In a post about 2 weeks ago I talked about the blood tests that I had to look for an explanation for Jac's IUGR. The results of the tests are back. All but one of the tests came back with a normal result.
The one test that did not was a genetic test for the gene MTHFR. I was found to be a Compound Heterozygous for this gene. This means that I have two slightly broken copies of the gene, one from my Mom and one from my Dad, but that each copy has a different genetic mutation. One copy has the C677T mutation and one has the A1298C mutation. This is better than having two copies of the C677T mutation.
I have read a lot of literature now on this and I am still confused but here is what I have figured out (If anyone reading this blog disagrees or has more information please send me an email or leave a comment.)
The MTHFR gene codes for an enzyme that is involved in folate metabolism and defects in this gene can lead to high levels of the amino acid homocysteine that the slightly broken enzyme is not as efficient at breaking down. High levels of homocysteine in the blood can cause a variety of long-term problems but the science seems to still be out on what they all are.
When doctors find a patient with that is Compound Heterozygous for MTHFR they look at her homocysteine level. If this is normal (below 6 during pregnancy - mine was 5.5) they do not consider the MTHFR gene to be causing an increased risk for the pregnancy.
Patients that are Compound Homozygous for the MTHFR gene with the C677T mutation are at increased risk for miscarriage and preeclampsia.
There do seem to be some additional risks for neural tube defects in the baby (e.g. spina bifida) with a Compound Heterozygous MTHFR but the extent to which the risks for these defects is ameliorated by the diet of the mother is not clear to me from the research I have been able to find.
The only recommendation for "treatment" for a Compound Heterozygous MTHFR pregnant woman (such as myself) is an additional Folic Acid, B-6, B-12 pill daily to ensure that homocysteine levels in the blood don't rise. This is not a universal recommendation and seems to be a bit controversial. It was not recommended by the perinatologist that ordered my labs but Father's cousin who is a doctor does recommend it. This is a prescription supplement. It can't hurt and it might help is the thinking with this supplement.
My Dad's cousin says our risk of another IUGR with no diagnosis of the cause of the previous IUGR is 50%, the perinatologist says 10%. Those are so different my head is spinning. My Dad's cousin says no way I can go to Italy and the perinatologist says go for it unless we find a problem before then. Augh!
The only other "treatment" recommendation is to take a baby aspirin every day along with my prenatal vitamins.
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WOWOOWOWOW It does sort of take your breath away.
ReplyDeleteAre you having appointments with the OB-GYN?
Did you talk to the physician at the perinatologist?
I wish I had something helpful to offer, but I don't. I'd probably follow up with dad's cousin to find out why his estimate is so different from the perinatologists. I'm hoping it's because the perinatologist has some info specific to your case so the family friend is being overly conservative, of course.
ReplyDeleteI know what it's like to be floating in a sea of information with few hard facts and statistics to hold on to. It's no fun at all.
How soon will they be able to see if the baby seems to be growing properly or not?