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Thread: MTHFR Gene Mutations

  1. #1

    Default MTHFR Gene Mutations

    I have had 2 miscarriages in the last year, and my doctor did a blood work up recently. Everything was negative/normal, except for 2 mutations to the MTHFR gene, which can affect folic acid synthesis. My doctor said that with these defects, the body doesn't break down and process folic acid properly into a usable form (among many other potential cardiovascular effects not related to pregnancy), therefore the levels aren't high enough, leading to neural tube and other midline defects. I have a lot of questions for my doctor, but I'm just wondering if anyone else has this or any experience with it? I have a perfectly healthy 4 year old, but had a miscarriage last summer, then a blighted ovum this spring, and a possible chemical pregnancy prior to those. I am on a prenatal that has Quatrefolic acid in it now, but does anyone have any information on this? Thank you!

    8/2012 4/2013

  2. #2


    I'm so sorry you've had to suffer so many losses.

    Not really any information. But does it just affect folic acid or does it mess with folate, as well? It might be a chore, but if it's just the folic acid you could just work on eating enough folate to compensate?

    I have had multiple miscarriages and just recently discovered that they may have been caused by severe vitamin deficiencies (namely folic acid). My doctor put me on 4 mg of folic acid/day (plus 1mg that's in my PNV) as well as an injection once a week for the first month. But if your body isn't synthesizing it for absorption, I don't know what an alternate plan would be.

  3. #3


    I have MTHFR factor and after 3+ years and 3 miscarriages, my Dr finally got my meds right. I take a baby aspirin, a folic acid prescription supplement and a prenatal with dha along with metformin. With that regimen I have gone on to have 2 healthy boys in 2009 and 2012. Its all in working with your Dr and trial and error in meds.

  4. #4
    Join Date
    May 2007
    Outside Seattle, WA


    I have this mutation, which we discovered after I lost a baby due to Spina Bifida. I have taken mega-doses of folic acid since then - about 5 milligrams a day. I did not have a NT defect in my last pregnancy (although there was a loss for reasons undetermined at this time). My doctor wanted me Taking folic acid supplements for at least six months prior to getting pregnant and staing on it throughout the pregnancy. This type of gene mutation is fairly easy to remedy with the folic acid, in my experience. Good luck!

  5. #5


    Thanks for all of the input. I'm on a different PNV with quatrefolic form of folic acid. My Dr said she can't be sure this is causing my miscarriages since I have a healthy daughter, but it's easy to manage so why not do so. I guess we'll see how it goes!

    8/2012 4/2013

  6. #6


    I know women with this who have had healthy pregnancies usually with a regimen of folic acid and baby aspirin.
    Mary Jane, doula and mom of Vada, Brynna, Tea, Moira, Kyan, Ambria, Aslan, and Anakin.
    “Be who you are and say what you feel because those who mind don't matter and those who matter don't mind.” ~ Dr. Seuss

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