Genetic Testing: The First Difficult Decision

Before I was pregnant, genetic testing wasn’t intimidating at all. By all means, test me, test the baby, test everything! All would be wonderful. However, once there was an actual person depending on my decision, things became a bit more difficult. There are so many options to choose from. Amniocentesis, which everyone seems to know about, would give a definitive answer, but also carried a risk of miscarriage. The same goes for Chorionic Villus Sampling, or CVS. So, the only realistic option left was the Ultrascreen. This was described to me as an in-depth ultrasound between weeks 11 & 13 and a blood draw combined with my age to calculate the risk of an anomaly. No internal testing, therefore no rate of miscarriage. So, off we went…

My first impression of the ultrasound was that I didn’t really get where the “in-depth” part came from. The tech took measurements of the folds of the neck (which can detect Downs), but there was no difference in resolution on the machine – still just a fuzzy little picture. However, the difference was in the development. At eight weeks, there was a little bean. At 12 weeks, ARMS, FINGERS, LEGS, a NOSE! Seriously, my baby put his/her hand up next to his face and I could actually count five little fingers. She cut flips and it looked like there was hiccupping going on (though the tech quickly shot that down). I thought I had a gorgeous baby at 8 weeks, but now, I was completely taken aback. An ENTIRE person was actually in there – inside of me! But that was it with the ultrasound. A few measurements and off we went. Now, the “blood draw” was simply a finger prick. But I thought the nurse was going to break my finger off as she squeezed out five little drops onto a piece of paper. But, that was it. Test complete and in a week, the results.

I spent the next week a nervous wreck. Luckily, I had an extremely crazy time going on at work and didn’t have much of a chance to dwell on it, but when Friday came around, I was anxious and terrified to hear the results. We would never terminate. We both whole-heartedly believe that isn’t a decision that is ours to make, but we still wanted to know so that we could be prepared and have treatment waiting if needed. The nurse gave the results: at my age (28), the average risk for Down’s was 1/736. After the test, my calculated risk is 1/8396. My calculated risk for one of the trisomies came out to 1/23,000….woo hoo! This doesn’t guarantee that it won’t happen, since someone in those figures is the “1”, but it means things are looking good.