Testing for Down's Syndrome

It is early days yet, but there now exist a number of companies that can use a pregnant woman's blood to detect DNA from the fetus. For certain conditions, then, this means no more amniocentesis - which requires sticking a large needle into the actual amniotic fluid (anything that is being stuck into my stomach, by definition, is too big) and carries a slight (read: unacceptable if you're worried about the pregnancy in any way and there is another way to go) risk of miscarriage.

We chose to use a test like this, which would tell us a limited number of things about the baby in my womb. Specifically, it looked for trisomies, triple chromosomes, four of which can lead to viable babies. First, chromosome 21, in triplicate, means Down's Syndrome. Next, there are two less likely, more extreme trisomies, 13, and 18, in which many major organs are severely affected, and many babies don't live past a year or two. Finally, there are sex chromosome trisomies, that may or may not affect fertility, and since they test X's and Y's, you also find out the sex of the baby from this test.

First of all, we didn't really care about the X's and Y's - in any way that would affect our birth preparation. Next, if the baby had Down's Syndrome, we wanted to know now, to help us prepare (and yes, mourn now, the ideal of a baby without), instead of being caught by surprise at the birth. I wanted to be able to smile a full on smile at the birth. Then, trisomies 13 and 18. This one was harder.

The reason we chose the test in the first place is because of my "advanced maternal age" - I'm a grand dame of pregnant ladies now, and that puts me at a higher risk of a baby with any of these trisomies. And to be honest, I just didn't know what I would do if we found out a positive on 13 or 18. A baby whose organs are failing. I would have had to spend a lot of time in books and talking to doctors and on websites to figure out what to do. Yes, I am talking about abortion. But do not make the mistake to think I'm talking about it in any way lightly.

Ever since the first ultrasound with baby A, almost 5 years ago, I've realized that what was growing inside of me was its own being. I had no right to terminate that life. I don't speak for other pregnant women, just myself. I could tell that that was how I felt.

But a baby with so many health problems, severe ones, that could cause death soon after birth? This presents me with another issue.  I don't believe in a god that is directly working in my life, and I also think that nature is dispassionate. Evolution does not save human beings from pain and suffering. There is no "god will do what's best" excuse for an agnostic. And as a parent, even of an embryo, I think it is partly my responsibility (a huge one at that) to think about my own children's suffering. I don't get to pass on the guilt, worry, any of it to a god who knows all. If I'm grown up enough to have a child, I'd damn well better be grown up enough to tackle the most difficult questions that life has to throw at me.

I didn't have to make those tough decisions in the end, because the tests all came back negative.

In the process, I read (albeit on Wikipedia) that: "A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome were terminated." This shocked me. I was just still for some 30 seconds, trying to understand that statistic. (Some biology friends later explained that this was for people who had specifically tested for it, which means people who knew there was a risk but didn't test and kept the baby are not included, but still...).

I also found out the sex of the baby. At around 14 weeks of pregnancy. This was through a phone call - which probably shouldn't be the way the test results are announced, now that I think of it. But my OBGYN (the test was through a hospital and lab, not my doctor) was a bit surprised they told me the sex. Her surprise surprised me, until she explained that there is controversy over whether or not hearing earlier than around 20 weeks might allow for more gender selective abortions. It is earlier, you're not there seeing an image, with a doctor near you to discuss the outcome, etc. Interesting. For us, we were happy either way, so it did not make a difference. But it made me think more about the OBGYN/patient relationship.

So, in the end, we spent a lot of money (these new blood tests do not come cheap) on this journey, but it was a good use of the cash. And we are lucky to have been able to afford it. And I've yet again had time to be a bit more thoughtful about life, death, and babies. Never a bad thing.