Genetic Counselling

We met with the genetic counsellors today. You know what's awkward? Running into a former colleague who consults for the the health authority, and who was all "Hey, how are you? What are you guys up to?" as you're fidgeting under the big sign that says MEDICAL GENETICS.

In the counselling section, they have two waiting rooms. One for the families with all the little babies, many of whom are presumably affected with the things being screened. And there's one for the pregnant women being counselled on, among other things, the possibility of termination (that's the elephant in the room during these consultations.)

Very, very mercifully they had received the results of our serum testing in time for the consultation. We were told it "screened" negative at 1/3100. This is probably familiar territory to most of my readers (all 6 of you! Ha ha) who have been through this recently, but the screening is not diagnostic. It gives you a probability. In our case, anything higher than 1/350 is deemed a "positive" screen. Most, but not all women carrying Down Syndrome babies will screen positive. Many, many people who are carrying healthy babies will also screen positive. Anyway, if you're screened positive you're offered amniocentesis which can give you a definitive result. The reason not all women are offered amnio (aside from costs, obviously) is that it has some risks for the fetus.

The screening test is not perfect: some Down Syndrome babies (we were told 22%) screen negative. But when you look at the math, it's highly likely percentage-wise that if you screened negative, that you are indeed negative, and not having a DS baby. So we breathed a HUGE sigh of relief knowing we were negative.

The markers were still a concern, and they discussed those with us. In the counsellor's opinion, it was still appropriate to offer us an amnio given the fact that there are two markers, so I assume that they feel that two markers brings us closer to the 1/350 mark which is the usual amnio cut-off. However, there is no real research to give us an accurate number of what our two particular markers mean.

And if you want, they will discuss termination - apparently, you can terminate for chromosomal abnormalities up to 24 weeks. Amnio results take 2-3 weeks because it involves them culturing cells and growing them. (See the problem here?). But you can get preliminary results in 72 hours.

So the next question, given all this information, is why have the amnio? In our case, we had pretty much decided that we would not be terminating a fetus at the gestational age we are currently at (22 weeks, plus whatever time it takes to get the amnio booked and get the results and schedule the termination). I think it's a very personal decision, and I understand why people would make a different one. But in our particular situation, I don't think that's a choice we'd make. So if we get the amnio, it would be more for peace of mind, or to "prepare" ourselves.

Part of my is tempted to know for sure, one way or the other. If our screen had been positive, I would definitely want to know. But right now, I feel like the chances this baby has DS are very, very, low. And there are lots of good indicators - for one thing, she's big and DS babies are usually small. And her femur length and nuchal fold (other, imperfect "soft" markers) are good. And there's nothing structurally wrong at all.

On balance, I think going through the procedure and waiting for the results would likely increase my stress level for quite a while. And then I'd worry about miscarriage. And of course, the worst case scenario is that I have the amnio, the results are negative, and I end up somehow damaging a healthy fetus. Finally, I don't believe that knowing in advance would really prepare me if she does in fact have DS. So although I've given myself a day to consider this, we're fairly certain we will not do the amnio. They also confirmed that a home birth is still a possibility, even if our baby was a "confirmed" Down Syndrome baby, so I don't feel I need the information for that reason.

Overall, we both feel confident that this is a healthy baby and we're going to proceed on that assumption.

I know I sound pretty calm and rational, but I have had a lot of anger this week too. I'm angry at the process. It seems kind of fucked to me that some radiologist sitting in a room can write something like "multiple markers of aneuploidy" and never get to see the mother's face when she reads those words. I know the reports aren't written with the expectation they'll be read by patients, but isn't that kind of fucked too? I will never meet that doctor or be able to ask him any questions about how he came to that conclusion; no one can answer the question about how confident he is in the measurements he found, or how often he sees this. I'm left dealing with the middlemen and the generalists.

The kidney measurement, by the way, was 0.4 mm outside of normal. Seriously. I have friends who have been told that their babies are going to weigh 10lb when measured by ultrasound and they come out weighing 7 lb, yet this guy is making a finding based on a measurement of 0.4mm. And maybe that's completely legitimate and highly accurate, but how am I supposed to feel confident in that finding when I can't ever ask any questions of the only person who actually understands how it is you measure these things? I probably would never even know it was only 0.4mm off normal except that I specifically asked to receive a copy of the report.

I also think these soft markers are slighty bogus science. Yes, they do mean an increase in Down's. And it is still a possibility that our baby has Down Syndrome and these markers, in retrospect, will have been a good clue. But overall they're a pretty piss-poor predictor. No one can tell me how many healthy babies have these two particular markers, versus how many Down's babies do. If they're going to use these to make recommendations, shouldn't there be some more information about that?

I will say the one thing I'm not angry about it is the care I got from the individuals I actually dealt with. I got a half hour conversation with someone explaining the results, I got faxed the report (at my request), and I then got a 45-minute meeting with the midwife and a one-hour counselling session. I feel that, ultimately, I've been taken good care of and that, based on the limited knowledge we have, I've been given all the relevant information.

And I'm repeating my mantra: Baby is happy, healthy and strong and growing just as she should.

NB: Edited a wee bit for clarity.