September 30, 2010

Results and counseling

So I kind of exaggerated when I said that we waited for two weeks for our results. A few days after the ultrasound and amniocentesis, we received preliminary results from a FISH test. The FISH test only looks at chromosomes 13, 18, 21, X, and Y since most abnormalities are related to these chromosomes. For example, an extra chromosome 21 indicates Down Syndrome. Feel free to ask me anything about chromosomes, prenatal testing, and heart defects because I earned my “Google M.D.” in the days following our amniocentesis!

I got a call from a nurse at the ultrasound office letting us know that our FISH results were normal. There are no numerical anomalies in these specific chromosomes. Which should be reassuring, right? Of course not for me because now I'm thinking "What about all of the other chromosomes?" So we could do nothing but wait for the complete results.

About a week and a half later, a nurse called to let us know that the complete results were in and that they verified the FISH test. But then when I asked if they looked at all of the chromosomes, she just repeated that there were no numerical anomalies with 13, 18, 21, X, and Y. But she also said that Baby was “chromosomally normal.” So that's good news, right? I was a little confused, but glad to know that we'd soon be meeting with a genetic counselor to go over the results.

If you want to know the millions of things that can go wrong with your baby, see a genetic counselor. It's so much fun! Actually, ours is very considerate, not at all alarmist, but for all of his tact, he couldn't make this any less scary. He confirmed that Baby's chromosomes are numerically normal. However, they are continuing with a microarray analysis that looks for additions, deletions, and translocations within individual genes.

The news that our amnio results were normal should've been a relief, but it just felt like one item to be crossed off the list. Normal chromosomes or not, Baby still had a heart issue that we didn't fully know about. The counselor tried to give us an idea of the challenges Baby could face depending on the severity of the defect. We talked about all kinds of heart issues, including the very severe Hypoplastic Left Heart Syndrome for which there is no cure except a heart transplant. These babies typically face three open heart surgeries before the age of three. Could we handle something like that? How would that change our family? How would Charlie be affected? So many questions and not enough information to answer them.

Even though I've just wanted to pull the covers over my head and hibernate until we know all of the facts, there are some good things about this experience that I've tried to keep in mind. One is that we have had a great experience with our doctors. The ultrasound office is just a counter away from my regular OB/GYN, and the genetic counselor actually works in both offices so there is good communication among them. My OB/GYN even called to check on me after the maternal-fetal doctor told her about our ultrasound. We have also been contacted by a “nurse navigator” who supports people who have babies with problems. She coordinates all of our appointments and is a resource when we have questions.

Also, I've read many stories where women and families didn't find out that their babies had serious conditions until after their births. I think about how lucky we are to know that there is a problem and to know that people are working hard to figure out what it is. So while there is so much unknown, we still have a lot to be thankful for.

Next--our follow up ultrasound and fetal echocardiogram. Answers at last!

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