What a week! I was home sick this week and if that wasn't bad enough, I got a call from my doctor to come in immediately to discuss my genetic screening results. I had agreed to do some testing early in my pregnancy to screen for things like Down's Syndrome and Spina Bifida. I assumed from the, "come to my office immediately," that my results were likely to be unpleasant.
I was right. I found out that I had screened positive for Down's Syndrome. Now, this does not mean that my baby has Down's Syndrome. It just means that I am more at risk to having a child with Down's as opposed to the norm for my age. At my age, there is a 1/568 chance of a child with Down's. My results came back 1/166. Anything that screens lower than 1/200 is considered a positive screen and thus you are considered more at risk. Now that sounds really scary, but the numbers and the odds of having a less than perfectly healthy child are still incredibly small. 1/560 is a 0.2% chance of a problem and 1/166 is 0.6% chance of a problem.
All this means is that I have to decide whether I want to do further testing. It is a lot to take in. I went from panicked, to unclear, to calm. At this time, there is no point in over-reacting or being stressed. That will just ramp up my blood pressure. The test that is being suggested is called an amniocentesis. Essentially, they want to stick a big needle into my abdomen to collect some amniotic fluid to analyze. This test will determine accurately whether my baby is fine or has Down's Syndrome. The test itself is supposedly done routinely now and the risk of harm to you or the baby is low but it is not 100% risk free. There is a 1/600 - 1/800 chance of miscarriage. The doctors further complicate your decision by then saying that given the odds there is something wrong with the baby (very very small), if you did decide to do the procedure and there is a problem, chances are you'll be miscarrying a perfectly healthy baby.
It is a big numbers game. The risk of miscarriage with an amniocentesis is even smaller than the risk of a baby with a genetic disorder but is any chance of miscarriage worth knowing 100% for sure that the baby is fine when I've already been told there is a 99.4% chance everything is fine??? Confusing, no?
Anyhow, we are holding off on extra testing for now. I have my second trimester ultrasound next week. Apparently, this time they will scan for "soft markers" or physical characteristics associated with chromosomal problems. I've been told that if my ultrasound turns up nothing that my risk level diminishes substantially to the point I'd no longer be considered at risk. On the other hand, if they do see something, it may still mean nothing, but my risk factor will rise and I will likely opt for the big needle in my belly.
So yeah, this has been my week.



















