Thoughts on prenatal testing

Saturday, September 6, 2008 Comments

I've been thinking about this all week, ever since Palin was announced as McCain's running mate. The media has been making a really big deal about the fact that "she knew ahead of time that her baby was going to have Down syndrome, and yet she decided to have the baby anyway." They say this with a sense of awe and/or surprise.

It seemed odd to me, until I learned that 90% of babies diagnosed with Down syndrome during pregnancy are aborted. 90%. I did a little research, and found that there are approximately 5,000 babies born with Down syndrome each year. So, if we assume that roughly 75% of those were diagnosed during pregnancy (just for the sake of estimating the impact), that's around 3,750 babies born with DS each year who were diagnosed during pregnancy. If that represents the 10% that are not aborted, that means there are another ~33,750 babies with Down syndrome that are NOT born each year. I don't want to start a debate on abortion, but that just breaks my heart.

This does help to make some sense of what dh and I experienced when I was pregnant with our youngest son. I had the routine blood tests done around 15-16 weeks and didn't think much of it, until the dr's office called me about a week later to tell me my test results came back showing increased risk of Down syndrome, significantly more likely than it should have been for my age anyway (I was 30 at the time). They wanted me to come in the next morning.

When I went in for my appt, they were all ready to do an amniocentesis. Seriously, the nurse came in with all the equipment ready to go, and they didn't actually ask if I wanted an amnio, just assumed that I would. Whoa, stop the bus! After all, wasn't the amnio known to have some risks too? They looked at me like I was nuts, but the nurse escorted me into the doctor's office for a more thorough consultation.

Having just been through a miscarriage (not related to any testing, just happened spontaneously, unfortunately) a few months prior, even a remote risk of miscarriage was too much for me to think about (and let's be honest, the big needle was a deterrent too). I'm not at all judging anyone who chooses to have an amnio, there are plenty of reasons to do so and the risk is pretty low. Just explaining my mindset at the time.

When I told the doctor I wasn’t interested in having an amnio, he was skeptical. He kept reminding me it was the only way to know for sure, and he told me a few times that if we wanted to consider ending the pregnancy if the results were positive, then we really need to have the amnio, and right now. We had no intention of ending the pregnancy regardless, so I declined and asked what other options we had. He reiterated that the amnio was the only way to know for sure, but said they could do an ultrasound to look for "markers" of Down syndrome. I agreed to that, and the u/s showed nothing unusual. It wasn't definitive, but it was reassuring.

Here’s his sonogram picture from that day, it looks like he’s waving :). That was the day we found out he was a boy!

I admit I was a little disturbed by how they just seemed to assume that if our baby was found to have Down syndrome, that we would most likely want to have an abortion. I had no idea how common it is to do just that. After all, I had fallen in love with our baby the moment I learned of his existence, and nothing was going to change that!

Now, I probably should have used the months between that point in time and delivery to do some research on DS and try to prepare just in case, but I didn’t. I completely put it out of my mind. This news came scarcely a month after our twins had been diagnosed with autism, so at the time, the possibility that our third child might also have special needs was a bit overwhelming. We were still trying to research autism and navigate the world of therapies, waiting lists, etc.

I remember feeling a little swell of panic as we drove to the hospital on the day our son was born. Up to that point, I had purposely not given the possibility much thought, but now we were going to find out for sure whether our son had DS. I started to think maybe I should have done some research on DS just in case, but figured we’d just have to immerse ourselves in a “crash course” if needed. As it turned out, he does not have Down syndrome. He would eventually be diagnosed with autism 2 years later.

Which brings me to my last point. Currently research is being done to enable diagnosis of autism earlier and earlier in a child’s life. I am all for that – if we could diagnose in infancy it would save both parents and children a lot of heartache, and would enable parents to seek out help for their children sooner.

But what happens if a test is developed that will diagnose autism during pregnancy? On the one hand, it would give parents time to research and prepare. But on the other hand, will we see 90% of autistic children aborted? I don’t even want to think about a world like that, and yet it has already happened in the case of Down syndrome and perhaps with other conditions that can be diagnosed prenatally. I don’t want to debate the broader “cure” issue, which I know is a hot-button topic, but I have to ask, is this what some people have in mind when they think of a cure for autism? Will there come a day when people say with amazement in their voices, “she knew her baby would have autism, and yet she decided to have the baby anyway?”

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