Is MTHFR Affecting Your Pregnancy?

You’ve finally decided it is time to become a loving parent.

Birth control has stopped, prenatal vitamins have begun and reading baby books has become a new hobby.

After a few months, you’re starting to wonder why you’re not conceiving.

A trip to the infertility specialist is made and the results come in.

You have a MTHFR genetic defect.


MTHFR is a very common genetic defect that affects approximately 1 in 4 people seriously and nearly 1 in 2 people mildly.

The MTHFR gene has a simple, but highly critical, function surrounding how your body utilizes folic acid and other forms of folate.

Those with the variant of MTHFR called C667T have a 40% to 60% decreased ability to produce the body’s most active form of folate called methylfolate.

Methylfolate is a critical nutrient affecting neurotransmitter production, DNA regulation, immunity and and the cardiovascular system. Indirectly, methylfolate affects hormone levels and detoxification.

How can the MTHFR gene affect so many bodily systems?

This gene resides in each and every cell of your body producing the end product, methylfolate.

Methylfolate is the nutrient which starts a series of countless critical enzymatic reactions.

Let’s discuss one such critical enzymatic reaction to put MTHFR into perspective.

MTHFR is the first step in producing a critical compound called s-adenosylmethionine, commonly known as SAMe. SAMe is needed to produce CoQ10, carnitine and creatine. These same nutrients are recommended in those undergoing complementary and alternative medicine infertility treatments.

Let’s point out another one.

Elevated homocysteine is a commonly known risk factor contributing to recurrent pregnancy loss, preeclampsia, infertility, Down Syndrome and other serious concerns surrounding pregnancy.

The MTHFR C677T gene defect significantly contributes to elevated homocysteine.

Homocysteine is a by-product of SAMe. Methylfolate, along with its companion methylcobalamin, help convert harmful homocysteine into beneficial methionine which then helps produce SAMe. The cycle goes round and round happily as long as a functioning MTHFR gene produces methylfolate.

In the absence of sufficient methylfolate, homocysteine levels may rise to a harmful level.

Given the grave consequences of a poorly functioning MTHFR gene, those wanting to become parents should seriously consider screening for the MTHFR genetic defect.

Testing for the MTHFR genetic defect is easy.

Simply ask your doctor to order a MTHFR genetic test through your local laboratory.

If you have, or have had, elevated homocysteine, recurrent pregnancy loss, infertility, preeclampsia, child with Down Syndrome, autism, postpartum depression, chronic depression or a family history of any of those, a MTHFR genetic test is highly recommended.

Identifying yourself as a potential mutant is scary. No one wants to have a genetic defect.

Let me ask you this.

Would you rather have increased risk of recurrent pregnancy loss, preeclampsia, child with Down Syndrome, child with autism, intense postpartum depression; or, would you rather identify a common cause of all these serious conditions and be able to greatly reduce the risk of all them?

You can.

Ask your doctor today to order a MTHFR genetic test and blood homocysteine level.

The beautiful thing is if you do test positive for the MTHFR C677T variant, there are countless protective and proactive measures you can apply immediately.

Take protective measures on a daily basis:

  • Eat organic and non-GMO foods
  • Reduce your intake of synthetic folic acid as the MTHFR enzyme does not convert it well to active methylfolate
  • Increase natural food folates found in uncooked leafy greens
  • Use a prenatal with active forms of folate such as methylfolate and folinic acid
  • Consider additional nutrients such as carnitine, CoQ10, DHA, krill oil. Probiotics, vitamin C, magnesium and phosphatidylcholine
  • Eat well-balanced meals with protein
  • If vegan, talk with your doctor about supplementing with methylcobalamin, an active form of vitamin B12, along with choline. One in five women are deficient in choline, which is a critical nutrient for brain development.


11 Responses to “Is MTHFR Affecting Your Pregnancy?”

  1. Jenny May 25, 2013 at 7:38 am # Reply

    Hi doctor Ben! PLEASE HELP! I just got diagnosed with this…and might be pregnant as we have been TTC! What are the chances of the fetus being ok, I’ve read a lot about this since yesterday when I heard I had this and I realize that I could be in big trouble if it turns out that I’m pregnant (I’ve had 2 miscarriages past 6 months). I tend to easily conceive so I think my chances are high. My ob is not available till tuesday( if shell even be free to see me) and my fetal specialist is on vaca! ( great timing!). So please I need your help, I am going on 9DPO and usually test at 12DPO which will be on Tuesday. I ordered the throne prenatals you recommended they should arrive Saturday but I’m so afraid that my homocysteine levels will be too high and of I’m pregnant it’ll be too late to decrease them?????
    Btw I already send you a message in your fb page lol ok sorry I’m just desperate for answers.

    Thanks a lot, Jenny

  2. Sarah May 31, 2013 at 2:20 am # Reply

    Hi, Dr. Ben!
    I just found out yesterday that I have the hetero of the A1298c mutation along with an abnormal testing for THAB or antithyroid antibody and also high nk cell level. A quick history on me…..I’m a gestational surrogate and had 1 frozen embryo transfered. Received the BFP and carried to 6w3d and at that point the embryo stopped growing. Had a d&c done and karyotyping of fetus was ordered which came back normal. Then bloodwork was ordered on me for possible immune issues and found out about these abnormalities. I was on a prescribed prenatal but no additional vitamins beyond that. What vitamins and supplements should I be on before we attempt transfer again? Specific foods to avoid? I have a phone consult with the RE set up for tomorrow. have high stress levels, brain fog, slight depression at times, anxiety and have suffered from headaches and migraines since 13 years of age (I’m now 31). It all makes sense now on symptoms as I was always just put on meds for migraines and they were never looked into beyond that. Any help and advice is appreciated.

  3. Angela June 10, 2013 at 10:49 pm # Reply

    Hi Dr Ben. Its Angela here. Thanks to your site I’m learning so much as a practitioner, so thanks you from the bottom of my heart! Talk about lightbulb moment, when I found your site! I’m also just about to contact sterling at the site, who sings your praises through a client I have over in the UK. I wondered if you had any views on the products below to help in a maintenance programme for those with low absorption rates who are likely to have either 1 or 2 copies of MTHFR.

    Or even if you are bringing out a similar product?

    It doesn’t give dosage out, so I am in the process of contacting them and as I’m over in the UK is difficult to know who are the ‘gurus’ are in this area. As far as I know its you and Tim Jackson.

    Sorry to use your comments page as a practitioner, but it might be worth looking into having a forum for practitioners as things are beginning to ‘wake up’ a little over in the UK around this issue, but there are still very few nutritionists who don’t know anything about this issue at all!

    I have passed your details onto one of the buyers who is a friend who works in the Nutri Centre UK one of the leading health shop for supplements. It sells the best selection of supplements from around the world, and is by far the best company I have seen so far as a nutritionist so I will see what the outcome is. Always promoting you to people in my field too!

    Best wishes


  4. Kiarni June 11, 2013 at 4:19 pm # Reply

    Hey Dr Ben,
    Your website is so useful for me over here in Australia:) Doctors over here are just not very interested yet about this, and dont think its so relevant and therefore I am not receiving the correct help.

    I am currently trying to get through the extensive amount of info on your site so my partner and I can get onto the right supplements, but I am hoping you may read this and have a chance to be able to provide your thoughts and advice on what we should be on to start with.

    I am 30 years old and my partner is 29. We have both recently been found to have identical mutations-c677T and a1298C.
    We have been trying to conceive for seven years, have had six attempts with IVf and I have had four miscarriages. Not long after being diagnosed with MTHFR (of which we know NOTHING about or ever heard of-but this is the ONE and ONLY thing that has come up through our extensive testing!!) we had our homocysteine tested- I was at 9.1 and my partner was at 9.7 umol/L. Doctors here say this is normal range…what are your thoughts?Basically the more I read about this the more I am convinced the MTHFR is the, if not one of, the main issues with us conceiving. Basically at the moment all I need to know is what medication/supplements we should be on and any brands you recommend???
    Aussie doctors just are not informed enough to be able to provide this advice, and I am not prepared to lose any more angels…so I will not try again until I have this covered. We also have various other deficiencies- me: low in zinc, iron, bicarbonates, cortisol, urinary iodine, thyroid is sluggish, and my partner: elevated cortisol, liver enzymes, cholesterol, tryglycerides, and also low in zinc, iodine, and testosterone levels low. So I am after something that will cover our MTHFR and also our other deficiencies. What I am scared of, doing this on my own, is getting the wrong information, and getting the correct dosages, over-supplementing, not getting onto the right ones and miscarrying again.

    I have read what others with our mutations are on…should we follow this, and just take a basic multivitamin in addition?(so, methylfolate, B vitamins and also a multivitamin??) is there such a thing as over-doing it with our B vitamins, and other supplements with this?
    Its all so confusing for me, and having doctors that just dont help is frustrating when youve been trying so long and risking yet another loss…
    If you could provide any help at all with this we would so greatly appreciate:)I know you must be a very busy, highly sought after man, but any assistance would be great!

    Youre doing such great work, please keep it up for all of us out here who need your help with this!

    And anyone out there who is also going through a similar journey to mine I would love to chat with…..let me know and I can provide my personal email address….

    Thanks and hope to hear from you soon,

  5. Kiarni June 11, 2013 at 4:23 pm # Reply

    Sorry Dr Ben….

    I also wanted to add that I have sufferred from depression, really down days and then good days, severe lack of energy, addiction problems, inability to function properly, and just feeling drained for years now too…..thanks so much and hope to get some feedback as Im at a loss of the path to take from here…

  6. Angela Heap June 14, 2013 at 4:28 pm # Reply

    Hi Kirani

    Have you tried this:

    They might be of some help if Dr Ben is too busy, as I know he is flat out.



    • Kiarni July 20, 2013 at 2:48 pm # Reply

      Hey Angela,

      So sorry for such a late reply…
      I just want to say a big thankyou for your recommendation. Here in Australia i just cant find doctors who are well enough informed about this…and in this situation its so so frustrating!!
      Thanks again,all us mthfr people have to stick together and share info dont we!!!;)ha..
      Take care

  7. Olivia July 5, 2013 at 8:10 am # Reply

    Dr. Ben,
    I just wanted to send a big thank you from the bottom of my heart. I have MTHFR A1298 and C677T (whole other story). I have been having a terrible problem with frequent urination for about 2 years now. I don’t have any infections or other problems, so the reason for this frequent urination has been unknown. I was going to the bathroom to pee (sorry) sometimes up to 15 – 20 times a day! My husband and I are trying to have a second baby so I read the above article. I take vitamins so I paid close attention. I noticed the last sentence about choline. I’ve never taken choline before and wasn’t familiar with it so I did some research. I read something about choline deficiencies causing a problem with concentrating urine. I thought I’d give it a try to see what happened and after only a short time I no longer have my problem! Since it’s the only change I made I think it is the choline. In fact, today I only went to the bathroom 4 times! I wasn’t expecting to find anything that could help me with this problem here but I am so grateful I did.
    Thank you!

    • seph August 1, 2013 at 6:46 am # Reply

      Hi Olivia, what supplement did you take?

      • Olivia August 1, 2013 at 7:10 pm # Reply

        Keep in mind I’m not a doctor so I’m in no position to recommend anything, but I learned there are different types of choline out there and it’s important you take the right one for what you are trying to achieve. After some study, I chose Phosphatidyl Choline and I take 2 once a day, as per the bottle’s instructions. The brand I chose for myself was Solgar, which are in glass, gluten, wheat, and dairy free. This is important to me. I had to ask for it in the store because for some reason it wasn’t by the other choline bottles. Are you having the same problem? I sometimes forget and skip a day but as long as I keep taking them it seems to help me. I’m no longer looking for a bathroom all the time! It’s the only change I’ve made to my supplements and/or diet. I take a lot of supplements at the moment because we will be trying for another baby soon. Because of my age I’m doing IVF. Are you also trying to have a baby?

  8. Deb September 10, 2013 at 2:47 am # Reply

    Dr. Ben or anyone who can help….
    Thank you so much for your helpful website!!
    I am homozygous for A1298C.
    I have had 3 children and no miscarriages…thankfully….but have terrible nausea and vomiting through the whole pregnancies with the 2 girls and until 16 wks with the boy. I though I remembered a post where you mentioned how to fix this.
    We would like to have more children…yes, really…but the sickness is so bad that it is very hard on the whole family.
    Any advice?

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