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 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.
For more information on what to do with MTHFR and Pregnancy, read this article.

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9 years ago

Just a heads up…your body may need more methyl folate (among other vitamins) than is in the prenatal-this is made for a normal woman,not one who suffers from recurrent miscarriages.
Dr Ben says that every individual differs at what amount of methfolate their body needs. He recommends that a woman with recurrent miscarriages should easily be able to handle at least 2mg of methfolate per day. We need more than the normal woman.
I myself take approx 2mg. It’s also great to take bilingually-under the tongue as this ensures even better absorption (due to our inability to absorb). So while taking a prenatal is crucial you may need that bit more due to the miscarriages-this is why I take Thorne prenatal (as it stocks in Aust and has active folate B12 and B6-all important) along with Dr Bens bilingual methyl folate and Active B12.
Just keep that in mind and good luck to u,

9 years ago

I’ve been scouring the internet for some help, and I hope you can help me or perhaps point me in the right direction! My first pregnancy went smoothly and I gave birth to a nearly 10lb son, after which I suffered severe hemorrhaging and needed two units of blood. I am pregnant again (with no problems getting pregnant either time). I know my son has a compound heterozygous mutation which means I’m also a mutant. 🙂

I am trying to find ways to decrease my odds of major postpartum bleeding this time around, and many of the more natural remedies include taking vitamin K, either in supplement or in teas and such, to help thicken the blood and reduce excess bleeding. I am concerned that with a mthfr mutation (not sure which one) that anything working to help clot my blood is a bad idea. My midwife echoed this same concern. How can I help prevent postpartum hemorrhage without also risking blood clotting? I am currently taking fermented cod liver oil and plan to quit it about 35 weeks along so I’m not getting that blood thinning effect. Any help you can give would be amazing. I have been trying in vain for weeks to find an answer to this, and the specialist doc I saw about it had no idea what he was talking about when it came to mthfr. Thank you!!

8 years ago

Hi Dr Lynch,
My name is Yasmine and I’m writing from New York City. I have been trying to conceive for 5 years. I am 40 and will be most likely doing IVF. I am seeing a great reproductive endocrinologist for my hashimotos insulin resistance and mthfr homozygous a1298c mutation. I have been educating myself with the vast helpful info on your site and I thank you. My question for you is are you familiar with the prescribed medical food called DEPLIN? I am on day 7 of the 15mg dosage. It’s l-methyl folate. I’m concerned about the high dosage and was wondering if you could provide any feedback on DEPLIN. Thank you so much for what you do.

Yasmine M

Dr. Aron
8 years ago
Reply to  Yasmine

Yasmine – It’s great to hear you are working with a doctor you can trust. Here is more information for you and your doctor to discuss together.

Prenatal supplementation: Also,

Dr. Lynch also did a review of deplin along with other medications/supplements:

Before you start with methylfolate supplementation, this article on preventing methylfolate side effects is something to consider as well:

Wishing you all the best. Please keep us updated.

8 years ago

Is there any corrolation between Methylation Pathway defects/mutations and Pyroluria?
Thank you!

7 years ago

Hi Dr. Ben,
I’m really hoping you can help me out with a question that I can’t seem to find the answer for anywhere.
I am 1298C homozygous, no copies of C677T. I have been taking a b-complex with the active forms of the vitamins, but now I wanted to introduce choline into my system since I will be trying for another baby soon. Is it recommended to take just regular choline? or should it be phosphatidylcholine?
also, my son is at least heterozygous for 1298 mthfr gene, should he be getting any supplements?
thanks in advance for your help,

7 years ago

Hi, I’ve just looked up my raw data from 23 and me and came back with MTHFR 1298CC, the double mutation. I have had 2 early miscarriages and wondering what my best options are for this to have a healthy pregnancy.
Thank you

7 years ago

Hi Dr. Lynch

I had a miscarriage in 2011 at 9 weeks, and then had a wonderful pregnancy with my son shortly thereafter. Fast forward to this year — I was diagnosed with PCOS and prescribed Metformin. It seems to be managing my very light symptoms well and helped me to manage my cycles in order to become pregnant. In October, I experienced another miscarriage at 9 weeks. HCG was very low from the start and measurements were behind by five days at an ultrasound at 7 weeks. At my nine week ultrasound, there was no heartbest and no change in measurements. We asked for testing and were referred to a reproductive specialist, but the wait is four months! In the meantime, I’ve tried my best to get to the bottom of what is going on. I did a 23andMe test and ran it through Genetic Genie. It turns out I have a homozygous C677T mutation. Since my local doctors don’t seem to get it, I consulted with an OBGYN out of the area. He tested my homocysteine level, which is a 6.5.

Prior to the 23andMe testing, I started on baby aspirin and Thorne Basic Prenatal, just in case. I had some back pain that flared up right before starting the prenatal, which worsened the longer I took it. However, my mood and anxiety level (which can be fairly high) was awesome! For about three weeks. Then, the back pain became very bad, I felt terribly depressed, and extremely irritable. It took a bit, but I eventually realized I was not reacting well to the prenatal. I stopped it and my symptoms started to improve. Currently, I’m four days removed from the pill and am feeling better each day. Prior to this realization, the doctor I’ve been consulting with prescribed me Neevo. It’s still sitting at the pharmacy because I’m afraid to take it! I have a message in to the doctor about this and he will probably respond tomorrow, but I’m not sure what to expect.

I want to start over with the proper supplementation but feel very confused about what to do. I’m also a little scared because I don’t want to feel so awful ever again. What do you think?

7 years ago

Should I be taking a baby aspirin while trying to conceive? I am compound hetero and I have had mixed reviews from different doctors. I don’t know what to trust anymore.

Jeannette Bishop
6 years ago

Thank you for this information. Question, is it accurate to label mutations as common as 1 in 4, or even 1 in 2 as a “defect?” Further did we observe the development of this “mutation?” It seems to me that we must either be labelling a variation a defect under influence of the mindset of eugenicists, or we might be witnessing a serious outcome of rather indiscriminate use of genotoxic interventions and are not making the efforts required to prevent further harm.

6 years ago

Hello, I’ve been diagnosed with MTHFR c.1286A>C variant: PRESENT [HOMOZYGOTE].
I’ve also been trying to get pregnant for 4 years with no result. I didn’t have any miscarriages, ever.
I would like to ask you what prenatal supplements do you advise me to take and for how long before trying to conceive.
What other everyday life aspects should I give special attention to?
I mention that I already eat only organic food, fertility diet, no dairy, gluten free, no house chemicals and chemical free cosmetics.

6 years ago

Dr. Lynch, I had a successful pregnancy with my first pregnancy 4 years ago even though I was diagnosed IUGR. They did an early c section at 38.5 weeks. I wasn’t so lucky with my second pregnancy. I was 36 weeks pregnant when the baby’s heart stopped at a routine office visit. They were able to revive her but she suffered IVh blood bleed to the brain very severe. She did not make it. I just got testing through an iVF specialist. He found I have the gene c677t mutation. I want to get pregnant in the summer. What do you recommend? The doctors say there is nothing wrong with me genetically or physically.

6 years ago

Dr. Lynch,
I do not tolerate the methylated B’s well. Wondering if a organic pernatal with “folate from organic food sources” will suffice?I called the company to confirm. They said there is no folic acid in this vitamin and the folate is definitely from food sources…..would love a little feedback on this…

5 years ago

Hello Dr,
I have mutation mthfr homozygous, what should I do ?
Must I take folic acid or methyle folate
I did 2 failure ivf and after I knew about my muted gene .can I have normal pregnancy if I takel a medication with supplement

5 years ago

i am 40 yrs old. i have two children ages 20&15 (no pregnancy problems with either) I have been diagnosed with pcos and after two recent miscarriages i was told i have the MTHFR gene mutations. My results came back as MTHFR C677T Heterozygous positive. I do have normal homocysteine levels. I would love to have another child but want to make sure i am taking care of my body. I was told by my ob to take baby aspirin. I noticed someone on the comments mention not doing well with prenatal vitamins, i as well noticed that i dont do well with them. what are your suggestions? i greatly appreciate any help you can give me.

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