Today we had our appointment with a Maternal Fetal Specialist. I am 11 weeks and 6 days. They took several measurements and all of that looked great. They then gave me the results of my genetic blood test which was not good. I have a heightened risk of trisomy 18 (which is fatal) and down syndrome. I also have low PAPP-A which officially means my pregnancy is high risk (it is associated with the placenta). It increases the risk of miscarriage, preeclampsia, fetal growth retardation, and a few other things.
My doctor said he does not think that our baby has trisomy 18 or down syndrome. The test shows our risk now is 2%. We also had PGS which is about 99% effective at identifying these chromosomal issues. He thinks my main issue is just low PAPP-A and the potential complications it can lead to.
We decided to do a CVS. It causes a miscarriage about half a percent of the time. If it does, the miscarriage will happen in the next 48 hours. I know it is a risk but I really feel like I need to know what I am dealing with. They said they can usually do a CVS vaginally but for some reason, they had to go through my abdomen. It hurt a lot. We will get preliminary results on Monday and full results in 10-14 days. They will also use it to conduct a chromosomal microarray test which is more extensive than our original tests.
Right now I am devastated. Even if the CVS test is ok, I am still faced with a bunch of higher risks. I was really looking forward to getting to 12 weeks (which is tomorrow) because the risks of so many things go down at that point.