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2001-07-08

Hi there. It's a rainy Sunday afternoon and everyone else--B and the three dogs--are napping. I've just spent a little time going through the boxes of maternity clothes I've accumulated from thrift stores over the years. It's very odd, having one's body grow steadily larger by the week. I find I like it, or at least don't mind.

It's been a while. I've actually had a couple of pieces of good news to report. Not this past Friday but the previous one I spilled the beans to my boss's boss. She responded about as positively as I could've imagined. This woman has a reputation as being child-averse so I was a bit nervous, but she was excited for me and seemed unconcerned about the time I'll be taking off.

She in turn told the big boss. I was less nervous about him as he's got a couple of kids he's crazy about. As I'd semi-expected, later that afternoon he paid me a visit and waxed rhapsodic about parenthood. He told me an anecdote he'd heard some comedian (Paul Reiser?) tell. He'd recently learned his wife was expecting when he had an opportunity to meet Bruce Springsteen. Springsteen told him he had one piece of parenting advice he wanted to pass on. The guy, who really admired Springsteen, prepared himself for something profound. His advice: "You know those portable cribs you can buy? Get one of those, they're great."

Anyway, that was a great relief. Another great relief came the following Monday when I met for the first time the doctor who will probably attend my labor. I liked her a lot. I told her I'd been hanging around some home birth types who've been making me a little nervous about giving birth in a hospital and could she reassure me that I'd have plenty of time to let my body do what it needed, that I wouldn't have to be fighting off interventions.

Her response was excellent, not only for what she said but how she said it. She completely understood my concerns, was glad I was raising them. She went on to reassure me that their cesarean rate is the same as that for the local birth center (very low). And all the other stuff that had me mildly worried. Of course, the very reason I chose this practice in the first place is my sense of where they stood on these issues. But some people around me have been painting with a very broad brush a picture of what happens to you once you set foot in a hospital and it certainly isn't pretty. So that was very positive and reassuring, and left me feeling really good.

Then a few days later something happened that was not so good. B and I went for a second ultrasound, sometimes known as a level II or genetic ultrasound. The idea is to look closely for certain traits that correlate with certain chromosomal abnormalities, and the primary reason for doing this is that we are disinclined to have an amnio. Except for the amnio, which is about 99 percent accurate, all other testing is not diagnostic but predictive--it gives you odds that are better or worse but no definitive answers.

Our previous ultrasound was part of a relatively new (in this country) screening protocol. Based on examination of the nuchal fold at the back of the baby's neck and a specific type of blood test, I was given odds of 1 in 1261 for Down syndrome. This compares to roughly 1 in 175 based on my age alone (I'll be 38 when I deliver). That left us feeling pretty good.

Well, this most recent ultrasound revealed the presence of one of five "soft markers" for Down syndrome. It's called an isolated echogenic focus, and it has to do with the way that the left ventricle of the heart forms. It's not a functional defect--it's really quite benign, and roughly 5 percent of the non-Down syndrome population has it. However, 18 to 20 percent of the DS population has it, and its presence increases the likelihood of our baby having DS by a factor of four to five.

This means that the odds went from 1 in 1261 to 1 in 280 or so. Which still means a better than 99% chance of a non-affected baby. But it's a little bit unsettling. Many people in our position would opt for the amnio to be certain. Hell, many people whose only risk factor is--as the literature so charmingly puts it--advanced maternal age would do the same. But the odds of miscarrying as a result of the procedure are 1 in 200. Greater than the odds of the baby being affected. It is not unheard of for people to miscarry after the amnio only to learn that the baby was chromosomally normal.

Our inclination is to do nothing. I just can't see taking that risk unless we intended to abort a DS baby, which we do not. Yes, the information would be nice to have, but not at this cost.

I'm pretty optimistic by nature. The odds of 1 in 280 are still better than the odds based on my age alone. Of course, someone has to be that one. Oh, it's all a very odd thing. As a doctor friend pointed out to me, thirty years ago if you had a DS baby, everyone responded with sympathy. Now, they tend to respond with questions. Even if they don't ask the questions, they tend to wonder things like, At your age..., Didn't you have an amnio.... etc. This depends a lot, I believe, on the nature of the people--how religious they are, how intellectual. We live in such an isolated kind of way that I'm not really that concerned about other people's reactions, but it is interesting to consider. It's fascinating, as is this whole field. I think it's safe to say that the scientific possibilities and the emotional realities are a little of sync.

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