Omg that is horriffic that your obgyn was pushing for termination! The doctor I saw (not my normal ob, a different one in the same practice) told me to not get my hopes up and it was a good chance she has it. I truly wish I never had the test done, because it planted a seed of doubt. The false positive rate is much different. Our ultrasound showed two tiny holes in the heart, one was a soft marker for downs due to the location - which us why we opted to do the NIPT test. Was told I would lose her because she had TS show up on the chromosome testing. Special Issue: Proceedings of the Turner Syndrome Resource Network Symposium. NIPT is done to screen for fetal aneuploidies (extra copies of specific chromosomes) such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). My husband and I just got our NIPT results back a few days ago and it was 73% positive for Turner Syndrome. I hope the rest of your pregnancy healthy and uneventful! I’m super late to replying to your post, but I just wanted to say that your post is giving me hope! It's gonna be a long 2 months. BabyCenter is committed to providing the most helpful and trustworthy pregnancy and parenting information in the world. J Matern Fetal … I saw SO many FALSE POSITIVES for Turner Syndrome. The more affected cells you have, the more likely you are to have symptoms of Down syndrome). Learn more. I think in the future i would just go straight for the amnio (but i am convinced this will be our last addition to our family, so hopefully wont need to go through all this again) as the NIPT also costs an additional $700, not to mention added stress with a positive screen result. Claria NIPT’s SNP based methodology is highly sensitive and specific with low false positive and negative rate *Eswarachari V, et al. Additionally, these tests do not analyze full sequences of DNA, but free cell DNA, which is broken. Did the amnio and everything came back fine. The geneticist we met with via our high risk OB said there was a 25% chance false positive. I'd urge anyone else to do the same (or get an amnio if you are willing to take the risk for the extra knowledge). When I mentioned this to the doctor she said “don’t believe all you read on the internet. The opposite is also true (positive test results are more likely to be "true" when the condition is highly prevalent). The NIPT tests are unreliable and not FDA-approved. This means that they have a 62% rate of false … It's amazing how many OBs do not understand NIPT results. This suggests that some of the pathophysiology of Turner syndrome occurs early in fetal life and presents novel opportunities for consideration of antenatal treatments. I’m a researcher by trade and well, naturally when I got my results I went straight to the literature where I discovered a lot I wish I understood about these tests before I did one - including what their “99% accuracy” figure actually meant - which is that in 100 cases of a fetus with the syndrome, the tests will find 99 of them. That number (amount of positive screens that are confirmed) is called the positive predictive value which I discovered for turners is between 8 and 20%! This is a very high rate of false positives. Just so you know, we may earn a commission if you buy something we've linked to here. If I had known all this I would have thought twice before having the prenatal test done. So happy you had a positive outcome! Thanks for sharing your story and congratulations on your healthy baby! My daughter is now 2.5 and perfect. There is also increased awareness of women who have constitutional mosaicism for 45, X who are fertile. Underlying biological mechanisms for false positive monosomy X screening results include confined placental mosaicism, co‐twin demise, and maternal mosaicism. On the bright side, I feel like I have gained a lot of knowledge about something I had never heard about before. Please check your email for instructions on resetting your password. Now they are suspecting I am a carrier even though I have never shown any signs of it and want to send out the placenta after delivery. Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization. In contrast to the very high positive predictive values (PPVs) achieved with cfDNA analysis for trisomy 21 (91% for high‐risk and 82% for low‐risk cases), the PPVs for monosomy X are much lower (~26%).