinical research as I don’t have the set up to do it. I do interact often with physicians who are collecting information through the patients with MTHFR.

      There are many things you can do to increase your chances of having a healthy full term baby. At the moment, I do not have enough information written out for you to read. A consult is required for you to obtain this information. I hope to have all this information out within a few months from now but time is of the essence right now for you and I encourage you to set up a one hour consult with me

  13. Rebekah January 1, 2012 at 9:25 pm # Reply

    Hi Dr. Ben.

    I am 24 years old, a mother to 4 children and have had 7 miscarriages. Totaling 11 pregnancies. I don’t drink, smoke or do any drugs. I live a healthy lifestyle.

    I have a double copy of A1298C. I also have Hashimoto’s Hypothyroid and I was positive for Antiphospholipid Antibodies. My Homocysteine levels were normal. I am also a carrier for Cystic Fibrosis Mutation R117H. I’ve had 1 pre-term (live) birth, at 34 weeks due to PROM.

    My question is: We got the results back for all of this in Jan of 2011. I got a positive pregnancy test soon after the results and never met with my RE to discuss the results. She simply put me on what she thought I needed and treated me as a pregnant patient. I never got to ask her if this was life-long or threatening to my children and if they needed testing. Should I consult with someone about this further, or is it of any concern if I’m not TTC/pregnant? I never officially got any answers regarding my miscarriages and I guess in my heart I’m still seeking them even after getting all of those results.

    • Dr Ben January 2, 2012 at 11:50 pm # Reply

      Hi Rebekah –

      If you have a double copy of A1298C, then you need to address it. You having Hashimoto’s thyroiditis is classic with A1298C as you are deficient in the production of tyrosine due to a defect in the production of tetrahydrobiopterin.

      You need to be taking some form of biopterin or focusing on increasing the levels because the A1298C MTHFR mutation is blocking the production of biopterin in a potentially big way.

      I recommend testing your child’s father for MTHFR mutations. If he tests positive for any MTHFR mutations, then testing your child should also be tested.

      I know your child has at least one copy of A1298C MTHFR mutation – and he/she may have an additional one from the father. One copy of A1298C needs to be addressed as well – simply through understanding the limitations it provides and working through those biochemical limitations with proper lifestyle and dietary choices along with supplementation.

      First thing – avoid gluten – completely.

      Second – get your vitamin D3 levels up to about 50 to 65 and get on probiotics.

      These help heal your digestive system which I know is faulty because you have an autoimmune disease. Autoimmune disease is directly linked to leaky gut syndrome, gluten and low vitamin D3.

      Homocysteine levels may be normal but are your peroxynitrite levels? Ammonia levels? These are also very dangerous to developing babies – and to you. These are often elevated in those with A1298C.

      Do read this article on lab testing for MTHFR mutations. For you, the Neopterin/Biopterin levels should be checked.

      • Rebekah January 9, 2012 at 1:46 pm # Reply

        Thank you for getting back with me. I spoke to my GP last week and he is referring me to a specialist who can deal with our whole family.

        I’ve begun to avoid gluten for both me and my children.

        I am currently breastfeeding my 3 month old. Is there anything I can take outside of my daily vitamin until I see the specialist? I want to make sure I’m getting what I need and I don’t want to wait several more months to begin.

        Thank for all you do in sharing what you know and responding to so many questions. I wish more doctors were as knowledgeable about this.

  14. Jane January 5, 2012 at 8:36 pm # Reply

    Hi. I just had my third miscarriage and I had a lot of blood tests and ultrasounds. My tests came back as heterozygous for mthfr mutations for c677t, with normal homocysteine levels. Everything else is absolutely normal. I am 26 years old and in excellent health otherwise. Do you think this mutation may be the culprit? What should I do to prevent miscarriage in the future? I have no living children and would very much like to have some. Also, is it strange that other than heavy periods and these misscarriages, I have had no other symptoms related to mthfr?

    • Dr Ben January 6, 2012 at 2:56 am # Reply

      Hi Jane –

      Having heavy periods is a sign of hormone imbalance and that can be tied to miscarriages. You may have elevated estrogen and low progesterone. You may have fibroids, PCOS or…

      A heterozygous C677T MTHFR mutation is worth noting for miscarriages and needs to be addressed – but I do not think that is the only issue here.

      Definitely need to address your heavy menses and the MTHFR appropriately.

      • Jane January 6, 2012 at 3:08 am # Reply

        Thanks for your response. I do not have fibroids, polyps, or PCOS. I was tested. Heavy periods run in my family, but miscarriages do not. Although my periods are heavier than the average woman, they still fit in the upper range of “normal”. My doctor doesn’t seem to think that low progesterone could be the culprit. However, I will try to look into any type of hormonal imbalance.

        Do you recommend taking homocystex for the mthfr mutation? If so, in what dosage? Should I start before conceiving? Is it safe?

        • Dr Ben January 6, 2012 at 7:38 am # Reply

          Hi Jane –

          I recommend you consider taking Slow Flow by Vitanica. Take one capsule daily and then when menses begin, take 3 capsules every three hours during heavy flow. Up to six capsules may be taken daily for longer term management. One capsule may be taken daily long term. This is an excellent formulation for those with heavy menses.

          I would start with 1 capsule of HomocysteX in the morning upon rising and try this for a few days. If you feel great, then take one capsule in the AM and one in the afternoon – around 1 pm or so – away from food. This should be enough for you.

          You should start it now – yes – it is safe.

          Once you get pregnant, stop HomocysteX and switch to Sublingual Active with Methylfolate.

          There are other things to help prepare you as well which will help prepare your body nutritionally.
          Optimal Multivitamin: 3 capsules with breakfast, 3 with lunch and 2 around 2 pm or so
          Active CoQ10: 1 capsule daily
          Optimal Fish Oil: 2 capsules with dinner
          Vitamin D3: 3 drops daily to provide 6,000 IU a day. Measure your vitamin D3 levels after 3 months with your doctor.
          Bone Nutrients: two capsules at lunch and two capsules at dinner time to provide solid bone support along with calcium and magnesium.
          ProBiota 12: provides 50 billion beneficial bacteria in 12 strains. Take one after dinner nightly now and throughout pregnancy. Lot of research shows significant benefits to the newborn child in mothers who take probiotics throughout pregnancy.

          If you are iron deficient from heavy menses, Optimal Iron Plus Cofactors will help greatly reduce the iron deficiency anemia and may be taken throughout pregnancy. It is very well tolerated and well absorbed.

          If you have clotting during your menses, the HomocysteX should help with this along with the other nutrients.

          Keep me posted.

          • Jane January 6, 2012 at 11:55 am #

            Hi, thanks for responding again!

            I ordered the homocystex and will probably try it to help me achieve a healthy pregnancy.

            However, I still need a few thing clarified.

            First of all, I just wanted to add that the heavy menses is not a problem at all and my iron levels are in great shape. Had them tested. Personally, I want to take as few medications/supplements as possible, given that I feel very healthy. If ever possible, I try to heal medical issues naturally through diet, rest, meditation, etc. From this, I have seen great improvements in my menses and I get sick extremely rarely. I just listed the heavy menses because I thought it might have something to do with the mthfr mutation.

            About the heterozygous mutation–do you think that is enough to cause three miscarriages? They did not find any other problems with me after a lot of testing.

            Also do you think that the homocystex and sublingual active folate are enough for me before and during pregnancy or should I be aggressive with my doctor and ask for metanX (which my insurance does not cover). If it is equally effective, I would personally prefer the homocystex, because it seems more natural. Also, why do you recommend the switch from homocystex to sublingual active folate during pregnancy? Is there something toxic to the baby in homocystex? What type of side effects might I experience from taking homocystex? Could it increase my risk for cancer?

            Finally, out of the list of supplements to support a healthy pregnancy, which do you think is/are most important for someone who eats a healthy diet? That is a whole lot of pills to take and I need to find a treatment that I am comfortable with.

  15. Jane January 8, 2012 at 9:38 pm # Reply

    Dear Dr. Ben,

    I posted a few questions above and I am anxiously awaiting your response. It is so hard to make sense of these heartbreaking miscarriages and understand what I need to do to prevent another from occurring again. It’s been a really tough year and a half. Recently it has been filled with testing and confusing inconclusive information. I know that you must be extremely busy, but if you have a few moments please respond to me.

    Thank you so much

    • Dr Ben January 9, 2012 at 7:26 am # Reply

      Hi Jane –

      A single MTHFR mutation may or may not be enough to cause recurrent miscarriages. This is not what you wanted to hear but it is true. Numerous factors come into play which is why I have recommended the above nutrients to you.

      Eating a healthy diet is excellent along with meditation and the other things you are doing; however, it appears not enough due to recurrent miscarriages. This is where effective supplementation comes into play.

      All the above nutrients I recommend with the exception of Bone Nutrients as you may be able to get enough calcium and magnesium from your diet.

      I recommend not taking HomocysteX during pregnancy as it has TMG in it in amounts that exceed the level I feel comfortable women taking during pregnancy. TMG is ok to take during pregnancy but not in the amounts found in HomocysteX. This is why I recommend the Sublingual Active B12 with Methylfolate.

      A colleague of mine has a high success rate of women with past recurrent miscarriages do very well and retain pregnancies to term while taking 4 mg of methylfolate. The Sublingual Active B12 with Methylfolate has 800 mcg per tablet along with 1 mg of methylcobalamin. I recommend you consider taking 2 Sublingual Active B12 with Methylfolate first thing on rising and 2 more before lunch time. This brings you up to 3200 mcg of Methylfolate. The multivitamin provides an additional 400 mcg bringing it up to 3600 mcg of methylfolate.

      You can take 1 capsule of L-5-MTHF 1000 which provides 1 mg of methylfolate which will bring you up to 4600 mcg of methylfolate which is desired.

      I also recommend a baby aspirin while you are pregnant as well to reduce risk of blood clots affecting the baby.

      Remember also the fact that it is not just your MTHFR mutation that may be affecting baby – but the baby’s father as well. He should be tested for MTHFR now.

      Heavy periods are a problem as they likely denote an imbalance in hormones and are very nutrient depleting. If they still are heavy, addressing it must occur. Excess estrogen or low progresterone are reasons why some women have heavy periods.

      Low progesterone is a common cause of recurrent miscarriages.

      To increase your odds of a successful pregnancy, I highly recommend the above nutrients along with talking with your doctor about properly monitoring your progesterone levels frequently.

  16. Denise Issa January 10, 2012 at 3:48 am # Reply

    Hi Dr. Ben,

    Glad to have found you!

    After 2 failed IVF cycles (transferring chromosomally normal day 5 embryos) and 2 miscarriages I was tested for the MTHFR gene mutation. Tested positive for compound heterozygous mutations in the MTHFR gene. One copy of the C677T mutation and one copy of the A1298C mutation. Not really sure what all of that means. Lol.

    I have been put on MetanX (2 pills a day) and also plan to start baby aspirin in conjunction with IVF #3 starting in a couple weeks.

    Should I be advocating for blood thinners or anything else? What else can I do to be proactive about my care and my much wanted baby?

    Thank you, thank you for any information you can provide.

    • Dr Ben January 10, 2012 at 5:58 am # Reply

      Hi Denise –

      Glad you are taking Metanx and baby aspirin soon. It appears your doctors are taking care of you and your future child.

      Are you responding well to the Metanx? No side effects?

      Baby aspirin is pretty good but Lovenox is likely better. Talk with your doctor about getting put on Lovenox because you do have risk of blood clots with compound heterozygous MTHFR.

      I would also be put on:
      – Comprehensive prenatal with active nutrients
      – CoQ10 – 50 mg a day
      – Probiotic
      – Fish Oil
      – Krill Oil
      – Vitamin D3

      Keep us posted!

  17. Amber January 13, 2012 at 5:32 pm # Reply

    I have had two miscarriages in the last three and a half years and recently found out that I have a double mutation of Homozygous C677T. My OBGYN just wants to give me Neevo DHA gelcaps and that is all. But my sister has exactly the same mutation I do and the Hematologist wants us both to be taking increased levels of Foldic Acid and have anti-coagulant shots. The Hematologist believes my miscarriages were caused from blood clots forming in the uterus. Do you have any suggestions on some medicines that are better than others? I just don’t think the Neevo is going to be enought because it does not have elevated levels of Folic Acid, B6 or B12. Thanks

  18. Melanie February 10, 2012 at 8:46 pm # Reply

    Hello,

    I am currently fed up with fering every day that something is going to happen to me or my baby. I am hoping you can help ease my worries. I am currently 29 years old. I have a history of Hashimotos ANA 1:80. I take synthroid and my levels are normal. I also have chiari malformation which I am sure its not related to any of this. Anyway, this is my first pregnancy. I am currently 21 weeks pregnant. I have seen a Reum. just to re-check my ANA. He did additional testing, blood clotting etc just because I asked. It came up that I am Compound Hetero MTHFR. My families on each side have no history of miscarriages, DVT, PE. However, aneurysms run on both sides (one relative on one side and two on the other). Heart disease does not seem to run in any sides and grandparents are all still living except one (all almost in their 90s). MY parents seem to be in good health and my sister just had her third child. She is 33 years old. I am the only one that seems to have Hashimotos and chiari! OY! Anyway, My protein S levels were also low but was told its common during pregnancy. My homecysteine levels is 4.0. I have seen two NYC top Hematologist and a top MFM doctor. They all stated that I can take baby aspirin and extra folic and thats it. They were not for LOVENOX. They stated because of my family history and this being my first pregnancy that if I start lovenox it can cause me to hemorrage and it isn’t necessary. I am so afraid of losing my baby or even my life. I have been taking the baby aspirin since I was four weeks due to an SCH that dissolved after 12 weeks. What do I do? As five doctors told me to stick to Vitamin D, Folic, and baby aspirin. I also took progesterone for the first 12 weeks of pregnancy but not because it was low, just because of the SCH. Do i push for injections???????????????? I frequently get nose bleeds as it is, so I am not sure if it will make things worse. My clotting times were slightly above normal recently but i am not sure if aspirin will alter it or provide false info. I know this is a lot but I am so afraid to lose my son.

  19. Lesa Stember February 13, 2012 at 10:12 pm # Reply

    Dr. Ben,
    Thanks for all your work with MTHFR. I had two miscarriages and a stillbirth. After the stillbirth, they ran blood panels and found elevated anticardiolipids. I also tested positive for Lupus Anticoagulant. A year later, I successfully gave birth to my son with the use of only baby aspirin (my anticardiolipids remained elevated but just slightly on the baby aspirin). He’s almost 8. A couple of years ago, I saw a fertility specialist about reconnecting my fallopian tubes (I had a tubal during my son’s c-section). The specialist found–for the first time–that I have the MTHFR C677T mutation. My question concerns the link between MTHFR and dementia. My mother is only 63 but is in the end stages of frontal temporal dementia. She’s never been tested for C677T, but since the mutation is genetic, could C677T have caused or contributed to her dementia? What research have you seen or done on the link between the mutation and dementia?
    Thank you!
    Lesa

    • Dr Ben February 14, 2012 at 1:56 am # Reply

      Hi Lesa –

      I have yet to find research supporting dementia or Alzheimer’s to MTHFR.

      However, the indirect link exists because those with dementia are typically low in vitamin B12.

      Then, add on the fact that MTHFR is linked to the inability to methylate effeciently leading to a build up of heavy metals. Heavy metals are linked to dementia.

      Lead is heavily implicated in dementia and high blood pressure. Lead comes out of the bones when woman are lacking vitamin D, K, boron, estrogen and other bone support factors.

  20. Marie February 14, 2012 at 4:16 am # Reply

    I have the heterozygous C677T Mthfr mutation and I’m currently 11wks pregnant farthest I have ever been in a pregnancy . I had 2 previous miscarriages one was a blighted ovum second found out at 8 weeks baby had never progressed past yolk stage. After the last time I was diagnosed with Mthfr, fertility doctor put me on prefera ob and 81mg aspirin daily for life. Once I got pregnant they added 3 extra 1mg folic acid , and I take a crinone 8% (progesterone) but my new Ob is now saying that I shouldn’t take the aspirin because there are studies of higher chances of miscarriage. I am really worried to stop though, since this is the first I’ve been told that it will do worse than good. Really need some advice if possible.

  21. Justine February 15, 2012 at 5:37 pm # Reply

    Hello-

    I have had five miscarriages in the last 2 1/2 years- all were by the 8th week and only once have we seen a heartbeat. Last week I found out I tested positive for c677t (single mutation) and have been discouraged that doctors in both Maternal Fetal Medicine and in Reproductive Endrocrinology feel that this finding in no way could have contributed to any of my miscarriages and that there is nothing I should do differently in light of this new finding. I have tested negative for all other blood clotting disorders and all of my auto-immune and standard genetic tests have been negative, as well. I see an amazing integrative doctor and between her, a hormone specialist, and my acupuncturist, I have been put on the following:

    Prenatal vitamin
    240 mg magnesium-glycinate
    2000 mg vitamin C
    800 i.u. vitamin E
    2000 i.u. vitamin D
    50 mg ubiquinol
    Probiotics
    EPA/DHA
    Methyl Protect
    Pregnancy Prep
    25-50 mg c-progesterone

    And we eat an anti-inflammation diet (no wheat/gluten/dairy/citrus/peanuts/sugar/caffeine).

    We are going to get my husband tested, but in light of my MTHFR finding, what else would you recommend I take?

    • Dr Ben February 15, 2012 at 8:28 pm # Reply

      Justine –

      You are on a great protocol looks like.

      I recommend testing your husband for those genes listed above in the article based upon the researcher’s findings – and yourself.

      Be sure to take the vitamin C at least 45 minutes away from taking the Methyl Protect as Vitamin C can destroy vitamin B12.

      • Justine February 15, 2012 at 8:38 pm # Reply

        Thank you for your feedback! Should I also be looking into taking an aspirin or any kind of blood thinning injections now and/or during pregnancy?

  22. Lori February 21, 2012 at 11:29 pm # Reply

    I have recently tested positive for the single c677t mutation. I am about to undergo my second IVF cycle at the end of the month. I do have a 3 yr old due to our 1st IVF and have had a natural miscarriage (7wks, heartbeat day before) as well as a failed FET cycle. My question is about IVF and MTHFR. Do you feel that all of the progesterone, drugs etc is the reason I was able to carry the pregnancy? My Dr has put me on OTC prenantals, baby asprin & B complex at this point, but still feels that “it’s nothing to worry about”. My family (mother, sister, cousin) has a history of MTHFR and miscarriages. Wondering if I should be on more blood thinners or supplements during this pregnancy as precaution. My hubby has severe low count (not MTHFR tested) and I am “fine” and this is why we need to do IVF. There is a lot on the line here and I just can’t take any chances! Any feedback GREATLY appreciated!

  23. Jolanta February 23, 2012 at 8:16 pm # Reply

    I am a compound heterozygote. I had 5 early pregnancy losses before my daughter was born. When I was trying to get pregnant with my daughter I was taking 5,000 mcg of folic acid and 200 mcg of vit B12 plus prenatal vitamins. Everything was great, I was on Lovenox and later on switched to heparin. I had to be induced at 38 weeks because the baby “stopped” growing. Now I am pregnant again (7 weeks) but unfortunately It’s not going as great as my last pregnancy. I am taking the same supplements as before. I have no morning sickness anymore and a lot of cramping which means I will miscarry soon.

  24. Ashley March 1, 2012 at 11:32 pm # Reply

    Hi, I am 26 years old and have 2 boys. I had no problems getting pregnant either time. I had a blood clot in my placenta after delivering my first and the doctor sent it off to be tested. The results showed I had 2 genes for MTHFR. I was put on Lovenox during my second pregnancy and again had no problems. I am now taking a prenatal vitamin and 2 baby asprins daily. My husband and I would like to have a 3 child but, the more I read, the more I have to stop and think! What is the likelyhood that my 3rd pregnancy will be as ‘problem free’ as the first 2? should I be taking other medications/supplements? What problems can exist with the fetus besides having a mutated gene? Thanks

  25. Lisa Stroyan March 9, 2012 at 2:55 am # Reply

    Hi Dr. Ben,

    You asked for comments so I thought I would share our situation. I have one son, age 15 years, and have had uncounted miscarriages. I have hetero c677T and my son (and therefore obviously, his father) has hetero A1298C. I did everything under the sun to have a second child — consulting reproductive immunologists and hematologists across the country, HCG, Lovenox, IVIG, Humira, etc. We are no longer trying (or even desiring of another child) at this point.

    I found out that I have chronic heavy metal poisoning, both mercury and lead. My functional medicine doctor speculates that part of the problem was mercury interference with the conversion of Vit D2 to D3, but I wasn’t in a place to spend years treating the heavy metals and then trying again.

    Plus, our son has health issues — chronic fatigue, some mood issues (though mostly removed through the removal of dietary glutamate), and a slew of genetic SNPs (++ = ACE; CBS 699; MTRR 11; +- = COMT 158, 62; MTHFR 1298; VDR Fok; MTRR 66; BHMT 2, 4, 8).

    The news of the strong association between the MTHFR variations and miscarriage almost brought me to tears. Part of it is sadness that we didn’t know this, but part of it is relief because after we found out my son’s health issues I realized that there would be a strong possibility that a second child would have equally or worse health concerns, and reading this strengthens this feeling.

    You mentioned above that you have not heard of a link between MTHFR and dementia. My son has an extreme sensitivity to glutamate, and glutamate levels are associated with dementia. (In fact, he takes Namenda, an Alzheimer’s med, to block glutamate, as well as strict dietary changes). I have to wonder if there is any link between MTHFR and glutamate sensitivity. Perhaps it’s primarily the other SNPs.

    I’m happy to talk more about our case if it’s of any interest to you.

    • Dr Ben March 9, 2012 at 7:39 pm # Reply

      Lisa –

      Heavy metal poisoning does way more than interfere with vitamin D – way more.

      In your situation, it may be a combination of things causing miscarriages – not just the MTHFR. We like to find a reason for things that happen in our lives and, while MTHFR is definitely a contributor to the risk of miscarriage, it is not the sole risk.

      I really want you to know that it is not anyone’s fault that you did not know about your MTHFR mutation while being pregnant. MTHFR is new and very very few doctors are actively addressing it.
      The extreme sensitivity to glutamate may be coming from his mercury levels. According to a study that Yasko found, mercury is not that toxic to the brain in the absence of glutamate. That is a powerful statement and I need to find that article and read it.

      Having said that, if you have elevated metals, then so do your children because they were in utero for 9 months. I recommend testing them for heavy metals and working on lowering them. This will likely help reduce your son’s sensitivity to glutamate.

      Your son may also have GAD enzyme defects which prevent glutamate to GABA conversion.

      While I have not seen a DIRECT link between dementia and MTHFR (because I have not looked for it due to time), it makes sense that dementia and MTHFR are linked. Why? Because early-onset dementia is related to lack of methylcobalamin and methylation. Lack of methylation leads to a host of issues.

      Thyroid issues also is linked to neurological development in an unborn child.

      As you can see – it is complex and we’ve a lot to learn -but also a lot to go on.

      Make sure you test your child’s thyroid function. If it is low, then further sensitivity to glutamate is expected.

      I also recommend trying Niacin. It appears that reelin downregulation is linked to hypermethylation. Hypermethylation, I have found, can be controlled by giving niacin. Why? Niacin requires methylation in order to be metabolized making it a ‘perfect hypermethylation sponge.’

      Start with 1/5th tablet with breakfast and work up. If he gets flushing from the niacin, he likely doesn’t need it.

      • Lisa Stroyan March 9, 2012 at 8:52 pm # Reply

        Thank you for your detailed reply. Definitely, the heavy metal toxicity has other influences, it was just the last thing we found before stopping. One note, I didn’t have active toxicity in the bloodstream, other than from fillings — most of my exposure was from when I was young, we believe.

        We’ve had our son checked for mercury in a variety of ways (Cutler’s counting rules, hair tests, porphyrins), and surprisingly, he doesn’t seem to have significant mercury load. He did have aluminum (which strongly contributes to glutamate sensitivity) but we have managed to bring that down.

        I don’t blame the MTHFR, since we did know about my copy, and took steps to treat it when I was trying to maintain a pregnancy. But I found it very interesting to know that if a child had survived and had had one of each variation, there would be a high chance of health issues, especially given other genetic variations in our family.

        We’ve had his thyroid tested but we should get it tested again, and I wonder if it would be helpful to consider low-level supplementation anyway. I know some people are using thyroid replacement for bipolar disorder and I have to wonder about the connection.

        Thanks again!

  26. Lauren March 15, 2012 at 10:23 pm # Reply

    Hi Dr. Ben,

    I am 29 and I have Lupus SLE and Grave’s. I am also compound heterozygous for C677T and A1298C. I’m not really sure what this means to be honest (MTHFR part) but the SLE and Grave’s have been under control since my vitamin D level was raised via 50,000 IUs D3. I have done some IV detoxing and currently I don’t have any pain associated with the SLE and I don’t take any medication for it. I am on a GF diet, eat organic, and I juice. My homocystein level is checked regularly and is always perfect.

    Ten years ago, I had a missed abortion at 16 weeks, fetal death was 9 weeks. Fast forward 10 years, my husband and I have been trying to conceive for over two years. In that time, I have had a few early miscarriages. I recently went to a new endocrinologist and she recommended I start taking metformin and 4mg of folic acid. My GYN recommends taking Lovenox once I do conceive.

    After reading some of the comments, it sounds like being MTHFR heterozygous is a lot more serious than I had initially thought. Can you recommend what I can do to become pregnant and stay pregnant? Thank you.

    • Lauren March 17, 2012 at 4:42 am # Reply

      I’d like to add that today my rheumatologist prescribed Leucovorin (5mg) once a day. I am concerned since this is pregnancy category C and I would like to become pregnant soon.

  27. Kris March 20, 2012 at 1:18 am # Reply

    Hi Dr. Ben,
    I just found out this week that I have a heterozygous c677t mutation. I’m not sure if this is why I’ve had the condition of low estrogen since puberty. I’ve never had a natural period in my life and I’m 47. I’ve only had a period (ironically) when I’ve taken birth control pills. I have osteopenia, but I”m over due for a dexa scan. Hoping it’s not osteoporosis now. I am going to an ND and she had me take the test for this mutation among many other tests. I’m sure I’ll be on the right track soon, but after reading around the net, I haven’t yet found any other women with a similar problem, since many can get pregnant (I’m really sorry to hear about the miscarriages). I’ve been in a few monogamous relationships including one marriage, have had unprotected sex and have never gotten pregnant… no surprise there. Have you come across other women with this mutation who have the same symptom: no natural period and low estrogen? Could it be something else? Thank you for your insight!

    • Dr Ben March 20, 2012 at 4:53 am # Reply

      Hi Kris –

      From first glance, I believe the low estrogen problem is due to something else – beyond the MTHFR defect.

      I’d look at:
      – thyroid
      – food intake
      – exercise intensity
      – DHEA levels
      – Pregnenolone levels
      – Supplement choices
      – progesterone levels
      – D3 levels

      Those are some of the things off the top that should be evaluated.

      I’m glad you are in good hands – your ND should be able to figure this mystery out ;)

  28. Nora March 22, 2012 at 9:45 am # Reply

    Dear Dr. Ben,
    I have an urgent problem. I am 4 weeks pregnant and had two previous miscarriages (plus stage IV endometriosis). I am MTHFR heterozygous for A1298C, unfortunately they didn’t examine my husband for MTHFR. I don’t have anything else (Lupus, etc.)
    My doctor wants me to take 0.4 Clexane + Baby Aspirin. Do you think that is necessary? I am afraid that it will cause bleeding.
    Unfortunately if we want to examine my husband MTHFR things, it can be 2 weeks to get the results, which is too late.
    Thank you, Nora

    • Dr Ben March 22, 2012 at 7:05 pm # Reply

      Hi Nora –

      As long as your doctor monitors your clotting times and labs, I think it is a good idea to take precaution and reduce risk of blood clots. Tell your doctor your concerns and he/she will take extra care.

      I should state that the risk of blood clots with 1 copy of A1298C is low; however, due to the new Turkish research citing new gene mutations being significant in recurrent miscarriage, the potential for blood clots is real.

      You taking any supplement with methylfolate? If not, consider taking 1/2 to 1 tablet of Active B12 with Methylfolate daily. Allow to dissolve in your mouth – under your tongue.

      How is your endometriosis now? That can cause some imbalances in hormones – well – it is actually due to hormone imbalances. I can help you with that if it is not being addressed.

      Have your doctor check your progesterone levels now -

      • Nora March 22, 2012 at 9:36 pm # Reply

        Dear Dr Ben,
        Thank you very much for your answer. I take this now: http://www.solgar.com/SolgarProducts/Folate-800-mcg-as-Metafolin-Tablets.htm

        Do you think it is ok? I take one tablet daily.

        About my endometriosis: I was operated in December 2010. In my right ovary there was a 3.5 cm endometrioma, which was cut out. Now I have a 2 cm endometrioma again in my right ovary. I get progesteron injection (50 mg every second day) and two utrogestan capsules daily. Do you think it is enough? My progesteron level was checked on Monday together with my HCG: HCG was 220, progesterone was 68,7 nmol/L (it was around 12-13 DPO). Do you think this progesteron support will be enough?

        Thank you for your help!
        Nora

        • Dr Ben March 22, 2012 at 11:23 pm # Reply

          Nora –

          Taking methylfolate without methylcobalamin is not sufficient. They both work with each other. So I do not think the 800 mcg is sufficient because it lacks the methylcobalamin.

          Endometriosis will keep coming back unless the cause is identified.

          I am not sure if those progesterone levels are sufficient – please ask your OB. I am not versed enough to answer that.

          I am glad you are taking some progesterone though -

          • Nora March 23, 2012 at 5:45 am #

            Dear Dr Ben,
            Thank you! My doctor doesn’t want to give me more progesteron as he says progesteron can be overdosed as well and can be harmful then. I hope he is right.
            Do you have any advice or vitamins for endometriosis? I have read about endometriosis a lot but it is still not clear which way to follow (diet – which diet?, vitamins, sports, progesterone cream).
            Thank you, Nora

          • Dr Ben March 23, 2012 at 7:19 pm #

            Nora –

            Everything in moderation ;)

            Progesterone can be overdone –

            It sounds like you are in good hands with your doctor.

            Endometriosis – to me – is an environmental disorder due to toxins in the environment (BPA, plastics, heavy metals, xenoestrogens). The best way to deal with endometriosis is identify the sources of estrogen and reduce them or eliminate.

            Liver support is critical.

            There is not much you can do right now while being pregnant – however, once you deliver a happy, healthy child, then we can discuss it.

            Right now, you need to totally avoid:
            – eating canned foods as they contain high amounts of BPA
            – eating, drinking, cooking, storing in plastic containers – any of them. Only use glass or stainless steel or lead-free ceramic
            – take probiotics to help bind BPA – such as ProBiota 12 – 1 capsule after dinner

            Those three suggestions will help quite a bit in reducing xenoestrogens from your life.

            To support my comments:
            “Therefore, the presence of at least one of the two bisphenols was verified in a percentage as high as 63.8% in the sera from endometriotic women, suggesting the existence of a relationship between endometriosis and BPA and/or BPB exposure.”
            source: http://www.ncbi.nlm.nih.gov/pubmed/19444800

            Here is more research on endometriosis and BPA – pretty frustrating isn’t it that the FDA is not protecting us??

          • Ashley March 24, 2012 at 4:06 am #

            Hi Dr. Ben,
            I just found this website an I’m excited to have done so. I would def. like an opinion of my situation please! I had 3 miscarriages in a row, all before 6 weeks, then went on to have my daughter, who is 2 now. We tried for another baby and conceived twins in August 2011, then lost them at 5 1/2 weeks. Looking back at what I did with my daughter, I took an otc prenatal and a 1mg folic acid for about 6 months prior to conceiving. When I found out I was pregnant, I started taking 2 50mg’s of progesterone daily and she’s here. I didn’t, however, take anything when I conceived the twins until the day I found out I was pregnant, along with the progesterone. In Dec. 2011, my OB ran the test for MTHFR and TSH. My thyroid is fine, but I have one copy of C677T and one copy of A1298C. I started taking Neevo DHA and a baby aspirin a day. I thought I had an answer and everything would be fine. I just lost another on Monday, hcg never got above 88. My OB said they are pretty much done, there’s nothing else they can do for me and that I should see a fertility specialist and look into IUI. I am so confused and don’t know where to go from here. Any guidance would be very much appreciated!
            A list of labs done already:
            MTHFR – positive for C677T and A1298C
            Tsh – normal
            Karyotype (Me) – normal
            Karyotype (Husband) – normal
            Lupus Anticoagulant eval – not detected
            Antiphospholipid antibody panal – all good
            Cardiolipin antibody – normal
            ANA comprehensice panal – negative
            DNA antibody – negative
            Thyroglobulin antibodies – negative

          • Nora March 28, 2012 at 8:52 am #

            Thank you for your answers, Dr. Ben. What do you think about endometriosis and gluten? Is there a connection (some people say that gluten is the cause of endo…)?
            Thanks, Nora

  29. Sarah March 27, 2012 at 8:55 pm # Reply

    Hi Dr. Ben,

    I had 3 early miscarriages (before 6 weeks) in the past 9 mo. I tested positive for heterozygous MTHFR C677T. My husband wasn’t tested. I saw a perinatalogist and she put me on clomid and progesterone and I am now 12 weeks pregnant. I am currently taking 81 mg ASA, 40 mg Lovenox, 200 mg DHA, 4 mg Folate, and a prenatal daily. The perinatalagist told me that she would NOT recommend that I take the lovenox, because my losses were early the MTHFR was not the cause of my miscarriages. My OB is open to me continuing the lovenox through the duration, but is also willing to let me stop the lovenox. What would you recommend I do with the lovenox? Would it be in the baby’s best interest for me to continue with the lovenox? Should I worry about any possible harmful effects of the lovenox on my baby? Should I be taking B6?

    • Dr Ben March 28, 2012 at 6:43 am # Reply

      Sarah –

      Early miscarriages are often linked to low progesterone. A single C677T MTHFR mutation can cause issues –

      The article states that there are other mutations that must be evaluated as they can cause miscarriage – from the father also.

      Some women and very proactive physicians are recommending nattokinase, baby aspirin and/or lovenox to reduce risk of clotting.

      I am not sure if Lovenox has risk to baby or not – I need to research that – it is on my mind to do so – in the meantime – please ask your OB and do some research online about it. If you find something, please post it here.

      Taking B6 – not sure – depends – you should have B6 in your prenatal.

      I also highly recommend you take EPA, probiotic, and CoQ10 – along with cal/mag. Did you read the Prenatal Supplementation article?

  30. Bella March 29, 2012 at 6:57 pm # Reply

    I have had 2 miscarriages. Had my daughter and then 2 more miscarriages. I have recently found out that I’m heterozygous as well. I don’t now which mutation it is. But my ob/gyn put me on 1 baby aspirin and 4 mg of folic acid. But to only worry about taking it when I am trying again, pregnant or breastfeeding. I have talked to other drs and they tell me since im hetero that its not the cause of my miscarriages and that its just a luck thing. But to keep trying b/c I have been able to have one successful pregnancy. But it wasn’t such an easy ride. At about 32 weeks I had an abruption out of no where. With all of my pregnancies I was only taking a prenatal and iron b/c I’m anemic.

  31. christina y. April 19, 2012 at 2:00 am # Reply

    I had two very early (5 weeks) miscarriages in my early 30’s and my OB tested me for all of the clotting issues. The only one I tested positive for was “compound heterozygous MTHFR C677T/A1298C mutation”. She had me take high dose folic acid as a precaution before I got pregnant the next time and then a baby asprin daily the minute i knew i was pregnant. I had a wonderful, uneventful pregnancy up until the very end of the last trimester. (I stopped the asprin before the third trimester, as directed fyi). I ended up being induced 9 days early because her growth had slowed and when my daughter was born the cord was flat and had little fluid in it. She was perfectly healthy however. I plan to do the same routine the next time i get pregnant, but i’m wondering for me, a 35 year old woman with this mutation, should I be taking these supplements regardless of pregnancy for the rest of my life?
    Also fyi I was born with a VSD and what they thought was a MVP but since
    downgraded. The VSD closed when I was 18.

    • Lynn_M April 19, 2012 at 11:31 pm # Reply

      Christina Y,

      With your C677T/A1298C mutation, you need the bioactive form of folate or Vitamin B-9, which is L-5-methyltetrahydrofolate, aka L-5-MTHF, aka Metafolin. Folic acid is a synthetic form of folate and should not be taken by anyone with MTHFR mutations, because your body does not make the enzymes needed to process folic acid through the intermediary stages into the final form of folate that is usable by the body. Taking L-5-MTHF allows your body to bypass the genetic defect. Folic acid competes with L-5-MTHF for space on the cellular receptor, so it is actually detrimental for you to take folic acid. Instead of folic acid, take L-5-MTHF instead, around 800 mcg/day.

      You also need to take a sublingual form of methylcobalamin B12, around 1000 mcg/day. You should be taking these supplements for the rest of your life. You may need higher doses if you get pregnant again. It’s also important that all of your nutritional needs are being met and you are avoiding toxicity. Living healthfully with MTHFR mutations is much more than just taking methylB12 and folate as L-5-MTHF.

      Dr. Ben sells a product containing L-5-MTHF and methylB12. L-5-MTHF or Metafolin is also made as an OTC supplement by Solgar. Jarrow and Enzymatic Therapy have been recommended on Phoenix Rising as good brands of methylB12.

      Your VSD falls in the category of what are called midline defects, which are caused by insufficient folate. Your MTHFR mutation was a definite contributory factor. Read http://mthfr.net/recurrent-miscarriage-causes-look-beyond-the-woman/2012/04/06/ and http://www.biomedcentral.com/content/pdf/1741-7015-10-26.pdf “Insufficient maintenance DNA methylation is associated with abnormal embryonic development”.

      I recommend you read all of Dr. Ben’s articles and the many other forum questions and comments.

  32. Angela April 24, 2012 at 9:15 pm # Reply

    Hi Dr. Ben,
    Thank you so much for your extensive research on MTHFR!
    After 2 recent, recurrent miscarriages I have been diagnosed MTHFR hetero a1298c. I should add that I have 2 children, ages 7 & 4 (no problems with their pregnancies). My 1st loss was early – between 5 & 6 weeks. But, my more recent loss was at 14 weeks. My baby’s NT scan came back perfect, as did my maternal blood screen. My question for you is in regards to a couple of the RPL panel tests…
    My Antithrombin III came back slightly elevated and so did my PT / PTT levels.
    It seems to me that these results are contradictory??? Can you tell me… Do these 2 tests have anything to do with MTHFR?
    I am currently taking NeevoDHA, ba, coq10 (150), and calcium. My OB doesn’t think Lovenox is right for me because she is under the belief that because my homosysteine levels are normal, we can discount the fact that I even have MTHFR. My progesterone levels have never been a problem during pregnancy. Thoughts? Advice?

  33. Erin May 2, 2012 at 5:34 pm # Reply

    Hi Dr. Ben, hearing that both mine and my husband’s MTHFR genes may be contributing to miscarriage is very interesting, if not disconcerting for my particular situation.

    I have been trying to conceive for three years. After going through dozens of fertility treatments including two IVFs, I finally got pregnant only to miscarry my identical twin boys at 9 weeks.

    Subsequently my RE did some blood work and found out that I have a MTHFR mutation. After looking into my raw gene data on the site 23andMe (my husband and I have both had our genotyping done through them years ago, just for “fun”), I found that I am heterozygous for A1298C and my husband is homozygous for A1298C (we are both normal for C677T).

    My RE has now put me on Neevo and baby aspirin. Is this enough? I see so many people on Lovenox also, but many doctors don’t think it’s necessary. Do I need to see a hematologist or specialist?

  34. Melissa May 3, 2012 at 3:07 pm # Reply

    Hi Dr. Ben,
    Just wanted to give you some background info on myself. I was born with extra AV nodes in my heart causing tachycardia. I had heartcath ablassion done twice, second one was successful. I had a miscarriage at age 17( was forgetfull taking my b/c) Being on b/c made me feel crazy!( i read on your site that it lowers b’s/folate levels and why I felt insane ) I had successful pregnancy at age of 23 and 27. I have had alot of stomach issues with acid reflux and food feeling as it is getting stuck just below my sternum. All tests came back normal :( Just recently I had almost 2 weeks of pain and burning in my feet. I constantly struggle with joint pain… Always feeling like I have a haze over my brain and mental blocks.. I just found out that I am heterozygous for 677t. I started taking active b’s and folates and I feel so much better. It has only been two weeks but what a difference. Even in my gut! I also had my children tested and my son is the same as I, and my daughter is compound heterozygote for C677t and A1298. She is going to be 8yrs old. This might explain her severe mood swings…?? Their father and I are no longer together but have informed him that he definitely has the A1298. His background in life…started drinking at age 13, started smoking marijauna at 14, had done several drugs until we had gotten together and kept with the pot and when he had to quit for his job he went to severe drinking. So exciting to know that supplementing can shed some light at the end of gloomy tunnel. Learning alot from your website and thank you so much for your knowledge and getting these life changing discoveries out to us. Oh by the way my dr said my test came back negative, the kids dr. said they were just carriers for 677t. Good thing I always pick up a copy of the labs myself! :) I will be dropping off info to both Dr.s and hopefully take it to heart as you have. Thanks again, Melissa

  35. vince May 4, 2012 at 2:28 pm # Reply

    hi there Dr Ben,
    quick question on AFP ( some form of protien), is continued high levels(approx 700) harmful to the Mum.
    tks….

  36. Charity Reine May 18, 2012 at 2:44 am # Reply

    I have had 3 healthy, full term pregnancies (8,6,4) and now 2 miscarriages around 14-16 weeks. I finally has testing and found I am hetero for the A1298C, APTT LA level of 44.7, HOMOCYSTEINE OF 7.8 and the rest of my lab tests were normal. I have a history of headaches, animia and low milk supply when nursing. I am currently waiting for an appointment with a hematogist. Should I be tested for anything else? We would like to ttc so should I start taking summplements to help my health? Thanks so much for your website and all your help.
    Charity

  37. Julia June 7, 2012 at 11:04 am # Reply

    I tested homocygous for the MTHFR C677T mutation, my husband heterocygous for the A1298C mutation, about 12 months after our first miscarriage (after 3 years of infertility). Been told to take 5mg Folate daily and extra B12 (which I did) and assured “you’ll be fine!” Another 5 months later I conceived again, but sadly also miscarried again at just before 10wks. There was no growth since 5wks 4days.

    We do have one healthy daughter, 4 years old, with ‘relatively uncomplicated’ pregnancy & birth back then. [“Only” problems were really worrisome pressure on my chest sometimes during the 9months, that I was worried I might have a heart attack. And lost 10kg with morning sickness during wk 6-7, (60kg is my normal weight)].

    I wonder whether IVF would be advisable, where they can do genetic testing before embryo transfer? Or just keep trying naturally, hoping for the best? Those 2 MCs have been heartbreaking for me, and as much as I’d like to be grateful and happy about my family and one daughter, can’t help feeling depressed often. Which I wonder whether it has got to do with the MTHFR C667T condition also?

    Will see to get these other tests done, THANK YOU so much for providing so much valuable info on this website!!!! <3

  38. Oshuna Oma June 22, 2012 at 4:15 am # Reply

    Hi there, I am 61 years old. My brother was just tested for mthfr & is compound heterozygous mutation of both mthfr genes. I have not been tested yet. In my child bearing years I had 9 pregnancies that ended in miscarriages; causes were explained as an incompetent cervix, placenta previa. One I lost at 7 months, she lived for 3 days. The others were between 5 & 7 months and stillborn. I finally had two daughters. One they caught the opening & did a cervical circlage and kept her in for enough time to live. The second was breech and made it till complete pregnancy. Both have had pregnancy problems but have their children now. We all have had low level depression, one has bi-polar. I have heard these genes could be responsible for these things too, I am being tested next week & want to make sure it is the right test for us.

    • Lynn_M June 22, 2012 at 6:20 pm # Reply

      Oshuna,
      You might to make sure that the lab tests for both A1298C and C677T. Since your brother is compound heterozygous, and you’ve had a history of miscarriages, it seems quite likely you have a MTHFR mutation as well.

      • Oshuna Oma June 25, 2012 at 11:44 pm # Reply

        Do we know what the percentage/probability of siblings(me) having the same mutation(compound heterozygous). I am having my blood tested this Wednesday so will know for sure within couple weeks.

        • Lynn_M June 26, 2012 at 5:05 am # Reply

          Oshuna,
          You’d have to know your mother’s and father’s genetics in order to know the odds of what mutations you might have. The only thing you can tell from your brother’s compound heterozygous is that one of your parents was at a minimum heterozygous for A1298C and the other parent is at a minimum heterozygous for C677T.

  39. Wendy July 5, 2012 at 11:52 pm # Reply

    I am 32 with PCOS and I have two girls from my first marriage, ages 3 and 5, both with an Autism Spectrum Disorder. I have remarried and have been trying to have another child. After two miscarriages, I discovered that I am compound heterozygous for MTHFR. I was taking Metformin for my PCOS, but stopped once I found out it might not be helping my fertility! I am taking the generic form of Metanx and baby aspirin since I had a fasting homocysteine of 11.9 after my last miscarriage. We have also discovered that my husband is compound heterozygous. I am 4 weeks pregnant now and I worry that even if this pregnancy doesn’t miscarry, this child could also have autism or other health problems. I don’t know my girls’ MTHFR status yet.

  40. Kathy July 13, 2012 at 2:29 am # Reply

    Hi Dr. Ben,

    I am 59 years old, had 2 missed abortions in 1990 and 1992 between my two daughters who were both born healthy. I was just diagnosed with heterozygous A1298C. After being given Deplin and finding it helped me I began looking into the ingredients in Deplin and consequently found out about methylfolate and finally this wonderful site… which prompted me to get tested. It really brings back the sadness of those days when I read how so many others have experienced the same thing I did, but at least now there is hope for those that are able to learn of it. I was able to have a beautiful daughter, now 19, after my high-risk doctor prescribed baby aspirin (they suspected blood clotting back then but didn’t know why) and daily progesterone suppositories for the first 5 months. Not sure if the progesterone really helped or it if was the baby aspirin after reading this information but I had no difficulty with that pregnancy. I wonder now if my husband may also have a MTHFR mutation which may have contributed to the problem. His sister developed a deep vein thrombosis when she was on hormone replacement a few years ago and now it makes sense that he may also have inherited a clotting issue. At this point it is probably a good idea for him to be tested for his own health. Any thoughts on this? Thanks so much and God bless all of you ladies who are trying desperately to have a child.

    Kathy

  41. Jennifer July 18, 2012 at 8:45 pm # Reply

    Hello Dr. Ben,

    Thank you for your input on a handful of questions I have posed to your website – I appreciate your advice.

    Tomorrow, I am going to be meeting with my high-risk doctor who specializes in recurrrent pregnancy loss. I am trying to gather some information from your website to share with him tomorrow.

    I printed out the abstract of the newer article you used in the above post regarding the significance of combined mutations from mother and father. I am asking for some clarification on this, as I want to make sure I know what I am talking about tomorrow!

    I have a heterozygous C677T mutation (husband is untested). This paragraph from the article abstract’s conclusion puzzles me – to my inexperienced eye, it seems to suggest that a heterozygous C677T mutation in the mother was NOT associated with RPL. Am I reading this correctly?

    “The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations.”

    Are you able to shed some light on this paragraph? To me, it sounds like the only genes linked to RPL coming from both parents are FVL, FVR2, ACE, and ApoE2. And that the C677T mutation is only a factor if it is homozygous in the mother.

    Thank you very much,
    Jennifer

    • Lynn_M July 19, 2012 at 4:54 am # Reply

      Jennifer,
      I believe you are interpreting the stated conclusion correctly. The researchers found the father’s C677T mutation had no bearing on RPL.

      It’s possible the researchers saw an association between the father’s C677T status and RPL, but the association didn’t reach statistical significance, and if so, it could not be concluded to be a risk factor. This could happen if the number of RPLs associated with fhe fathers having a C677T gene was low, and thus lacking in sufficient statistical power to reach a conclusion with a sufficient probability. It could be illuminating to read the full article to see if there was at least a positive correlation.

    • Dr Ben July 25, 2012 at 7:36 am # Reply

      Jennifer –

      Lynn answered your question correctly.

      The MTHFR mutation on the woman’s side does have an affect on RPL while the MTHFR mutation on the father’s side does not (I vehemently disagree with this).

      The point of my article and of the research is pointing out the VERY IMPORTANT point that RPL is not just due to the mother’s genetics – but also the father’s.
      The research article points out the SNP’s which are important to identify in both man and woman – which I find to be very valuable.

  42. Robin July 23, 2012 at 3:08 am # Reply

    I was doing a little research to see what the symptoms were for MTHFR C-677T and A1298C. I am now done having children and wanted to see if there was anything that I should be doing to get/keep myself healthy.

    A little about my history. I have had 8 miscarriages. It was due to testing from my RE that these mutations were found. I was told that I was a little low in Folic acid and should take 400 mcg when I was pregnant. I am also Luteal Phase Deficient, which I found out on my own (asked my Dr for testing and was positive), and also have a Bicornuate uterus, so I guess you can say that I have multiple issues working against me.

    I do have three beautiful and healthy children ranging in ages from 23 yrs, 8 yrs, and 11 months old. The large gap in ages is due to the miscarriages that were suffered in between.

    Before becoming pregnant this last time, I had had a sinus infection and took two doses of vitamin c one day and vitamin b complex for a couple of weeks. (About 2 weeks before I ovulated). I later learned that vitamin c raises the Progesterone level, which must’ve helped my luteal phase deficiency. I guess it helped me enough because I held onto my baby. I did have spotting for 14 weeks and a subchorionic hemorrage at 10 weeks, but it healed while on bed rest. I also took 200mcg Progesterone orally for 14 weeks, a daily prenatal and one baby aspirin per day until a week before my c-sections. I had no idea of any fertility issues with my first child (second pregnancy), so I was just on a prenatal with him.

    I had taken Clomid when I got pregnant with my 8 yr old, but clomid failed me after that, so I didn’t think I could get pregnant, and due to moral issues, I didn’t feel good about doing IVF. So, after two years of throwing caution to the wind, and taking vitamin c that time, my little suprise miracle came along! I hope that my story can give others hope : )

    Getting back to what I can do to be healthy, I wanted to mention that I always bruise easily and I am sensitive to the touch, meaning, if my 8 yr old daughter leaned on my leg with her elbow, I would see stars. Do these things have anything to do with these mutations and what can I do to address them? Also, my mother just had surgery to fix an anneurysom in her carotid artery that went up into her head, and her father had a stroke in his late 50’s but he was also a smoker which neither my mom or I am. I’m guessing that they had/have the gene as well.

    Thank you : )

    Robin

    • Annie July 28, 2012 at 3:08 pm # Reply

      Robin, I’m interested in knowing how Dr. Ben will respond. I, too, am compound hetero (1 copy of both genes). In my last pregnancy last year, which i lost at 20 weeks, i had the same type of leg pain. Both my legs hurt to the touch and I never understood why. Even now the pain comes and goes. Some days are better than others but there is always some kind of sensitivity.

      All the best,
      Annie

  43. JBG July 27, 2012 at 8:45 pm # Reply

    This reading its pretty interesting as I can relate to some of this cases. My primary problem was getting pregnant, after fertility treatment (IVF) we have a healthy baby. Resulting in a high risk pregnancy with all type of complications.

    I had a low plalete counts, I also have some type of lupus in my words (medical terms is undefined autominmune disorder). With my prior pregnancy, which was close right after transfer of embryos there many complications. Every week was something different, I ended up with 7 pills a day to include PLAQUENIL, METHOTHREXATE, SINTROID, ETC, ECT, and daily shots of LOVENOX.

    As we try for the second baby many new test are coming to the radar, so recently we were both tested for MTHFR and these were the results: I have one copy fo A1298C and hubby have one copy of C677t.

    Additionally, my CRP levels are high 12+.

    How is all these translated, do I need to closely test my baby also? How are these mutation will risk the pregnancy?

    Thanks for the information, very helpful!

  44. SheriP August 9, 2012 at 6:58 pm # Reply

    Thank you so much for all the helpful information Dr. Ben! I’m debating on whether or not to print this for my OBGYN as I’m skeptical on how positive her response will be. I was diagnosed with homozygous A1298C MTHFR gene mutation two days ago. I am 31 years old and have had two early miscarriages since January (no other pregnancies). I am currently taking a Progesterone suppository BID after ovulation. Upon discovering the MTHFR, my OBGYN indicated that I should start taking an over the counter B-Complex and that we would start Heparin injections with my next positive pregnancy test. I asked her about a different form of Folate (methylated) as I had read it was better to take with the MTHFR. She said “no, the B-Complex has all the B’s and the right amounts that you need”. I went ahead and started taking one with 400mcg Folic Acid and 100mg of most of the other B’s. I was already taking a supplement with 400mcg Folic Acid and extra Iron that she told me to stop taking. I also asked her if I should start taking the Heparin injections at the start of my cycle rather than after a positive pregnancy test and she said absolutely not. I just read your article “Recurrent Pregnancy Loss and MTHFR” where Dr. Ramirez indicated otherwise. I truly feel as though it would have been too late with the last miscarriage. I got a positive pregnancy test the day after my missed period and started spotting within a few hours which was on and off until I started miscarrying a week later.

    Should I simply insist that my OBGYN prescribe NeevoDHA or MetanX and to start the Heparin sooner than a positive pregnancy test?

    Also, I have noticed that I have been getting severe headaches more frequently now starting about a week after ovulation and off and on until my period starts. I have mentioned it to my OBGYN but she said that it’s from fluctuating hormone levels. Are the headaches more likey related to the MTHFR?

  45. Valerie August 20, 2012 at 5:17 pm # Reply

    hi dr. ben,

    i’m a 39-year old woman who recently terminated a pregnancy due to a down syndrome diagnosis of the fetus. we’ve just begun trying again, and on the suggestion of a friend i got tested for MTHFR and came back positive for one copy of 677T and one copy of 1298C. there’s a chance i’m currently pregnant.

    my questions — have you seen a correlation between trisomy 21 and compound heterozygous MTHFR?

    what’s my next step in terms of labs and supplements?

    thank you so much.

  46. Treya September 26, 2012 at 3:48 am # Reply

    Hi Dr. Ben,
    This site is amazing and so informative. I just found out I am am positive for the heterozygous A1298C mutation. I have had four pregnancy losses, one at twelve weeks. I have also been battling a lifelong feeling of depression, or just a lack of interest. Sadly I have just learned to live with it. I was wondering if this mutation could also play a part in polycythemia? I’ve been tested for primary polycythemia Vera and it came back negative. But my red blood levels have been high for at least the past six years. I am currently seeing a reproductive specialist. They are going to start me on high doses of folic acid. Have you seen this mutation affect the red blood cell production in anyone else?

  47. Ann October 20, 2012 at 5:24 am # Reply

    My 20 year old daughter lost her baby at 37 weeks.
    She had 2 miscarriages between age 19 – 20. After second m.c. doc. tested her & found she had mthfr. I dont know what type. Doc said she had the “better” of them and treatment for the rest of her life would be a baby asprin a day.
    She also has Ashermans syndrome from the m.c.’s
    While pregnant she took prenatals, some time a folic acid suppplement, baby asprin.
    She quit taking the folic acid during somepoint of her pregnancy.

    When my daughter was 6 months pregnant she felt “weird” we were camping at a high elevation. She went to a local hospital and it was found her fluids were low and that she was having contractions.

    She went home and saw her O.B.
    She was still having contractions. She was given a shot to stop contractions and given fluids. They thought it was from the heat in Arizona summer and dehydration
    My daughter started drinking tons of water.
    she was put on full bedrest.

    The baby failed her first NST. My daughter was hospitalized over night and given iv fluids, orange juice and she was asked to eat. The NST was given again in the morning and baby passed.

    Every week she went in for NST. Baby sometimes was slow moving, and other times she passed with flying colors and they were in and out of the OB department. They witnessed her practicing her breathing and doctor and nurses were impressed watching her breath. Stayed another night in hospital for NST. Passed and sent home.
    Whenever my daughter was low on fluids she responded well with the iv fluids.

    37 weeks, NST baby passed with flying colors. Doc sent them home. Told them any contractions just to come to the hospital and they’d have the baby.

    The last hours.
    Daughter came to my house for dinner. we took a short 10 min. walk. I took pictures of my her, she layed in the grass she commented that the baby didnt like when she laid on her back and got up after being on her back for about 30 seconds.
    They went home. Went to bed about 11pm and her and her husband laughed at watching the her tummy move with the babies hiccups.

    1 am daughter woke up to use bathroom. she said she felt like the baby was “floating”

    10 am called me to tell me she was scared that she had not felt the baby move since the night before.
    11 she went to ob
    I thought I was going to be called to go to the hospital to witness my first grandchild be born.
    12:30 hospital called and told me the baby had died.
    Baby was born 6:33 next morning.

    No blood clotts were found in the cord or placenta. Baby was perfect. Chromosones were perfect as well.

    No autopsy
    Had a funeral.

    What went wrong?
    Was it the MTHFR ? Was it possibly too short or too long of cord?
    It was always a mildly complicated pregnancy. Why the problems with the fluids, and the baby moving slow and after sugary drinks, food and iv fluids the baby would move?
    And somedays the baby would pass the NST with flying colors?
    Could a blood clott have traveled through the cord killing the baby?
    What do we need to do for the next baby?
    I contacted the Doc. you have listed for AZ. They responded back and are willing to talk over the phone.

  48. Trish November 1, 2012 at 6:45 am # Reply

    I find this very interesting. While I have not had any miscarriages I have had pre-term labor. My two sisters and I have all had pre-term labor. One sister has had miscarriages. Our doc told us all along it was a fluke and their was no connection. Well now we have found out that we have Factor V leiden and MTHFR in various combinations. My mother has elevated Factor Vlll, MTHFR, Factor V, and plasminogen inhibitor-1 4g/4g. My youngest daughter and I are borderline for Von Willibrands, my oldest was not tested for that. I personally have factor V leiden and MTHFR. My youngest daughter is hetero for Factor V leiden I am not sure if I am hetero or homo for the MTHFR. I was not tested for that as my oldest daughter is Homozygous for MTHFR C677T. My hematologist said it really wasn’t necessary if my daughter is homo then I have it. My husband has not been tested for MTHFR. My mother and grandmother have both had dvt’s. We suspect my grandmother died of a massive PE at the time they said it was her heart….but she never had heart issues. My mother had a PE after knee replacement. They suspect that my oldest daughter(homo MTHFR) had a clot in her picc line at the age of five following septic hip surgery. Her veins in that arm and one side of her chest are bright blue as a result. I went into pre-term labor at 26 weeks with my oldest and had her at 29 weeks(no issues just very small at birth). I went into pre-term labor with my second at 29 weeks. Between my sisters and I we have 8 children we had pre-term labor with all of them. Only two were carried to term with medication and strict bed rest. No one other than my mother has been tested for the PAI-1 as I don’t think it was available at the time. I am very scared for my daughters because they both want children. I was successful and I hope they will have the same outcome. I am glad to see that there is finally information on the internet about these blood clotting problems. The information raises a lot of questions about my own experience as I hemorrhaged just before my first daughters birth….maybe placenta abruption? I now feel better knowing there are things that can be done to help my daughter’s in the future. At the time of testing they told me my factor V daughter would need to see a high risk ob prior to pregnancy for testing and to see if she will need heprin to carry pregnancy to term and of course if she ever wanted hormone therapy. My homo MTHFR daughter they said should just see an hematologist before taking any hormones and to have her homocystine level checked before pregnancy. Am I wrong here?……I feel like MTHFR is worse during pregnancy than Factor V. I find all of this fascinating. I didn’t know about my clotting problems until 4 years ago. I was told about the von willibrands about eight years ago and the doc at the time refused to test me for clotting even after I told him of the family history. I have smoked and taken the pill for years. Not to mention when I had my hysterectomy they gave me meds to make my blood clot because they only knew of the VW at the time. My hematologist said I am very lucky to be alive after that LOL. I have never had a clot occasional phlebitis in my leg. I live in GA and when I tell doctors I have MTHFR they look at me like I have three heads….especially when I tell them what it stands for. I always knew that the pre-term labor that my sisters and I experienced had to have a common factor. Thank you for what you are doing! I can now see how fortunate I am that I was able to make it that far in my pregnancies.

  49. Julie November 9, 2012 at 3:41 am # Reply

    I am a 47 year old female who was recently advised that I have MTHFR and am compound heterozygous to the C677T and A1298C. My physician advised that this was a serious clotting disorder. He also said my children should be tested ASAP. My father passed away from a massive heart attack and my mother a stroke. My father also has AVM. Any information you can provide would be very helpful as I am a little freaked
    Thank you so. Ich for your help!

  50. Kelly November 16, 2012 at 4:22 am # Reply

    Dr.Ben,
    I love you have this website! I am just starting with all this. Our story is no pregnancy in 5 years of TTC, we went to see specialist and all my tests came back excellent except for a couple things my MD said were mild. My husband is strong and very healthy!

    Ok so I have low progesterone levels BTWN 8-12 21-25dpo… I am Rx progesterone suppositories 200mg BID.

    My DNA testing results: mild disease- Factor V Leiden Thrombophilia
    Mild disease- MTHFR deficiency (a222v heterozygote) (e429a) heterozygote
    Mild Disease- Prothrombin Thrombophilia

    So my question is… My MD says no big deal we will just treat with Folcaps 2.2 mg BID and Baby ASA daily and Prenatal. But that’s not til I get pregnant… I have done lots of reading and it seems like maybe all this has something to do with even implanting…. Am I correct? And is this tx correct ? Should I take something while TTC to prevent an issue early on?

    Thanks So Much!!!
    Kelly

  51. Nicole Grandshaw January 1, 2013 at 9:59 pm # Reply

    I have C677T. I had my son when I was 19 with only preterm contractions that were stopped with meds. I had my daughter at 21 she had no complications both were born at full term. At age 26 i got pregnant and miscarried at 6 weeks and have since than miscarried another 5 times. I did the trial in colorado where they tested the affects of asprin on reproduction and conception i conceived and also miscarried. When we joined the Army i suffered one of my losses and they sent me for testing and found the MTHFR and put me on lovenox and folate and asprin and B12and progesterone but i miscarried again. My RE ran more tests and found an over active immune system which she started having me take an immune depressant and progesterone. The RE i was seeing is two hours away and did not see me but 5 minutes when i would go see her so i am in the process of finding a new RE My sister about a month ago found out she has MTHFR and has no children she is still in school she is 26. We are still trying but getting weary. Do my parents need to be tested we were told it only affects fertility and wont be important if they are not child bearing?

  52. Becca January 17, 2013 at 10:59 pm # Reply

    Hi Dr. Ben –

    I was diagnosed with Compound Heterozygous MTHFR and Homocystinuria in November 2012 after having three consecutive miscarriages. My doctor suggested I get a Recurrent Miscarriage Panel, I took his advice and here we are. Upon researching this diagnosis and finding this website (which has been my biggest help) I still don’t have one major question answered. How could I have had two very healthy and uneventful pregnancies and two very healthy boys with this condition? My first miscarriage happened with my third pregnancy. I had no trouble getting pregnant with my first two children. Did something trigger the MTHFR? Two healthy pregnancies, two healthy children and then three consecutive miscarriages. I just don’t understand. From everything I read, it’s a miracle that my children are healthy. Can you help me?

  53. Jenny Tuttrow January 20, 2013 at 7:07 pm # Reply

    Very interesting article. The MTHFR gene mutation is all new information to me. Does anyone know if it is something we are born with only or can it develop from taking prenatal vitamins with folic acid in it? I ask because I had a completely healthy pregnancy and birth in 2009, but I have had 3 miscarriages at 11 weeks since then. (I took regular folic acid during that pregnancy and for about two years after for breast feeding.)
    I just found out that I am just starting my 5th week of my 5th pregnancy… what do I do? Do I go ahead and take the special folic acid? Is it too late to test? I just don’t want another MC. My husband and I have had several tests done already and everything came back normal. Now I’m a little nervous and just don’t know what I shoud do.

    • Lisa W January 21, 2013 at 2:22 pm # Reply

      I’m so sorry for your loses. I myself have had 4 miscarriages, and 1 ectopic. Within that mix I have had 1 heathy baby girl in ’08. :) I am also compound hetro. I have had all sorts of testing also and have found nothing else. However, with this most recent doctor I am seeing she put me a specific prenatal called NeevoDHA. Maybe you could try that. I have not tried to get pregnant yet while on that so I can’t say yet that it worked for me. I just started taking it almost a month ago, but I know that it’s straight L-methylfolate therefore your body doesn’t have to breakdown the synthetic folic acid. There is a site for the prescription med. check it out. It explains it. Good luck!

  54. Shari February 8, 2013 at 10:56 pm # Reply

    Dr. Ben,
    Thank you for taking the time to answer all of the posts. My story in short: I am 41 and have had 8 IUI’s. 3 were clomid – BFN, 2 were Bravelle – BFN, 3 were with no meds, just ovidrel and then prometrium – 3BFP’s, but then i had chemical pregnancies with all three. I pushed my doctor for the testing (he was saying just old eggs). I got a new doctor who reveiwed my results. I am a compound Heterozygous, but i have a level of 8.7 for my Homocysteine (which i understand is normal). I am allergic to aspirin – all NSAIDS, so my doctor said that my prenatals were fine. I have 1mg of Folate and B12 – Cyanocobalamin – 12mcg. Is that enough? I am reading all of this and it seems overwhelming. Not sure if I should push my new doctor or just continue with the prenatals. What do you think?

  55. Beth February 15, 2013 at 3:12 pm # Reply

    One of the girls from my multiple loss forum sent this article to me. I have a healthy 4 year old son and lost two daughters last year – one at 39 weeks and one a 17 weeks. I went to a RE for testing (17 tests, 23 vials taken) and the only positive result I had was for Hetero MTHFR A1298C which all docs have dismissed. My husband has not been tested but I can talk to the MFM about this, though I know he does not subscribe to this “theory.” From reading this article, I am unclear of the recommended treatment for this diagnosis. Is there recommended treatment for the father as well or only the mother?

    • Marie Pace September 10, 2014 at 11:34 pm # Reply

      Hi Beth!

      I am in the same situation as you posted here and just wondering if you found out any information or were able to get pregnant….and keep it. I’m sorry for your losses!

  56. Chaanda February 17, 2013 at 2:02 pm # Reply

    Dr. Lynch,
    I am really hoping you can help me tease out my family history to see if the link is indeed MTHFR. I discovered that I was heterozygous for MTHFR C677T and had elevated PAI-1 after having 3 consecutive miscarriages very early in my pregnancies (it’s amazing to me that insurance wouldn’t cover me seeing a specialist that would run these kinds of tests until after 3 miscarriages… I digress). My initial Dr wanted to put me on lovenox once I got pregnant, but left the practice and I was left with another Dr who said “there is no connection between MTHFR mutation and pregnancy loss” and did not want to put me on the lovenox. My husband and I INSISTED. I had a very successful pregnancy until my 17 week sonogram and the baby was small for its size and had hydrocephalus (enlarged head, water on the brain). Turned out the baby had Triploidy Syndrome (extra set of chromosomes, 0% survival) and I had to terminate. My 5th pregnancy was absolutely perfect and I had a big, healthy boy! Well almost… he was diagnosed with Autism at 3yr old, which leads me to the rest of my siblings. My oldest half-sister (we have the same Mom only) has two boys (21yo and 11yo) who have two different dads. Both her sons have autism. I then met my Mom’s full-sister’s grandson (my 2nd cousin) this past thanksgiving who is 11yrs old. He’s diagnosed with ADHD but doesn’t have the diagnosis of autism; however he possesses many of the symptoms of autism (low tone, poor motor coordination, extreme fixations, and poor eye contact). My other half-sister (again only the same Mom) has had a life long battle with many debilitating illnesses, most notably erythema nodosum, fibromyalgia and suspected mental illness. My full brother is extremely healthy with no physical ailments; however he does suffer from bouts of severe depression. My Mom’s mom died from pernicious anemia. My Mom seems very healthy with no complaints except brain fog and vertigo. My symptoms are mostly bouts of intense fatigue and extremely poor memory and brain fog. Obviously all of these people I mention are connected only through my Mom. But I am the only one who has been tested for the MTHFR mutation. After reading your site for the past two days and seeing all the illnesses the C667T is linked to, I’m extremely curious to know if my family is suffering because they also have the C677T mutation. There are 3 (possibly 4) boys, all from my mother’s lineage, who have autism!! Is it just genetics? Also, could my fourth pregnancy diagnosis (triploidy syndrome) be somehow connected to my heterozygous C677T? I want all of my family members to get tested. Some are resistant to the idea however. My brother wants to get tested. Can you tell me exactly what the name of the test is called so he can ask his physician? Should my family also get tested for PAI-1? Is elevated PAI-1 even a concern? (By the way my PAI-1 number is 89.) Could C667T mutation possibly be responsible for the pernicious anemia my Mom’s Mom died from (I can’t seem to find any links in my research). I had completely forgotten about my C667T mutation and elevated PAI-1 until I started doing research on holistic healing for autism yesterday and found that some 98% of children with autism have the C677T mutation? Could that be true? That blew my mind and took me on this whirlwind of research to see if all my families’ ailments had a connection to C677T. They all seem to except pernicious anemia. I have never tried any supplements to alleviate my symptoms because I have never even thought about my mutation until I started doing research on autism yesterday. I am serious about getting my son tested and want a serious lifestyle change (supplements, food, etc) to see if our symptoms subside. My brother is serious to find something to alleviate his depression too. I’m sorry for the long-winded email and I hope that you can help answer some of my questions.
    Chaanda W.

  57. Tiffanie February 21, 2013 at 11:31 pm # Reply

    I am just learning that I have MTHFR. I have a 2 year old son who is healthy as far as I know. I’m wondering is there anything with him I should be worried about or have him tested for. That being said, I’ve had 2 miscarriages since him and one before him. I do have an appointment with a specialist because I’m currently 8 weeks pregnant. I am taking folic acid 400 mcg and 1 low dose of aspirin q day. I know my fiancée has not been tested. Does my unborn child have a high chance of having health issues? I don’t think I mentioned that all I know about my MTHFR Is that I have one copy and my Dr said its the most common. Any feedback greatly appreciated!

  58. Carla Noll February 23, 2013 at 3:42 am # Reply

    I am 42 years old and really want another child. I have begged God to take the desire for more away, but he hasn’t, so before it gets too ate, I would love to try again. Here’s my story….I have 4 beautiful, healthy children. I had one blighted ovum after pregnancy 1, then had baby 2, an early miscarriage, baby 3, 2 early miscarriages (saw heartbeat on one), my doctor did tests and found that I have MTHFR (1 copy I believe). For my next pregnancy, I was on 2mg folate, 100mg b6, 250mcg b12, a baby aspirin, and vaginal progesterone….I had a beautiful baby boy. 1 year later, I found I was pregnant, so I was put on Folgard, b6, b12, aspirin, and progesterone just after finding out I was pregnant. We saw and heard the heartbeat many times, until 13 weeks, when there was no longer a heartbeat. What was the difference and why 5 miscarriages and 4 children? I really want to try this again. I have a great desire for another baby, but I want to give it the best shot possible. What would you recommend? ANY advice would be greatly appreciated. I love my obgyn, but he really wasn’t greatly familiar with this, so he got the treatment recommendations from Shady Grove Fertility. I am not getting any younger; I would love to hear your thoughts. Thanks!!!

  59. Susan Okerlund March 6, 2013 at 2:53 am # Reply

    Interesting. I am hetero, but was not told which, just that it was nothing to worry about. Found this out after my daughter was tested after multiple miscarriages and found she was homozygous. So my husband must also be at least hetero. We had 1 stillborn with a open spine and other abnormalities, and then 2 normal girls, one is hetero, one homozygous. I am getting my 23and me done. Then will know more.

  60. Courtney March 11, 2013 at 5:11 pm # Reply

    But, If the father has been tested and is negative for MTHFR gene mutations of any kind and the mother has a heterozygous C677t with normal homocysteine levels, do you still feel that MTHFR is a contributing factor to pregnancy loss? If so, do you recommend lovenox?

  61. Amber March 12, 2013 at 4:59 am # Reply

    Hi! New to all this. Our journey began with our sons diagnosis of Hemiplegic cerebral palsy when he was 17mo. old. The MRI showed an ischemic stroke, and it has been assumed this took place inutero. He was born premature at 35 weeks due to my preeclampsia. We are thinking of having more kids, so we got his blood work done. He came back as hetero for 1298C, so then I got tested. I came back as hetero compound for 1298C and C667T. Hematologist won’t link this to his inutero stroke, but I can’t help but think otherwise. What are the chances that my next child will be hetero compound? We are waiting on the father’s results. Thanks so much!!

  62. Jessica April 3, 2013 at 8:18 pm # Reply

    I have had 4 children. 1 boy that I delivered at 40 weeks no problems except high BP at 40weeks which caused my Doctor to induce me. The next 3 didn’t go well, I had a miscarriage at 14 weeks, delivered a daughter at 19 weeks and the most recent I deliverered a daughter at 18 weeks. this last pregnancy is the first with my husband. My doctor sent of my placenta, it came back abnormal with blood clotting and infection. I just received my lab test results and I go back to the Doctor in 3 weeks.
    I haven’t gone over these results with my doctor yet but I did ask for copies of everything!
    It says Heterozygous for the mthfr c677t and a1298c mutation both say 1 of 2 alleles affected. So that means yes I have a mutation right? Also DRVVT creen is 50.1 which is high I did manage to read and understand about that .Everything else was nomal.
    Any thoughts or opinions would be greatly apprecitated. Thank you

    • Jessica April 4, 2013 at 6:55 pm # Reply

      I forgot the only medications I’m surrently taking (not pregnant yet) are Levothyroxine 50mcg qd and an over the counter prenatal.

  63. Audrey April 4, 2013 at 12:04 am # Reply

    I am a little desperate! About 9 months ago I was pregnant and the fetus was diagnosed with acrania/anacephaley at 12 weeks and the pregnancy was terminated. My dr encouraged me to get tested for MTHFR gene mutation. I tested positive for the homozygous C… Mutation. I was put on 5 mg of folic acid (Forbic) and assured this would not happen again. Well… Last week I was just forced to terminate a second pregnancy for the exact same problem. The drs now believe this nothing to do with MTHFR and is likely chromosomal in nature. After reading your treatment protocol I feel like my treatment was way off track and could have caused the second neural tube defect (or both actually). What can I do? I live in Duvall, WA and feeling so confused. I really need some direction. Thank you!!!

    • Jack April 10, 2013 at 12:59 am # Reply

      hi Audrey,

      very sorry for your losses, we had the very same situation as you with our baby last year and and was recomended 10 times dose of Folic acid for a future pregnancy , in the mean time we stumbled across Dr Bens web site after my wife found out she was had a MTHFR mutation with A1298c, we went with a faily hefty supplement regime recomended by Dr Ben that included B12 and folate L-5-MTHF 1000, i dont want to speak too soon or out of hand but our current pregnancy is showing up pretty good and the doctors seem happy with the scans thank God, so 5 weeks to go and praying all will go well. rgds

    • Jack June 3, 2013 at 7:01 am # Reply

      hi Audrey
      all went well with our pregnancy .
      not sure how this forum is about sharing email addresses.. if you can and want to plaese do and i can go through our situation with you, rgds

  64. Clare April 10, 2013 at 12:18 pm # Reply

    Hi Dr Ben,

    My husband and I are both homozygous C677T (and no, we are not related… have been asked that by OB) We have one healthy son (very easy pregnancy, no problems at alI) I have since had two second trimester miscarriages (missed miscarriages) before the MTHFR was tested (only thing that has come up in bloodwork). I understand that with a homozygous foetus that problems can come from the foetal side in creating a healthy placenta and in causing clots.

    We want some indications of the risks involved in pursuing conception. (OB mentioned risk of very premature birth). Is there a risk of birth defects? Does the folate, asprin & blood thinners combination address a homozygous foetus? Are we able to have a healthy, full-term baby? (We have already but the problems seem to have started with subsequent pregnancies)

    We are so happy to have our son and will not go through another pregnancy if the risks are great (obviously with pregnancy there is always some risk) We just want to have a clear understanding of where we stand and from what I have found there is little understanding of MTHFR in Australia.

    Thank you for your time
    Clare

  65. Nicole May 6, 2013 at 3:11 am # Reply

    I tested positive for both C677T and A1298C with normal homocysteine levels. I’ve lost count of the number of pregnancy losses I have had. Am I considered homozygous or heterozygous? They are not present on the same chromosome according to the results. With these two mutations is it recommended to increase folic acid if trying to conceive? I also tested positive for anticardiolipin Ab, IgM, Qn. Any recommendations would be greatly appreciated!

  66. Amanda June 27, 2013 at 1:16 pm # Reply

    Hello Dr Ben! I have been Pregnant 7 times and I only have 2 Living Babies. My first born, my Son was Stillborn at Full Term in 2003. I had Gestational Diabetes that went untreated and he was born still at 39.4 Weeks. I got PG with my 2nd Child a year exactly later. I found out then that I had MTHFR, I’m nit sure which one but I was told the less severe type. Again I had GD but this time I was treated. My sin was born at 36.6 weeks happy, healthy and just under 10 lbs. In 2007 I gave birth to my Daughter, just under 11 lbs at 38 weeks and Monitored GD. This was my last Full Term Pregnancy. In 2010 I miscarried right at 7 weeks. In 2012 I miscarried at 5 weeks and Twice in 2013 I miscarried right at 5 weeks May 9 and June 22.

    What should I be taking for the MTHFR with the May 2013 I started taking 81 mg of asprin and the June 2013 pregnancy I was still taking the asprin and I started Folic Acid. Should I be taking more? My ins won’t currently cover any testing at the moment and I can’t afford any testing done right now. What do you suggest for everyone to take whom has MTHFR? I will start taking it now, we plan on waiting a few months before TTC again.

  67. Nicole July 18, 2013 at 6:10 am # Reply

    Dr Ben,
    I am heterozygous a1298c & just learned my husband is compound heterozygous. We have suffered 4 miscarriages, a chemical pregnancy, & most recently an ectopic (no live children). I’ve had all the testings, we had chromosomal testing, I had a hysteroscopy & everything else is normal. Is it possible my mutation & both his mutations together are the cause of these recurrent losses? And if so what would you recommend we do in order to carry full term? Was very happy to find this article. Look forward to your response.

  68. Tanya August 8, 2013 at 5:28 am # Reply

    Hi Dr Ben,
    Your mentioned the following “If you have recurrent pregnancy loss or are considering becoming pregnant, then I highly recommend you ask your doctor to test you AND your partner for the genes:
    •FVL – FVL2
    •ApoE2
    •PAI-1″
    I can not find these in my 23andme results put through mthfr support?.. are they called something else?

  69. Erika December 6, 2013 at 10:00 pm # Reply

    Hi Dr. Ben,

    My naturopath pointed me to your website to learn more about MTHFR. I had a PE 8 years ago due to simultaneous double foot surgery and birth control pills (I was totally immobilized for at least a week). Not knowing the symptoms of DVT I allowed the clot to travel to my lung. I was on Coumadin for 6 months and all of my blood tests came back negative for genetic clotting disorder.

    I am now 30 weeks pregnant and have had an incredibly healthy pregnancy. This is my first. I am very active, eat very healthfully, and see my naturopath regularly. My OB did run all clotting disorder tests, however, due to concern about my PE, and found that (I believe – since I am still very confused about the results and the lingo) I am compound heterozygous for the C677T and A1298C genes with normal homocysteine levels. My OB wanted me on baby aspirin, which I declined – I have supplemented with higher doses of high quality fish oils with high DHA levels. I remain very active. She also recommended a very high dose of folic acid (3-4mg per day) with no mention of taking methylated folate (which I started taking only in the last month after my naturopath mentioned it). All in-utero genetic tests have come back negative. Baby appears very healthy.

    My OB has told me over and over again that she highly recommends and urges that I take Heparin or Lovenox during my postpartum period because the risk of clotting is much higher. I am very resistant to taking these drugs because (a) I despised being on a blood thinner 8 years ago, (b) I am reluctant to introduce ANY chemicals into my body at this time, (c) I refuse to introduce any chemicals to my unborn and soon-to-be-born child. While “studies” show these drugs do not pass to baby, I am distrustful of the medical community for many reasons. Am I being totally irresponsible??? My research tells me the fish oils are as effective if not MORE effective at blood thinning than drugs. Perhaps I am just naïve.

    I guess I’m just confused about the compound heterozygous mutation. I am not finding anything useful in terms of information – even your site doesn’t discuss it all that much except to say that it can be serious. Serious how? Serious definitely? I almost feel that I am making myself sicker by worrying about this and that had I never learned about it then everything would have been fine. Do I NEED to be on Lovenox/Heparin postpartum? What kind of self-care should I be following at this point? I feel healthier than I have ever been in my life, but my doctors keep telling me I am not. I have nearly had it with the medical establishment, to be honest, because I feel like it is all about prevention (worrying about the worst case scenario to prevent law suits) and not about actual research and definitive answers.

    I appreciate your insights.

  70. Abby January 19, 2014 at 6:57 pm # Reply

    Hi Dr. Ben! After 4 miscarriages and one anencephalic(twin) my other twin is healthy. I decided to get tested for mthfr. I am heterozygous for c677t. I have always had low progesterone as well. With my twins I was on a suppository of progesterone from week 3-14. I am scared to attempt another pregnancy but want to desperately have one more child. I’ve heard that this mutation can cause down syndrome and other NTDs? If I take methyl folate and methyl b12 will that lower my odds ? I’m meeting with a maternal fetal medicine doctor in a week. I have no family history of downs or anencephaly besides my own anencephalic child. Please help! Thanks so much.

  71. Sally February 25, 2014 at 10:22 am # Reply

    Interesting. Thank you.

    I am homozygous for 03 P39P and A1298C.
    My oldest daughter is hetero for C677T, 03 P39P and A1298C.

    After her I had at least 4 miscarriages before successfully having her younger sister. Have not tested her younger sister yet, but at least she will be hetero for 03 P39P and A1298C.

    Father has not been tested yet. We are trying for 1 more, but have had several more suspected miscarriages already. Am focusing on the supplements now, aspirin and low dose steroid during first half of cycle and progesterone support after as well as being as healthy as I can.

    At least I have hope knowing that I just need to ‘wait’ for the baby with the viable genes…. and we’ve got 2 girls who are doing great from this waiting game…

  72. Nicole B February 25, 2014 at 4:48 pm # Reply

    My husband and I have been trying to conceive for over a year. I have had 3 miscarriages and finally changed doctors and he has ordered a slew of lab work. It came back that I am a compound carrier of both those MTHFR mutations. My homocysteine levels are normal as well. All labs ordered were normal except this one and my thyroxine. Hopefully this is my issue and it can now be address. I’m sure my age plays a role as I am 37 and trying to concieve for the first time in my life.

  73. stacy March 3, 2014 at 9:43 pm # Reply

    I have had 7 miscarriages(2 2nd trimester) and 3 live births. I was tested and am hetero C677T, homocysteine normal. The OB says this is not a contributing factor to m/c. My husband was just tested and is hetero C677T and FVL Ii hetero(A20210G). His B12 was very low. Can you please advise on whether that makes us more prone to m/c? Also, is there something we should do should do if we get pregnant again to increase our odds of a healthy baby and full pregnancy?

  74. Laura April 8, 2014 at 4:01 am # Reply

    Is this research still going?

    I’m adopted so I have no idea what my parents were.
    I was a big 8lbs baby, my mother was O- for blood type.

    I’ve had four, 1st trimester, miscarriages. And lost five babies.
    On my 3rd miscarriage they said I had mthfr and left it at that.
    I now just found out today that I have homozygous a1298c
    But I have gone almost my whole pregnancy without treatment. I am 39 weeks and have just started taking lovenox generic, once daily 40mg sq
    They say I’m at higher risk for having blood clots.
    Also noticed in the pregnancy, baby is the 15% of growth, and my uterus measures 34 weeks even though I’m 39. They say it’s constricting the baby from growing.

  75. Nikola May 23, 2014 at 4:29 pm # Reply

    Hi Dr. Ben
    I’m not quite sure where to start, I’m 28 yrs old and recently married. Me and my husband just suffered our first loss together, however I’ve had 6 other losses. All my pregnancies seem to end about the same time:6w, except for one, I had a little girl in 2008 but she had IUGR and stopped growing at 22w in the womb, died at 8 days old. We just found out I’m heterozygous c677t, but blood clotting tests are showing everything’s fine. I’ve been treated with both baby aspirin and heparin for two pregnancies,and progesterone in another, all ended up mc’s. I’m wondering if my c677t could be so deficient in folic acid to be causing this? I know I need to take Methylfolate and not folic acid now, didn’t know that before. Anyway, I have almost all of the symptoms of my mutation, so maybe? I just dnt know what else to look for, and my pregnancies have not been with the same man. My doctor wants to karotype me, but I don’t feel that’s the problem solely on my daughter. I so far, have no living children and I’m terrified of having another loss. My current doctor said there’s nothing that can be done at this point,besides keep trying till we have a baby that sticks. This scares me as I don’t want to be a woman with 20 some mc’s. I’ve been researching a lot since my last loss around Mother’s Day, of all days, my homocysteine was not checked, she said it wasn’t necessary as Heter c677t wouldn’t be causing my losses. Please help me figure this out, I have an appt with my first RE next month, but I’m still scared. Thank you

  76. lorenda September 2, 2014 at 4:16 pm # Reply

    Hello Dr I have c677t mutation and A1298c mutation . What can I do to get pregnant ? Every time I get pregnant it ends in mc at round 5 to 6 weeks and I’ve had 7 in 2 years still no baby :( my Dr had me take folic acid 4mg daily and a baby aspirin but so far nothing.

    • Lisa October 27, 2014 at 10:46 pm # Reply

      You might try a supplement with methylfolate (not folic acid) and methylcobalamin. I have both as well and kept miscarrying until I took these.

  77. Joie September 25, 2014 at 7:01 pm # Reply

    My N.D just discovered that I have MTHFR and am Heterozygous. I am 26 and have had 5 miscarriages, one early birth, and one living child of six years old. I have been through heavy metal poisoning, mold toxicity and severe chronic inflammations of the lymphatic system, it is really a miracle I am still alive. I am very excited, yes I said excited, to do research about this Genetic mutation and learn all I can. I have been through a lot and am hoping to find some answers. Thank you for being such a great resource and support of those suffering from this and seeking answers. I wish there was some thing more I could do to bring more understanding of MTHFR. Very grateful of your work, Joie

  78. Lisa October 27, 2014 at 10:45 pm # Reply

    My story is that I had 2 children with no issues at all, and then 1 miscarriage, followed by another healthy pregnancy full term birth 5 months later. Something happened… and then I miscarried 4 times in a row, one of which was a second trimester loss and no reason was detected. I suspected a clot of some kind as that might not have been found. I saw an RE who did a full thrombosis panel on me and discovered Compound Heterozygous MTHFR as the only issue. His response was to give me folgard.. nothing else. I tried it his way and I miscarried a 6th time (5th in a row). Then I felt compelled do to my research and I found your site and information from Dr. Rawlins and began to see that folgard was a bad idea. My RE refused to listen even when I tried to explain. I think a lot of good doctors are just too stubborn to listen to what new information there is in this field, and it’s developing so rapidly. I discovered Methylfolate and began taking 3.75mg of Methylfolate + Methylcobalamin combined sublingually, and trying to modify my diet to limit my exposure to regular folic acid. I refused to take prenatals with folic acid in them. This time, I carried my baby full term and she was born with no abnormalities at all. I feel that this happened because of knowing what my body needed. I don’t yet know what my husband’s DNA holds, or any of my children, nor do I know beyond the MTHFR compound Hetero polymorphism. I’m not even sure where to go to get this testing done because so many doctors look at me like I’m sprouting a tail when I bring this up. I didn’t just have a healthy baby finally… My depression is GONE, my chronic fatigue issues are GONE, my memory is back, and my neurological problems are now GONE. I live in Utah… but have no idea where I can go to seek more information and help.

Trackbacks/Pingbacks

  1. Recurrent Pregnancy Loss and MTHFR | | MTHFR.NetMTHFR.Net - June 7, 2012

    […] understand my point in detail, one must read this article on recurrent pregnancy loss and how it is important to identify the genetics of the man also – not just the […]

  2. Papas Get Tested, Too! « Call Me Myrtle! - January 27, 2013

    […] so I’ve been researching again. I came across an eye opening article posted by Dr. Ben, “Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consid…. In it, he talks about the importance of having fathers tested for MTHFR mutations as well. This […]

  3. Preparing For Pregnancy With MTHFR Mutations • MTHFR Living - November 13, 2013

    […] many of these miscarriages are recurring and this can be due to other genetic factors influencing repeat pregnancy loss (RPL). As Dr. Lynch points out, it will be important to test both the father and the mother in […]

  4. Girl sways and being dairy-free? - Page 2 - June 22, 2014

    […] mutation. This is a great article from MTHFR.net about how a dad's MTHFR status is important too: Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consider This… Adoring our gorgeous (2007) and (2013) Missing (2006) and (2012) *Might* be TTC a 3rd […]

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