Discalimer: If you found my blog by accident and are about to flame me I'm telling you up front that you can kiss my ass.
We had the CVS last night. For anyone who isn't familiar with this test it is one of the tests you can do to look for chromosomal aberrations. They collect a little bit of the placenta by putting a needle through the abdominal wall. It does carry some risk - in the hands of the place we went to the miscarriage rate is 1 in 350. That also means that you have a 99.7% chance that everything will be just fine. Nevertheless, I'm parked on the couch and Tim is being very attentive. So far, so good.
Normally they do a basic karyotype to look for trisomies like Downs Syndrome and sex chromosome aneuploidy that causes things like Klinefelter's Syndrome. We met with a genetic counselor (she happens to be our landlord/neighbors sister and she was awesome) before we did the test. We went over our heritage and complete family history. We were already screened for cystic fibrosis and we're clear. The only real risk factors for us are basic statistics and my age, which was the original reason for the recommendation to do CVS in the first place. When a practitioner who knows way more detail and the extent of the risk says, "I was in your shoes X months ago and I did the following" it lends credibility to the recommendation.
We knew from well before we were pregnant (even before TTC) that we intended to be pretty aggressive about perinatal diagnosis. There is a long freaking list of really debilitating chromosomal abnormalities that scare the crap out of me. Since we are pretty dorky, have some knowledge of disease, and both did some molecular biology for our PhD's we know just enough to ask a lot of annoying questions. By way of long discussion with the genetic counselor we learned that you can actually screen for a lot of these things now. It isn't widely available yet but is due to become the standard of care in the next 3-5 years. In the end we decided to do more extensive screening that includes Fragile X and microarray analysis at Baylor COM. It may take up to a month for results to be available. I'll let you know the outcome and whether I think it was worth it 6 and 12 months from now. Some of my friends may still have yet to face this as a choice (e.g. which tests if any).
The bottom line for us is this: if there is the potential for a serious problem and you can learn about it ahead of time how can it then be ignored? We can't so we tested. Judge me as you will.