MTHFR – How 1 in 4 Pregnancies May Be Affected

MTHFR - How 1 in 4 Pregnancies May Be Affected

MTHFR Gene Mutation

Written by Dr Benjamin Lynch

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. What the?!

What Is MTHFR?

No, it’s not a swear word!

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

How Common Is The Mutation?

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

Currently, there are over 5,000 studies on it, so it’s certainly nothing new.

Why Is MTHFR Mutation a problem?

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 one 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.

How Do I Get Tested?

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
  • A child with Down Syndrome or autism
  • Postpartum depression
  • Chronic depression
  • A family history of any of the above

… then a MTHFR genetic test is highly recommended.

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

But 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.

If I Have The Mutation, Should I Stop Taking Folic Acid?

Yes — it should be stopped and replaced with folinic acid and methylfolate. You can find folinic acid here.

How Do I Reduce The Risks?

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
  • Supplement with active forms of folate such as methylfolate and folinic acid (see a top rated formula for MTHFR here). 
  • 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 soy lecithin. One in five women are deficient in choline, which is a critical nutrient for brain development.

Doctor Benjamin Lynch has a degree in Cell and Molecular Biology, BS from the University of Washington, and also has a Doctorate in Naturopathic Medicine. Find out more from Doctor Ben Lynch’s website here.

The TRUTH About Natural Birth
Want To Know What Hospital Birth Classes WON’T Tell You?
Click to find out more!
  • 322



  1. Since feb 2014 I startedtaking folic acid, as trying to concieve, however after a few weeks my lips became very sore, dry and peeling. I didn’t put this down to taking folic acid at this time. In April I stopped taking folic acid. Roughly 3 weeks later I concieved and my lips healed. After I found out I was pregnant I began taking folic acid again. I had a miscarriage and my lips began to get sore again. I still did not think it may be folic acid. Six months later of taking folic acid I decided it may be the folic acid causing my rash on lips. I stopped it, the next month I concieved again.

    1. Congratulations! That’s amazing. It seems to be a wide spread problem, and it can impact so many people. Synthetics of any kind are best avoided, as you discovered. Enjoy x

  2. This is one of my most commonly ordered tests, and I prefer all of my clients to be tested when they first see me. It is a simple buchal swap (sample of inner cheek cells taken with a tiny brush) and it costs $50 here in Australia. Results are in within a fortnight and I can remedy their diagnosis accordingly. Treatment with an activated folate (folinic acid, calcium folinate or methyl folate) makes a huge difference with their chance of conceiving, and has a massive impact on preventing miscarriage. Conventional GPs and fertility specialists are finally starting to accept the importance of this test, and I am now seeing more patients being tested by their doctors. Definitely a first port of call in unexplained infertility and recurrent miscarriage. Nicole Tracy Naturopath

    1. Hi Nicole,

      My girlfriend is 7 weeks pregnant and was a heavy smoker, drinker and took several narcotic medications for back problems. She had no clue she was pregnant and has taken no prenatal vitamins at at, not to mention that her diet sucks too. She tested positive for reduced MTHFR activity and I am terrified of birth defects, disability or miscarriage. I know you would need to test but based on the info i provided above, is this a risky pregnancy? Thanks so much for any advice you can provide.


  3. We have tube issues but conceived my son and gave birth to him with no problems BUT since him we have had 3 losses and 1 before him. Can this be the cause even though we have our son?

    1. MTHFR is related to neural tube defects and midline defects, so I’d say it could definitely be an issue. I’m not a qualified person but I’ve done a lot of reading since being diagnosed and that’s what I’ve read.

  4. Hi name is Meg and I have been just diagnoised with this at 11 weeks pregnancy. My OB advised to take 5 mg of Folate, and B6. I am very anxious that the baby has already been impacted with the difieciency. Can you please confirm if I am fine with the medications prescribed…thank you.

  5. Hi doctor, I had a blighted ovum. Blood test done with mthfr compound heterozygous. My serum folate level is 34.6. Is my folate level considered high with unmetabolized folic acid in my body? I consumed elevit for two months prior to trying and ended up with a miscarriage. Please advise as I could not find any research on unmetabolized folic acid and how to get rid of it. Thank you.

  6. How long it is needed to get rid of unmetaboliszed folic acid and get homocystiene back to normal levels on average?
    What is the regimen of supplements needed during pregnancy?

Leave a Reply

Please note: in order to prevent spam and inappropriate language, all comments are moderated before they appear. We appreciate your patience awaiting approval. BellyBelly receives many comments every day, and we are unable to approve them all as soon as they are posted.

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

loaded font roboto