A long week...

OK, so last Friday morning we had our ultrasound and saw that we were getting another baby girl. Just a couple hours later we got a call that one of our test had come back abnormal. We weren't able to get an appointment with genetics until today, so I have saved this news until we knew a little more.

First things first, we are pretty confident that everything is going to be just fine. Here are the details. Back at week 13/14 we had a First Trimester Maternal Serum Screening, the results came back with everything totally within the "normal" range. (This is a screening for Downs Syndrome and Trisomy 18). Then right before week 18 I had more blood drawn for what was supposed to be just an AFP screening. Well, the lab went ahead and tested me for Down Syndrome and Trisomy 18 (which is the standard triple test) again and this time it came back with a 1:28 chance of the baby having Trisomy 18. Today we met with the genetics specialist and learned a little more.

In case you don't know anything about these tests, they are just screenings, the only test that would diagnose this for sure is an amniocentesis (which carries a small risk for miscarriage). After an abnormal test they look to your ultrasounds to see if the baby has any "markers" for the disorder. We only had one, the same kind of choroid plexus cysts in her brain that Amelia had. We also had some really positive signs that she is ok, like normal feet (not rocker bottom) and hands that open and close (they are not clenched).

Here's the thing, the first test, the "new" one that is supposed to be the more accurate screen, it came back with a 1:16000 risk for Trisomy 18. The second trimester test, the old standard, is the one that put us at a 1:28 risk. Hmmmm. I think I will just try and look at that 1:16000 and ignore the 1:28 until I have more of a reason to worry.

We have an ultrasound scheduled in a few days to follow up on the cysts and make sure that they disappear (just like Amelia's did). Then we will also follow up that ultrasound with additional ultrasounds to make sure she is growing on target, Trisomy 18 babies typically have delayed growth.

For now we are going to look at the big picture and not the small number.