Pregnancy, Miscarriages and MTHFR

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Pregnancy, Miscarriages and MTHFR

pregnancy, miscarriage, miscarriage causes, risk of miscarriage, MTHFR and pregnancy, miscarriage and MTHFR, folic acid, methylfolate, genetic mutations, genetic testing, genetic treatments, MTHFR, MTHFR mutations, SNP, single-nucleotide polymorphism, healthy pregnancy

Dr. Doni, naturopathic doctor and midwife, explains how MTHFR increases risk of miscarriage and how to get the right kind of support for your pregnancy.

Part 6 of Dr. Doni’s Series on How Genetic Mutations Affect Your Health

pregnancy, miscarriage, miscarriage causes, risk of miscarriage, MTHFR and pregnancy, miscarriage and MTHFR, folic acid, methylfolate, genetic mutations, genetic testing, genetic treatments, MTHFR, MTHFR mutations, SNP, single-nucleotide polymorphism, healthy pregnancyThis article is part 6 of a series on how genetic mutations affect our health. The first five articles describe genetic mutations (SNPs), how to test for them, and how they affect the methylation cycle and mood. If you missed any of these posts and wish to catch up, click the link above.

MTHFR and Pregnancy

This week I want to discuss how undiagnosed MTHFR mutations can affect your chances of getting pregnant and how you can increase your chances of conceiving and having a healthy pregnancy even if you are affected.

One of the most rewarding parts of my practice is helping women conceive a pregnancy. This is because so many women go through years of trying everything including seeing numerous practitioners, sometimes all at once, in order to get pregnant. So when it happens, it is extremely exciting. When it doesn’t happen, it is one of the most difficult challenges for a woman to face.

I hear story after story of women who have had four, five, or more miscarriages—without any understanding of why it was happening. Others had babies with spina bifida, Down’s syndrome, and/or other birth defects in spite of following all the advice for a healthy pregnancy and taking their folic acid regularly. In many of these cases, the culprit is an undiagnosed MTHFR mutation that they were either never tested for or only learned about when it was too late.

What is MTHFR?

MTHFR is an enzyme that turns folic acid into folate. If you have a genetic mutation on the gene that creates the MTHFR enzyme, it means that your body will be less able to use folic acid to benefit your health. Instead, you are left with an increased risk of miscarriage, as well as many other potential health issues such as fatigue, headaches, anxiety, depression, and more. Read more about MTHFR here.

Thankfully, more practitioners—and especially fertility specialists—are becoming aware of MTHFR and the role it plays in early pregnancy. We’ve heard for decades that it is important for women to take folic acid, but that was either downright wrong or only partially helpful. All along it was methylfolate that was the missing piece of the puzzle.

Folate is extremely important for the creation of new cells so it makes all the sense in the world that you need extra in early pregnancy when you consider that babies are 100% new cells. Folate is especially important for the development of a baby’s nervous system, which occurs within the first few weeks of pregnancy, often before a woman even knows she is pregnant. If she does not have enough folate available to help support this crucial stage in her baby’s development, by the time she gets to the 6th or 7th week of pregnancy (2 or 3 weeks after missing a period), a miscarriage can occur.

When this happens, many women are left feeling as if it is all their fault. They feel ashamed, embarrassed, isolated, and confused, wondering why their body is not able to maintain a pregnancy. But it’s not their fault. The problem is that many doctors are not trained to even look for MTHFR mutations never mind treat them. This is exactly why I specialize in MTHFR and helping women conceive.

In fact, I not only help women get pregnant, but also to get healthy prior to conceiving and then to support energy, sleep, mood, and nutrition throughout their pregnancy. Just as we discussed in my article last week, mood can be greatly affected by MTHFR mutations, and many women would prefer to avoid prescription medication for anxiety and depression while trying to conceive and while pregnant and breastfeeding. All of this is possible by understanding your genetic mutations, cortisol, and neurotransmitter levels, and supporting your body with nutrients that are not only safe during pregnancy, but essential.

The need to understand the effect of the MTHFR mutation on your health only gains more power when we consider that the health of a mom (and dad too, by the way) when she conceives a pregnancy influences the health of her baby for the rest of his/her life. So it’s not just about avoiding a miscarriage. It’s about helping moms be as healthy as they can be so their children, and their children’s children, can be healthier no matter what comes their way in life.

What can you do about it?

If you know that you have an MTHFR mutation, what you need to know when choosing a practitioner is whether they are familiar with and have experience helping patients with the mutation. Even if your prenatal care provider (whether an OB or midwife) does not have experience, if you choose a naturopathic doctor to support you alongside your prenatal care with the right amount of the right nutrients, you’re more likely to be successful in your quest to become pregnant.

To read more about how to support MTHFR and your methylation cycle, click here.

If you don’t know whether you have an MTHFR mutation, but you suspect that perhaps you do, then your next step is to do a test and find out. You can either request that your practitioner test for it in a blood test; just know going into it that insurance often does not cover this test, so be prepared to pay out of pocket. Or—and this is often the next step anyway—you can do a genetic panel, such as through 23andme, and run your genetic data through a reporting system that can tell you whether you have MTHFR mutations and/or any other significant SNPs. Read all about the testing process here.

I encourage you to be your own health advocate and love that you are reading this article to learn more. At the same time though, it can definitely be worth your while to find a practitioner to help walk you through this process, whether you are testing for MTHFR mutations or if you know already you have one and are looking to address it.

It is exactly for this reason that I created a consultation and test package for genetic profiling. It includes the tests and consultations that have helped other women in my practice. The package includes an initial consultation, so that I can get to know you and your case, as well as the testing I mention here, for genetic mutations and the tests that help us know how the mutations are affecting your body. It also includes follow-up consultations, email support, and discounted rates on any supplements I recommend during the program. You can find out about the package here and if you prefer to talk it through with me first, you can set up a “Get Acquainted” call here.

I’d be happy to help you address MTHFR and to prepare for a healthy pregnancy. Just a few weeks ago we had a “baby boom” in my office with six new babies born within a few weeks of each other. All of those moms were taking methylfolate before and during their pregnancy, along with the supplements* I include in my Pregnancy Solutions Protocol.

What is your experience with MTHFR and miscarriage? Have you or someone you know been affected by not knowing you needed methylfolate? Please share your comments below.

And to continue learning about how genetic mutations may be affecting your health, you can subscribe to my blog in the right margin or to my newsletter below.

–Dr. Doni
23rd April 2015


*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.

Photo credit: “Baby Bump Photo Shoot: David & Sarah’s Pregnancy Session” by David Veksler is licensed under CC BY-SA 2.0. Changed from original: Added text overlays.

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  1. Hi Dr. Doni-
    I’m looking into Thorne prenatals, but concerned about the amount of vitamin k. Is vitamin k contraindicated for those with mthfr? I eat a lot of leafy greens, have no other clotting factors, and my homocysteine is currently at 11. I need to start supplementing with methylfolate still and will add the prenatal after. Thoughts on vitamin k? Do you recommend a specific prenatal? Thank you!!!

  2. Hello Dr. Doni,

    Why do you recommend taking the 5-MTHF in addition to the prenatal with 1000 of folate? I’m already on the Thorne prenatal. I’m compound heterozygous and have suffered multiple unexplained recurrent miscarriages. Can I get too much folate?

    Jackie Morgan

    • Hello Jackie,

      I recommend 5MTHF in addition to prenatal because research suggests that women need 5 mg of 5MTHF for conception. Basically, when it comes to preventing miscarriage and neural tube defects, more folate is better…and it seems that 5 mg is about the perfect amount.

      Now it is important to keep in mind that not everyone feels good at 5 mg. So I’d say to increase gradually, notice how you feel, and reach out to work with a practitioner (like me) if you need more help.

      Dr. Doni

  3. Hi Dr Doni,

    Following two early miscarriages (one 5 weeks, one 6 weeks), I had some fertility testing which showed I was MTHFR homozygous C677T. Subsequent tests showed my homocysteine is within normal range but my Red Cell Folate and Active B12 are both slightly higher than normal.

    I also have very high mercury levels and I will be starting chelation therapy soon.

    My nutritionist has changed my supplement plan for me to take into account the above though my fertility doctor recommends 1.5mgs of folic acid daily. I know he’s an expert in fertility but isn’t folic acid bad? Should I be taking methylfolate instead? I’ve been left quite confused by differing opinions. If my folate levels are higher than average, is it more likely that the MTHFR mutation wasn’t the reason for my miscarriages?

    I would appreciate your take on this.

    Thank you in advance,

    • Hello Caroline,
      It can be a very confusing situation, and not many exact answers exist. Yes, I’d suggest methylfolate over folic acid, but many practitioners are not yet informed about this option. It is important to work with someone who can help you try out folate and observe for how your body does with it. The labs need to be evaluated more specifically – the ranges are not enough in this situation.

      Dr. Doni

  4. Hello Dr. Doni,

    I am homzygous A1298C and have experienced 5 miscarriages and am in the middle of my 6th at the moment. I was seeing a military doctor for awhile and then asked to be seen by a specialist since he wouldn’t do the correct tests. The fertility doctor seemed to be on the right track with giving me Folbee+, 400 mg of Progesterone, and 81 mg of Aspirin but I have now had 2 miscarriages on that regimen. With this last pregnancy I immediately went to see a new doctor because we had just moved and she flat out told me to stop taking progesterone, and that there was nothing she was going to do to help keep this pregnancy. My HCG level rise very slowly and I have not gotten over 400 with any of my pregnancy losses. I do have a 3 year old and did not have problems conceiving him. I got rid of the latest doctor I had because she told me that I shouldn’t be upset or cry over losses and she completely dismissed MTHFR as a reason. My new doctor I see first thing in the morning even though it is technically too late for this pregnancy. What would you recommend to help keep another pregnancy from being a loss? I am at my wits end with doctors dismissing my MTHFR issue and saying to relax and just keep trying.

    Thank you for your time,

    • I’m sorry for your losses Kimberly, and for the difficulties you’ve experienced with medical care. It sounds like I need to write an article about preventing miscarriage – I help a lot of women with that in my practice. It is a bit much to write about here, and really best is for us to meet so I can help you specifically. We can meet by phone – find more info at

  5. Hello Dr. Doni,

    Need help! I have experienced 3 early miscarriages (8 weeks, 7 weeks, 6 weeks) and I am currently 6 weeks pregnant with my 4th pregnancy. About a week ago (during 5th week of pregnancy) I got my test results back that showed I was positive for 2 copies (homozygous) of A1289C MTHFR mutation. I also have Factor V, PAI-1 4G/4G, and my homocysteine level was 10.4 – my doctor has me on a baby aspirin, methylated B6 & B12, and 1 mg of Folate (400 mcg as Folic Acid, and 600 mcg as Metafolin) I have an appointment with a high risk OBGYN today to determine if I need to be on blood thinners. Given my multiple blood clotting disorders and MTHFR being known to increase risk of blood clots, I assume I will need to be on a blood thinner sooner than later. My question is more in regards to if this baby will be healthy, although I know you cannot predict that. My question is – because I have 2 copies of the gene mutation, does my body process folic acid at all since my C gene is normal? Is there a chance this egg is healthy? From what I’ve read, just because you have the MTHFR gene mutation doesn’t mean that your body doesn’t process any folic acid at all, but rather has a difficult time and only processes it up to 30% or whatever percentage your body is able to. My HCG numbers have been doubling correctly and they saw the perfect yolk sac, embryo, and heart rate of 102 yesterday by ultrasound (to which none of these things have ever happened with my 3 previous pregnancies) I know it is typically better to start this MTHFR regimen well before conception, but since I wasn’t able to – will that significantly increase the chances of this baby having birth defects?

    • Yes, your body will process folic acid some – the homozygous mutation is considered to decrease function by about 70%. And now that you are taking methylfolate, that folate will be used right away. I hope things are going okay. It is hard to say what the increased risk is, but it very good that they found the mutation and started addressing it as soon as possible. That gives you the best chances with this pregnancy. I’m thinking that you could speak with your doctors about increasing your dose of methylfolate, as long as you do okay with a higher dose, sometimes the dose would be more like 5 mg per day of 5MTHF in early pregnancy.

  6. Hi Dr Doni
    I would love an article about preventing miscarriage!! Last year I suffered three miscarriages – two missed mc which baby stooped growing at 6 weeks 5 days, and 6 wks 4 days which I had d&cs for at 10 weeks and 12 weeks (both found out at 8 week date scans). Third miscarriage was much earlier and I had a natural mc. I had done all the tests from the fertility doctor and he mentioned in little detail that I had mthfr c677t homozygous & told me that this just meant my body had an enzyme that depletes folic acid and I was to increase my dose on top of my prenatal vitamins to 5mg a day.

    I have been reading many artcles including ben lynch and have decided that I need to find out what steps I need to take to ensure my body gets what it needs to have a healthy pregnancy.

    What supplements would you recommend for preconception phase? I had a complete chromosome test and amh etc so wondering what I should get checked – b12 levels and h/cysteine? Would love your thoughts. I am also 42 this year and we conceived all three quite easily with tracking ovulation opks!!

    • Thank you for your article suggestion and for sharing your story. Okay, I’ll get to work on writing about miscarriage prevention. Best is if we can meet for a consultation – if you can do that, start at This way I can give you my thorough and individualized recommendations. In the meantime, here is a link to the “pregnancy protocol” that I developed at I’d suggest that you yes, have homocysteine checked to help determine appropriate 5MTHF dose for you. Then need to evaluate diet, food allergies, adrenal health, digestive health, and I’d look at a full genetic panel to see CBS, MTR, MTRR, COMT, etc. I’d also want to evaluate your progesterone levels – that is what I’ve found prevents the most miscarriages, progesterone. Let’s talk more if you can.

  7. Hello Dr Doni,
    I have a had two miscarriages in the last 10 months – the first one was at 17 weeks and my 2nd at 16 weeks. I went to my OBGYN and he noticed that I was dilated; I was placed on bedrest and sent to a specialist. By the time I went with the specialist he was able to see my bag through my cervix I then got the cerclage done at 15 weeks and due to leaking and my water breaking lost the baby at 17 weeks. Both my specialist and OBGYN were sure that if the next time I get preganant I get the cerclage down prior to dilating I would go on to carry my baby full term. This was in July, 2015. In Oct 2015 I found out I was pregnant again; I went to my OBGYN at 5 weeks pregnant and was sent to my specialist. My specialist ran blood work and found that I have MTHFR. He then prescribed Lovenix 30mg every day and I had the cerclage done at 10 weeks. Both my Dr felt confident that I would carry my baby full term; however on Jan 8, 2016 I started to get contraction and started to bleed as I got to the hospital once my specialist checked me out he said my placenta has abrupted and I was going to deliver the cercalge was removed and my baby was born at 16 weeks. I just saw my specialist again and was told that the reason for my miscarriages are due to my blood disorder and that the next time I get pregnant I would get the cerclage and up my dose of the Levinox from 30 mg to 60mg and that I should keep trying. I asked my specialist about progesterone and he said that is only used for miscarriages after 20 weeks and states that the best thing for me to do is to keep trying. What are your thoughts on the treatment he is offering? I want to try again but I want to make sure that I get all the treatment available for a successful pregnancy?

    Thank you for your time,

    • I’m sorry for your pregnancy losses. I have definitely found it helpful to use progesterone in early pregnancy – and I know that is not the standard of care, unfortunately. I’d be happy to help you with my protocol – if you can set up a consultation time at I would also want to check your full genetic panel and your homocysteine levels so that we can address the MTHFR mutation. It seems to me there is more going on in your case than just needing blood thinners.

  8. Dr. Doni,
    I just heard about the MTHFR mutation issues after having experienced 3 miscarriages. The miscarriages were late in the first trimester – around week 10. We were able to do genetic testing after I had a D&C for the 3rd miscarriage, and the genetics on the baby came back normal. Would that test have included testing for MTHFR? Should I still look into getting tested myself?

    • No, the baby’s genetic test would NOT include MTHFR. You need to do a separate genetic panel – can be done with blood work (not always covered by insurance) or through 23andme. Then I recommend that you work with a naturopathic doctor to help you with the next pregnancy – don’t want that to happen to you again. I’m happy to help if you can do a consultation – find that information at

  9. Dr. Doni,
    My husband and I have recently been diagnosed as MTHFR – I am a carrier for 1298C hetero and he is positive for both 677 hetero and 1298 hetero. This will be my first pregnancy. He has three healthy children from a previous marriage (they all have allergies), after which he had a vasectomy. He went through ICSI and then we did IVF. I had one embryo implanted and eight frozen. After getting a positive and finding out we were pregnant, we then learned it wasn’t meant to be, ending in miscarriage. This led us to decide on genetic testing for the embryos and a blood test for each of us to help with that. That gave us our diagnosis. So here’s where I am: My RE has ordered Metanx for me and I have stopped taking my prenatal with folic acid. I’ll take my Metanx with DHA and CoQ10, as well as a baby aspirin. The nurse told me all would be fine if I took these and then we implanted an embryo. But if the embryo already has the genetic mutation passed on, even the medications I am taking would not help, correct? Will we have to do an entire new round having been on the medications through IVF to have a healthy baby?
    Thank you for any light you can give!!!

  10. Hi Dr. Doni,
    We recently had our 4th consecutive miscarriage. We have lost all pregnancies between 8-10 weeks after a heartbeat has been detected. After our 2nd loss I found out I have one copy of heterozygous MTHFR (C677T). I have been taking Thorne Prenatal, a baby aspirin, and nordic naturals, and lovenox (when pregnant for past 2 pregnancies) for the last year. My RE wouldn’t even test me for MTHFR and just said to take a baby aspirin. I had it tested on my own. During my 3rd pregnancy my family Physician tested my homocysteine at my request and it came back within normal range.If its within normal range should I still increase with Thorne MTHF 5mg? Thank you!

    • Oh dear Keely, I’m sorry to hear about your pregnancy losses. I’m happy to help, it’s just that I would need to meet with you for a consultation to be able to be thorough. I find that patients are most successful when they can meet with me consistently prior to and during pregnancy. Keep in mind that the “normal range” of homocysteine is quite broad – I use a much narrower range as optimal. And we need to take into account a few other parameters as well. I hope to be able to help you more soon – please visit the make an appointment page on my website to schedule a time for us to meet.

  11. Hi Dr Doni,
    I also was told I have a double MTHFR gene mutation. I have had 2 ‘miscarriages and my first being at 17 weeks with downs and fetal hydrops. I went on after that to have a very sick puking pregnancy after and had my son at 34 weeks and everything with him is great. I recently lossed another baby and I am currently pregnant again and I just want to make sure this sounds correct because I have read a ton of articles and they all sound different. My dr has me taking a regular prenatal and baby aspirin and b6?? I’m worried and just want to make sure but I think I should stop the prenatal and take methylfolate instead? I also will be getting progesterone shots since I went into early labor with my son.

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