22q 11.2 Sindrome pozitive Nipt Natera
Hi everyone,
I’m looking for some hope, experiences, or advice from anyone who has been through a similar situation.
Here is my timeline so far:
10w+2d: Had my NIPT blood draw. Fetal fraction came back at 6.9%.
12w+3d: Had my formal 1st trimester anatomy/morfology scan, and everything was absolutely perfect.
12w+4d: Results came back the next day after a long 2-week wait: Positive/High Risk for DiGeorge Syndrome (22q11.2 deletion) with a 1/2 PPV (Positive Predictive Value).
12w+4d (Same day): Panicked and rushed to my OB for an emergency ultrasound. The doctor double-checked and confirmed again that everything looks perfect so far—heart, jaw, and mouth all look completely normal.
12w+6d (Today): Because it’s too early for an amniocentesis, my doctor performed a CVS (Chorionic Villus Sampling) instead to get faster answers.
I know that DiGeorge syndrome is a microdeletion, and NIPT has a notoriously high false-positive rate for microdeletions compared to common trisomies. I am holding onto the two clear ultrasounds as a very good sign.
For those of you who had a high-risk NIPT for DiGeorge but went on to get a negative/normal CVS result:
- Did you trust the CVS 100% and stop testing?
- Or did you still feel the need to do an amniocentesis later on in the second trimester to be absolutely sure? (Since CVS tests the placenta and amniocentesis tests the baby directly).
I am spiraling while waiting for these CVS microarray results. Any stories, insights, or comforting words would mean the world to me right now. Thank you