Rough Spot

Karin received a call from a genetic counselor (Amy) who had reviewed the last ultrasound. I am quite certain that no pregnant woman wants to receive a call from a genetic counselor following an ultrasound.

Amy had stated to Karin that she had seen an echogenic focus in the left ventricle of the baby's heart. According to Amy, that echogenic focus carries with it a doubled incidence (from 1 in 2800 to 1 in 1400) of a chromosomal abnormality called trisomy 21 (down syndrome). There are numerous issues associated with trisomy 21. The geneticist offered to do an amniocentesis in order to detect the extra 21st chromosome.

Amniocentesis, while routine, is risky. According to Amy, the chances of a miscarriage following amniocentesis is 1 in 200. We scheduled the amnio just to be sure we had a slot, and then we began to consider the rather uncomfortable choices we had before us.

We were faced with the following decision: Do the amniocentesis and risk the 0.5% chance of miscarriage, or live with significant uncertainty. We were both shaken by the news and had a very tough time with the decision. There were tears. We talked to people in the medical field. We turned the scenario over and over in our minds. Karin was at one point determined to do the amnio. A day later she had decided not to do it.

Finally, after much deliberation and angst, we decided to do the test. It had become clear to us that living with that uncertainty, and the potential long-term prospects, was already taking a toll on us.

So, yesterday morning, I rescheduled a number of clients and Karin cleared her schedule. We headed to the hospital. Eventually we were led into the small, dimly-lit room in which the procedure was to take place. The geneticist discussed the entire process with us. She was kind and reassuring. Then a technician came in. He fired up the ultrasound and began establishing just where the baby was and how he was oriented. Finally, the doctor came in. She and the tech discussed where they were going to go in.

A few minutes later, the doctor readied a large syringe with a large needle at the end of it. She directed it at a low point on Karin's massive belly. As soon as the needle punctured Karin's skin, it became visible on the computer monitor. The tech guided the doctor to an area away from the baby and the doctor then pushed through to the amniotic fluid. She then began to pull on the syringe.

I was somewhat struck by just how rudimentary the procedure became at that point. While the ultrasound picture was certainly hi-tech and impressive, the doctor was muscling that syringe like it was 1912.

After about a minute, the doctor had her 25 CC's, the needle was removed from Karin's abdomen, and I was revived and lifted off the floor.

The doctor and tech said that the procedure had gone well and that we would have preliminary results by Friday. The full analysis will be available to us in 2 weeks.

That was yesterday. Karin has not experienced any of the symptoms that would indicate that anything had gone wrong. We also received a call from Amy, who told us that the preliminary findings indicated that so far everything appears to be normal and healthy. We realize that is very preliminary. We also realize that the risk that we took on will be greatest over the next few weeks. Scary stuff.