Hi,
Has anyone took the vistara single gene nipt test and got a positive for a rare gene mutation such as noonans and then took an amino test and the amino came back negative? Hoping for a false positive on my babies test
Our unborn daughter 17W2D was just tested positive via visitara single gene NIPT test that she has Noonan syndrome-like with loose anagen hair 1. What triggered the OBGYN to test our daughter was because her NT measurement was 3.1 mm At 13W3D. Barely over the 3.0mm threshold where we live. This is a very rare condition only 100 world wide. The fetal fraction they used for this test was 6-7%. We are getting amino tomorrow to confirm if diagnose is true positive. We are also meeting with genetic counselors next week who specialize in noonan Syndrome. my fiancé and i have never heard of noonan syndrome, especially the disorder our daughter has.
Hoping visitara was a false positive. If you know Anyone who has this disorder or similar, please share how baby is doing after they were born. For example, heart issues, GI issues, facial differences, learning disabilities, slow motor skills, meeting milestones, hearing, sight, just everything. The internet tells so much of the negative effects this disorder “could“ bring but never includes the positives. I know noonan can range from very mild to very severe.
We joined Facebook groups on this but still have very little info on it. Please help a first time mama out! 🙏🏼