So, I was surprised to see that there is no forum on here to discuss issues related to genetic testing and special needs babies. Given that older moms are higher risk and required to go through all this elaborate testing, I just posted this to the board for Pregnant and over 35, but I'm now realizing that this may be a better place for this topic. Sorry for the redundancy to anyone who traffics both boards. I'm hoping that either someone who has been through this can offer some wisdom or that there others going through this who will be looking to share their stories and empathize.
I am 37 and 13 weeks pregnant with my second child, another boy. A couple weeks ago, I did the MaterniT21 testing along with a blood test, and the MaterniT21 results indicated everything was fine. So, last week, I expected my nuchal translucency scan to be uneventful. The results of that were normal. Then came the big shock. I was brought in immediately afterward to talk to a doctor who told me that my blood test showed that I had a 1 in 8 risk of having a baby with Down's Syndrome because my PAPP-A levels were low (.37 MoM) and my hCG levels were high (2.24 MoM). Both the doctor and a genetic counselor I met with after felt my baby didn't have Down's but that another chromosomal abnormality was likely.
So, I had a CVS and agreed to a direct chromosomal microarray test from it. I got good results on the initial "FISH" test (indicating no Down's) but the other results were supposed to arrive in a week. I just got word that the lab didn't get enough of a sample from the CVS to do a direct array and has to do a cultured array, which means that I won't get the results for a month. As a result, I'm a total wreck. Anyone else been through or going through this? I feel pretty alone, so if you're out there I'd love to hear from you.