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Monday, March 1, 2010

Sigh of relief

Our genetic counselor called today. She called with some results to the Amniocentesis we took about 3 weeks ago. We did the Amnio for two reasons: 1) because of my "advanced maternal age" which puts my new baby at a higher risk for down syndrome, and 2) we found out I am a carrier for the SMA (Spinal Muscular Atrophy) gene. I've kinda been holding my breath ever since I found out I was a carrier. Its a recessive gene, so Ryan would have to be a carrier as well, but we didn't have him tested before the Amnio because we knew we were going to do the Amnio anyway. Then, it turned out, we needed Ryan's blood for the SMA test, so we had to draw his blood regardless.

The genetic counselor called to say that our new baby does not have Down Syndrome, Trisomy, or any of the other common genetic disorders that an Amniocentesis tests for. And she said that they tested Ryan's blood to see if he is a carrier of SMA, and he is not. The test for carriers is 99% accurate, so they will still call us with the results of the Amnio to confirm the health of the baby. But I am very very relieved. As I received the news I all but started crying on the phone. And I profusely thanked the genetic counselor, as if she had something to do with the results. I imagine she has fantastic calls to make, like this one, and horrible calls to make. That would be a tough job.

So, now, as my mom reminded me, I am more prepared to start blogging about the new baby. I think some belly shots may be forthcoming as well as a potential baby name. Ryan and I have narrowed it down to one boy name that we both like. And I think we may just run with it. But I'll leave that for another post.


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