What I didn't want to hear

We're expecting another baby, due Dec 3rd. We were very excited. Then, yesterday we met with the Dr. and he did the initial ultrasound-- I'm 9 weeks along. As part of the ultrasound, he did a Nuchal Translucency Screening-- which basically means he looks specifically for fluid at the back of the baby's head, near the neck-- the nuchal folds, as a screening test for Downs and other Trisomys. It was positive-- the baby has fluid there that shouldn't be there, it was obvious enough that I could see it on the ultrasound. So they have recommended I have an amniocentesis test done, which can tell us for sure. (They use a long hollow needle to draw out some of the amniotic fluid that has some of the baby's cells in it and grow the cells to test them.)

Most likely the baby has Trisomy 13, which is what Jason had. Other possibilities are Downs, Trisomy 18, Turners (only one sex chromosome,XO), or congenital heart problems. The screening only has a 5 % false positive rate. And 5% isn't much to hold onto. Especially when you flip it and say there is a 95% chance that there is a chromosomal problem.

Trisomy 13 is similar to Downs (trisomy 21), but more severe and is basically a death sentence. Many times babies with Trisomy 13 die in utero sometime along the way, with Jason I had to lay down for 30 minutes-an hour every day and count kicks to make sure he was still alive. Of those who are born alive, 25% die the first day, and 86% within the first year. The median age is 2.5 days. Jason lived 2 days.

We've skipped the amniocentesis in the past, because we're not willing to have an abortion anyway, and it has a 1 in 300 risk of miscarriage. But the Dr. is strongly recommending it this time so we can be prepared and they will know for sure what they are dealing with. With Jason, we didn't get the conclusive chromosome tests until several days after his birth, but he had so many physical characteristics that showed up on the ultrasound that they were pretty sure just from that.

I'm still basically in shock. I don't want to have to go through all this again. I don't want to have another baby die or suffer. I don't want to have to wait and worry and wonder. I don't want to have faith and trust, but I don't get a choice. The odds of having a baby with Trisomy 13 are less than the odds of having triplets. Triplets is 1 in 8,000; Trisomy 13 is about 1 in 12,000. So right now, it's basically the waiting game-- 7 weeks until an amnio, and then after the amnio it takes about 10 days to get the results.

There is nothing anyone can do right now, but pray. And hope maybe we can be in that 5%.