Test Results

Thursday, April 29, 2010
I got a message last night from my doctor that my test results were in and I needed to call him in the morning. Bottom line - most everything came back normal with exception to one test, a gene mutation called MTHFR.

Basically, in very simple terms, this gene tells the body to process amino acids, specifically folic acid. If there is a mutation, then either the gene isn't doing its job or it's not doing it very well, which leads to high levels of a certain type of amino acid. When this occurs, it could lead to a blood clotting disorder and give you a higher risk for cardiovascular disease, heart disease, stroke, etc.

This gene has two parts. We'll call them A & B. Both A and B also have two parts.

A - one and two
B - one and two

For me, A1 is normal and A2 is abnormal. B1 is normal and B2 is abnormal. This could mean my levels may be normal or they may be high, depending on how well the normal ones are working. If they are high (which isn't good), then there may or may not be things I can do in another pregnancy.

This mutation was only recently discovered and there is not enough research out there yet for a consensus on what to do. After reading about it in terms of pregnancy, there really is no good news in my opinion. There are things some doctors would have me do, but other doctors may not see fit in doing anything. Dr. Y even said the same thing. He said perinatologists are split on the issue.

I go back in three weeks for blood work. We'll see how everything looks overall. There will definitely be another appointment at some point with the perinatologists for their take on my results and the current research.

I'm pretty sure I'm more confused now than ever. There's so much to take in and digest. Either way, I probably should start taking vitamins again, don't you think?


  1. Yes I would start taking vitamins again. I started on my prenatals again, and I have Factor V which is a clotting disorder and will be on lovenox next time around...I know that its not proven to help 100% but I will take whatever I can get!

  2. Well you may not fully understand the results, but you at least are getting some answers. I hope they are better able to explain things and give you a game plane as to where you can go from here. I would take vitamins for sure.


  3. Hugs. Another women who's blog I read has recently been diagnosed with this as well - you might find something in her posts that helps:

    Maddie x

  4. Hi, answers are good. Even if they're not really clear, it just helps the docs know what they're treating. IMHO. And total yes to the vitamins and my other personal favourite - baby aspirin. @LauraAngel - I have a rainbow and everyone's 100% certain it's thanks to the lovenox. I took it from 5- 34 weeks. Can't rate the stuff highly enough.