MTHFR (Methylenetetrahydrofolate reductase) User Group
looking for insight....
About This Group:

This Group was created for anyone wishing to learn, chat or share information relating to MTHFR. Many woman have suffered Miscarriage(s) and have no idea why. For some of us, a genetic mutation called MTHFR is the reason. MTHFR (or 5,10-methylenetetrahydrofolate reductase NADPH) is a genetic mutation that has 24 known variants that affects the ability to absorb Folic Acid and can cause more severe problems in health and also in pregnancy. There is much debate and dispute within the medical community regarding MTHFR and it's relationship to pregnancy loss or Recurrent Pregnancy Loss (RPL). In all the confusion, there are many ideas and treatments along with schools of thought on how to treat or deal with MTHFR.

Founded by Dragon1973 on October 23, 2010
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looking for insight....

I got a phone call from my new ob yesterday and she told me I was positive for 2 mthfr gene mutations. Compound heterozygous she said.  All other coag studies were negative. My DD will be one in a week and I am just now getting this diagnosis.

Background:
The winter of 2008 DH and I decided we were ready to ttc#1. We were very fortunate and got pregnant the first month we were trying. Things were normal until 30w when I didn't feel as much movement from DD. I was concerned because my fundal height was 29cmm at 28w and was only 30cm at 34w. My OB blew me off saying you can't always judge baby's size based on fundal height and I had nothing to worry about. My concerns about decreased fetal movement were met with comments like: you are on your feet all day and that soothes baby, you are a 1st time mom so you aren't as "in tune" with things, you have an anterior placenta, you are overweight. All reasons that made sense to me.
At 34w I worked all day and felt no movement in 10hrs. I am an RN in a hospital and went to our l&d unit to get checked out. Less than an hour later I was having an emergency c section with general anesthesia. DD was 3lbs, her APGARs were 1,3, and 8, her blood sugar was 12. There were multiple blood clots througout the umbilical cord and placenta, areas of placental infarct, and the partial placental abrution. Her pedi said if I had been 20 mins later, DD probably wouldn't be here or she would be completely different neurologically. She had a fairly uneventful 25 day hospital stay as a feeder/grower. My OB said that since I didn't have a history of m/c or stillbirths what happened with DD was just a fluke and refused to do any testing.
Now a year later, DH and I are ready to ttc#2. First thing I did was find a new OB! My new OB ran all sorts of tests and is now referring me to a high risk OB.  My new OB is recommending biweekly NSTs starting at 32w (maybe earlier) and says since I have a history of thrombus and an IUGR baby anticoagulation is probably indicated.  She is sending me to a maternal fetal specialists to make sure s/he aggress with her recommendations.  I am excited to hear your insights as I begin this journey. I know treatment during pregnancy is fairly controversial as research has only taken off in the last decade or so...

Thanks for reading my long post!


PS- Sophie is a normal, happy, and healthy child with seemingly no repercussions from her prematurity or my MTHR mutation.  She is our miracle!
2 Comments
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Oh and my homocysteine levels are normal.
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Like my story but not I have homo c677t and homo a1298t my doc has me on folic acid and that's it my last bub was delivered with a clotted placenta and I had a pe in the pregnancy my blood preside began to rise n everything went wrong. Now I'm preg again I'm scared as he'll and doc just says it's not serious don't stress yourself. I live in the country with no doctors for a few hundred km do u think my doc is doing enough? We could not bare another angel in heaven
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