I had a 95% result from the NIPT blood test, but no soft markers on the ultrasounds. A fetal echo did pick up a heart defect, but that's it. No other abnormalities or issues. The only reason they checked the heart was because of the NIPT results. If it weren't for the NIPT I'm almost positive I would have had a birth diagnosis. Only about 50% of babies are caught on ultrasounds. The only way to confirm is through an amnio (which we refused because there's ~1% risk of miscarriage) or a blood sample at birth. They confirmed by taking blood from the umbilical cord for us.
I know it's a lot to take in, but this baby is a blessing no matter what. Our son brings us SO much joy and love. There are more dr appts, yes, but it's not bad. I recommend reaching out to your local down syndrome association and joining some FB groups if you're ready. I wish I had done it while I was pregnant, but I was in denial for so long unfortunately. The unknowns of anything can be scary, but looking back on it, I wish I hadn't lived in fear because the worst case scenarios the doctors tried to scare us with didn't happen to us. Our son did need heart surgery, but 1 in 100 babies are born with a CHD. It's not just children with down syndrome.
@Ashley cvs has a risk of miscarriage as well .
I'm 30 weeks nothing else has picked up on the second set of results . I've had plenty of scans and had a heart echo at great ormond street .