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Swimming In The Shallow End Of The Gene Pool?

by The Next Family December 01, 2010

By: Heather Somaini

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Most people look in the mirror and then look at their spouse and pretty much know what their kids are going to look like, act like, and maybe even what they’ll be when they grow up. I’m a perfect cross between my parents. I have my Dad’s walk, his hair, my height is from him, but I have my mother’s voice, her skin tone and best of all, her eyes. Of course, there has been a lot of discussion over the years as to who is responsible for my nose…everyone says my grandmother is to blame but she has always vehemently denied it.

There is something to be said for doing things the easy, “normal” way. Not us. We went off the word of a stranger and the statistics the donor claimed were his. How did we know he didn’t have a creepy Uncle Carl or a genetic disease that he may not even know about or maybe just webbed toes no one noticed?

At some point, the doctors bring up genetic testing. We wanted and fully expected to do Preimplantation Genetic Diagnosis (PGD) but when we brought it up with Dr. S, he felt it was unnecessary so we didn’t do it. I’m not 100% sure why, but I suppose it’s because it carries a substantial risk and he thought our embryos looked very good.

Once you’re pregnant though, there are a whole ton of options they let you know about. Some are invasive:
Amniocentesis which most people know requires amniotic fluid to be removed with a large needle between 15-21 weeks of the pregnancy and has a .5% risk of complications.

Chorionic Villi Sampling (CVS) which extracts placenta cells and carries a 1% risk of complications administered between 10-13 weeks of gestation.

Other tests are non-invasive and are essentially really good indicators of what may be right or wrong and carry no risk:

Nuchal Fold Scan which measures the amount of fluid behind the neck of the fetus during an ultrasound. A large amount of fluid can be an indication of Down’s Syndrome or Congenital Heart Defect.

Triple Screen is a blood test done on the mother between 16-18 weeks of gestation and identifies levels of protein and hormone that are consistent with carrying a baby with Down’s Syndrome and/or Trisomy 18.

We did all the non-invasive tests. I think we did most or all of the tests with our next new doctor, Dr. P – our perinatologist. Who knew we would have an alphabet of doctors going through this process? We were referred to Dr. P almost immediately. Why? Because he is an uber-specialist in high-risk pregnancies. Dr. C said he was the “best in the west.” And we were certainly considered high risk. I was 37, Tere was 44, and we were having twins – very high risk. I look back now and realize that we were only about 6 weeks away from starting to even understand how risky this pregnancy was. But I get ahead of myself.

The tests all came back within a normal range which was good, because although we had always agreed we couldn’t bring a severely disabled child into the world, we suddenly knew a much more important reality –we couldn’t end any heartbeat that we had been so desperately waiting to hear. My boss had said once that although he absolutely believed in a woman’s right to choose, he himself could never end a life after hearing a heartbeat. I didn’t understand at the time but now I did. There was no point in taking any risk with additional testing – these babies were ours and we were taking them home even if they each had a horn coming out of their heads. We were taking them home as is!

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