Weeks 10 to 11 -- Part 1

Genetic Counseling


Everything about CVS was entirely unlike anything I expected.

First, the genetic counseling, which I had asked to forego, figuring A) I knew all the terrible things that could befall a fetus implanted in a woman more than 35 years old, and B) If, God forbid, my fetus had any of these chromosomal abnormalities, we would surely elect to terminate the pregnancy. So why discuss the "what ifs" and "what thens?" Let’s take the test, get the results, and then decide how to proceed. But the hospital required a discussion session before it would even book an appointment for the CVS procedure, so reluctantly but politely, Jack and I showed up for our 90-minute meeting.

To our surprise and delight, the genetic counseling was wonderful. Julie, our counselor, offered the perfect combination of scientific knowledge, layperson vocabulary, and affable bedside manner. We reviewed Jack’s and my genealogical tree, which, fortunately, was free from any significant chromosomal illnesses. We learned that even though the statistics for genetic abnormalities doubles in women 35-plus, there was still a 99% chance that the baby would be born genetically normal. Suddenly the odds were way in our favor and we felt like fully educated, well cared for, expecting parents.

We also learned about a new option for even more detailed genetic screening: microdeletion. This process analyzes a portion of the sample for less common but equally devastating disorders. It takes a few weeks, but it provides a wealth of information that ordinary screening does not. And it costs $650; no insurance will cover it since it’s purely elective. Seems like a good choice, I said to Jack, since caring for a severely impaired child costs far more than $650. Bizarre, I thought as we made our decision to send my cells to the lab in Texas, that we put a price tag on this knowledge, that we do a quick, internal cost-benefit analysis on this investment to make sure it’s worthwhile. If the results are positive, was the money better spent? If they’re negative, was it a waste? If it were $5,000, would we still do it? If it cost $5, wouldn’t everybody? Shouldn’t it be affordable for everyone since lower-income parents are those least likely to be able to provide for a disabled child? The inequity struck me as wildly unfair—the rich get richer information, the less fortunate get none. I’m lucky that I could afford to spend $650 to learn whether my child is healthy.
There are two ways that CVS can be performed--vaginally, and trans-abdominally, depending on the location of the placenta--and the doctor chooses the method when he reviews the sonogram at the time. I asked Julie which procedure was more uncomfortable, and was told that they felt virtually the same. Vaginal CVS felt like a Pap smear, trans-abdominal felt like menstrual cramps.

So I was all set, confident that I had made the right decision to do CVS instead of amnio, confident that the risks were virtually equivalent to those associated with amniocentesis, confident that I was in the hands of one of the leading practitioners in the country, confident that the procedure would be mildly uncomfortable, but totally manageable.

I was not prepared to endure the most painful, traumatic, and emotionally upsetting medical procedure of my life.




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