Here is my story and where I’m current at (13w3d pregnant). Wondering if anyone has been thru something similar...

My first trimester screening blood work came back as showing an increased risk for DS (1/83) due to low PAPP-A and high HCG. My AFP was very low (1st percentile). The US showed a nasal bone and good cervical fluid (1.7mm).

I then got my extensive NIPT results which showed low risk for everything.

After speaking with a genetic counselor she I informed me that with all the information we have so far my risk for DS is actually more like 1/7300 which was so relieving BUT she then told me that I have a 1/50 chance for another chromosomal abnormality (something that wasn’t tested for in my NIPT).

At this point I’m emotionally exhausted and wondering what to do next. I’ve been offered two options right now:

1-do the genome NIPT which can test for more abnormalities but only large ones, which will still leave a gray area and me wondering.

2-have a CVS done in the next 2 days because it needs to be done in the 13th week OR wait until after 15 weeks and have an amniocentesis.

I also have my seconds trimester (16 week) US and bloodwork in about 3 weeks which will also give some more information but again won’t be 100%.