Thanks again to all the people who left congratulations and well-wishes on last week’s ultrasound picture post. The positive thoughts are much appreciated, especially since it’s been a bit of a roller-coaster here in Chateau Steelypips.
As you can guess from the fact that the ultrasound looks fairly baby-ish, we’ve known about this for quite a while– that’s an 18-week ultrasound, and we told our parents about the pregnancy at Christmas. Things took a somewhat unpleasant turn in early January, though– all appears to be well now, but there were a couple of really unpleasant weeks in there.
In early January, Kate had her first appointment with her OB-GYN, and came home with a bag full of free promo fliers, and pregnancy magazines (which we had fun mocking) as well as an appointment for an ultrasound, just to nail down the date of conception. A week later, she went off to her appointment, and I went in to work, because I expected that there wouldn’t be anything to see. She called me at work, all happy and excited, having seen the heart beating on the ultrasound monitor. This was the first point where the whole thing started to seem real, and we were both ecstatic.
An hour or so later, the doctor called back to say there was a problem.
One of the things they do with a first-trimester ultrasound is to measure the thickness of an area at the back of the baby’s head, called the “nuchal translucency.” This is an important early screening test for a wide variety of genetic disorders, including Down syndrome, trisomy 18, and trisomy 13. The nuchal translucency for our baby was significantly thicker than normal, indicating a greatly increased risk for those conditions.
This was, as you might imagine, pretty devastating news. There are some blood tests for further screening, so we went back to the office for those (I went along this time, as moral support), and were referred to a local specialist. The next week, until the first meeting with the “genetic counselor” was pretty unpleasant– both of us were on edge the whole time, and I don’t think I got a full night’s sleep that entire week.
The blood tests more or less ruled out trisomy 18, but the overall screening indicated a 1 in 10 chance of Down syndrome. We scheduled an amniocentesis to find out for sure, and went back a week later for the procedure (I was there for the ultrasound bits, but I have a deep and irrational hatred of needles, so I left the room for that bit). They said it would probably be a few days before the “FISH test” (“fluorescence in situ hybridization”)for chromosomal disorders came back, and up to two weeks for the full screen. We settled in for another uncomfortable wait, but it was less than 24 hours before they called back with the news that the FISH test was all clear. No chromosomal abnormalities were found. The full genetic screen confirmed it a week or so later.
There’s still an increased risk of some heart defects, which was one of the things they checked at last week’s ultrasound, but the doctor there said he didn’t see anything obviously wrong in looking at the heart on the ultrasound (which, by the way, is the coolest thing ever…). We have a fetal echocardiogram scheduled in a few weeks, to find out for sure, but things seem to be OK, so I was given clearance to post that picture.
A lot of people I’ve told this story to have similar anecdotes involving their own kids, or the children of friends, and almost all of them end the same way: “The kid is fine, and I don’t know why they put us through that.”
The thing is, I’m just enough of a scientist that I do know why they put us through that. I’m not happy about those sleepless nights, mind, but I absolutely understand both why they scared us with those results, and why nearly all of those stories end happily.
The figure they gave us for the chance of Down syndrome was one in ten. That’s roughly an eighty-fold increase in the risk for a woman of Kate’s age, which is pretty dramatic. And while Down syndrome isn’t the end of the world– look at Michael Berube for example, who writes beautifully about raising a child with Down syndrome, and still finds time to work for the downfall of Western Civilization– it’s a major, major problem, and something most people would want advance warning of. If the chance of a condition as serious as that is eighty times higher than normal, a doctor has an obligation to tell people.
And yet, nine out of every ten people who get that early screen result will find nothing wrong in the end. The vast majority of the scared prospective parents out there will end up relieved, and wondering why they went through all those sleepless nights. But it’s absolutely the right thing for them to do– we’ve passed laws based on smaller overall risks than one chance in ten of a serious problem.
(Please note that I do not in any way mean to slight that one set of parents who do end up with a child having Down syndrome. I have nothing but admiration for the love and courage of those parents, let alone the people you’ll find via Google who have babies with the other trisomy disorders. I’d like to think I could be that strong a person, if I had to, but I am cravenly relieved that I don’t have to put that to the test.)
So, anyway, all is apparently well at the moment, and we’ve moved back to being more excited than terrified. For now. There are still more tests to be done, and other scary possibilities down the road– nothing gives you an appreciation for the many and myriad ways in which the human body can go wrong than prospective parenthood, and the long list of problems and issues that can crop up. But we’ve gotten through what I fervently hope will be the scariest moment of this whole process, and we’re looking forward to the arrival of FutureBaby.