Sunday, February 11th, 2007...10:42 pm
First trimester combined screen completed
Last week, the first trimester genetic testing was completed. The first trimester combined screen is made up of a blood test and an ultrasound, which together, can be used to estimate the risk of the fetus having Down Syndrome or another triosomy (extra chromosome). For the blood test, I had to prick my finger at home, place the blood onto a form, and mail the sheet off to a lab in New York. For the ultrasound, Rich and I left our small town and drove 2 and 1/2 hours to a University affiliated doc, since our small town doc doesn’t offer this service. The ultrasound measures the thickness of the nuchal fold (the tissue at the back of the baby’s neck) to determine risk of Down Syndrome.
I definitely had mixed feelings about this test. Mostly, my reservations were about the outcome of this test. If our baby had Down’s Syndrome, do I really want to know? How is this information going to change things or affect this pregnancy? I’m pretty sure I’d still want to have the baby, but I’m not sure Rich feels the same way. We’d have some issues to work out if we got bad news, that’s for sure. On the other hand, I always like getting ultrasounds. Since it’s way too early to feel the baby, I like the reassurance of being able to see it moving around and hearing the heartbeat. And since a friend said she learned the gender of her baby at the first trimester screen, I was hoping maybe we’d find out if we needed to focus on picking boy names or girl names. Of course it’s also nice if the results are positive and we learn that the risk of a problem is low.
The appointment starts out with a meeting with the genetic counselor. She reviewed our family histories, asking about any heritable diseases in our family trees. In general, we both have healthy families, except for one thing. My sister had an anecephalic child. Since this is a neural tube defect, our risk of other neural tube defects (like spina bifida) is higher. I’m actually not worried about it, since my sister’s child was born more than 20 years ago, before it was common knowledge that folic acid lowers the risk of neural tube defects. The genetic counselor said that they can’t really assess the risk of neural tube defects with this test, so she encouraged us to have the second trimester screening when it’s time.
After the genetic counseling, it’s on to the ultrasound. It was great to be able to see our little one moving around. I always love seeing that things are on track. Unfortunately, we were told it’s too early to determine gender. At this point, the University doc said, all babies have a bump between their legs. We just have to wait and see if it shrinks or grows! I’m not good at patience, but I guess I can wait a little longer.
When the ultrasound was done, it was back to the genetic counselor, who combined the data from the blood test with data from the ultrasound, and determined the risk of problems. For us, the risk of Down Syndrome is as low as they go! Yay! So that’s one less thing to worry about. As I said, I’m not really worried about neural tube defects, and since the second trimester is basically here, I think I’m starting to relax.
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