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MTHFR / C677T homozygous mutation / current thinking?

post #1 of 6
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Edited by aprilshower - 5/22/12 at 12:24pm
post #2 of 6

I was never tested and I had a hematologist because I had been diagnosed with ITP. I got pregnant in 2006 and carried by son to 38 weeks and had a placental abrubtion so my son was stillborn. I was totally devastated by this after a few months I wanted to try again but this time I went to my Hematologist that my OB said they would work with but never did because he had no idea I had even been pregnant. He ran some more tests and found that I have the C677T hetrozygous MTHFR gene. Prior to me getting pregnant again he put me on Folgard one a day while not pregnant 2 a day if I got pregnant.


I got pregnant in November 2006 again and then he started me on Lovenox injections but after about 30 days I got a rash from it and had to discontinue use. Of course when you are high risk they pay way more attention to you so I had sonograms and prenatal monitoring and in August of 2007 I was induced at 38 weeks and have a healthy beautiful son. I was 34 then and I am now 37 and want to try again but I am very worried with already being high risk from this gene and beaing age 37 now about Autism and Downs as well as other defects that can be caused by the MTHFR. I really want to have another child not just for me but for my sone because he really wants a brother or sister.


Does anyone know if you are already on the folgard and asprin and you get pregnant if it decreases your chances of your child having one of those defects or is it still rolling the dice? Has nayone had a healthy pregnancy at 37 or older with the MTHFR mutation once receiving the treatment I listed above?





post #3 of 6


I just found out today that I have the homozygous mutation.  I also have another blood clotting disorder Factor V Leiden thrombophilia. I did not know about either condition before my first child was born and three days after delivery I developed a DVT.  For my second child I did not get Lovenox until the day of delivery for a day and a half.  I did take baby aspirin during the pregnancy.  I then had the testing and found out about the Factor V.  Finally, my third pregnancy turned out to be twins which increases your chances of a blood clot even more so I took asprin until around 4 months into the twin pregnancy and then had to switch to Lovenox injections until their birth.  I have all healthy children and no miscarriges.  I would talk to your doctor about the Lovenox since I believe it allowed me to have an uneventful pregnancy and prevented a clot with my second delivery.  Good luck! 

post #4 of 6

My mom has this, and I am getting tested for it this week...

post #5 of 6

I'm homozygous for MTHFR and I've had 3 successful full term pregnancies and one unrelated mc (blighted ovum). I learned of the condition with my first pregnancy due to a family history of late losses. I saw a perinatologist when I got pregnant with baby 3 to help figure out if I was *truly* high risk.  My homocysteine levels were normal, even without additional folic acid supplements.  Elevated homocysteine levels are the concern, not specifically the MTHFR.  Depending on what your levels are, you might need an additional folic acid supplement, baby aspirin, or even lovenox or herparin.  With my first baby I had my levels checked every month, 2nd baby once a trimester, and 3rd baby I only had them checked once, right before baby arrived.  MTHFR by itself is not as concerning to doctors as it was a few years ago but MTHFR combined with other things like factor V raise red flags.  


I'm so glad I was persistent in researching what my options were.  When pregnant with my first, I was terrified of a loss, especially late term.  With my 3rd, after my careful research, I was able to have a wonderful homebirth where I was treated like the low risk mama I am.  (PM me if you want more information about MTHFR and homebirth...I was so frustrated I couldn't find anyone who had any words of wisdom on the topic)

post #6 of 6

Thanks so much for posting this info. I just got the call today (at 30 weeks with my first pregnancy) that I do have two copies of MTHFR. I am going in a week from Monday to consult with a perinatalogist. This info is really helpful. Hopefully everything is fine.

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