You are here

Genetic Testing Part 1

My husband and I went to the hospital today for the first part of our genetic testing. First we met with the genetic counselor, who was very nice and explained all the tests and what their potential results might mean. She talked about the fact that any pregnancy has a 3- to 5-percent chance of a birth defect, and then she talked about my risk based on the fact that I'm 32. Finally, she talked about how we would test for our individual risk based on our family's medical histories and on info we'd learn from the tests we were taking.

What we tested for today:

*The likelihood of chromosomal issues — specifically Down syndrome and trisomy 18 (trisomy 18 is a condition in which the baby doesn't usually survive). They figure this risk out based in part on blood work and in part on a sonogram in which they measure the fetus's neck area.

* Whether or not I'm a carrier of any of the diseases that tend to affect people of Eastern European Jewish descent, like Tay-Sachs — since both my husband and I are Jewish.

I'd tried to get tested for the Jewish Panel before conceiving (it's just a simple blood test) but my insurance wouldn't cover it if I wasn't pregnant and it would've cost me more than $2,000. Why, the insurance companies don't allow for this testing BEFORE you're pregnant is beyond me. I mean, now I'm already basically into my second trimester and I still don't know if I'm a carrier for one of these horrible fatal diseases. If, God forbid, I'm a carrier of one of these diseases (about 1 in 25 Ashkenazi Jews is a carrier), I'll then have to wait more time for them to test my husband and see if he's a carrier for the same disease. And if, God forbid, he's a carrier too, then our baby would have a 25 percent chance of having the disease. By the time we'd find any of this out, I'd be well into my second trimester, and the idea of waiting so far into pregnancy before finding out such crucial and life-determining information is insane to me. But there wasn't much I could do about getting the results sooner, so now I'm just praying I'm not a carrier for anything so we don't have to go down that road.

The good part of the genetic testing, which I don't mean to downplay at all, is that we had the best sonogram yet. It really looked like a baby! The sonogram at the hospital was much more high-tech than the one in my doctor's office, and for the first time we actually heard the heartbeat (during the last two sonograms we just saw a flickering light that signified the heartbeat). I even saw the baby move! It was pretty incredible and exciting. And the preliminary results of that sonogram showed that the baby's neck thickness was in the normal range, which was reassuring news.

So, now, we wait. And when we get these results...assuming they're okay (not to jinx anything), we'll officially go public with our pregnancy news.