Please check your email for instructions on resetting your password. This should be a red flag. Claria NIPT’s SNP based methodology is highly sensitive and specific with low false positive and negative rate *Eswarachari V, et al. Was told I would lose her because she had TS show up on the chromosome testing. Only an amnio can truly determine if there are chromosomal abnormalities. Section on Prenatal Genomics and Fetal Therapy, Medical Genetics Branch, National Human Genome Research Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland. In some parts of the world, prenatal screening using analysis of circulating cell‐free (cf) DNA in the plasma of pregnant women has become part of routine prenatal care with limited professional guidelines and without significant input from the Turner syndrome community. Wow, I am glad you switched doctors. 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. A more helpful statistic is the positive predictive value. Research studies on cell‐free mRNA in second trimester amniotic fluid, which is almost exclusively fetal, demonstrate consistent dysregulation of genes involved in the hematologic, immune, and neurologic systems. If you have previously obtained access with your personal account, please log in. Oh wow. This means that they have a 62% rate of false positives. Great news! Not that it hurt, but i was an emotional wreck. They never actually see pairs of chromosomes (like we're used to seeing in DNA diagrams), but individual strands that they count and try to put into pairs. Several large studies have confirmed that these cell-free DNA, or cfDNA, tests have a detection rate of 99 percent for Down syndrome, with a false-positive rate of as low as 0.1 percent. That's a lot better than the NT (which has up to a 95% false positive rate), but there is no universe where people should be told to make decisions about continuing a pregnancy based on NIPT alone. He doesn't believe baby has it but I follow up at 22 weeks. The NIPT tests are unreliable and not FDA-approved. In addition to terrifying people with false positives, I have personally seen it miss a case of mosaic trisomy 21 (in English, this is when some of the cells in a person's body have a third copy of chromosome 21, aka Down syndrome, but some cells are normal. In saying that, it is still hard to seperate that fact when you are given a positive result for something. It sounds like you had a super stressful time but I'm glad to hear baby is healthy! It is important to recognize that a positive cfDNA screen for 45, X does not mean that the fetus has Turner syndrome. I had the same issue. Fortunately, our amnio came back and we were told she had all chromosomes...NO TURNER SYNDROME. It is a screening test, and while it can provide helpful information, it is far from perfect. I'm not doing amnio, just waiting to see specialist for scan in 2 months. I'm a physician myself, and I'm not super impressed with the NIPT. This matters, as it isn't a reliable method. On average (different company's have different outcomes), the PPV (positive predictive value) is only 38%. I know you want hope but you are one of 2 patients that have tested positive for Turner Syndrome in several years at the practice, and the other patient did in fact have a child with mosaic Turner Syndrome. I dont know how to link my previous post - you can find it in my history. I could have written this. I just say specialist they did calculations with age that baby girl had 14% chance of actually having turner's. Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization. I’m sorry you went through this - this also happened to me, we had a positive for turners syndrome and had a CVS which showed she did not have it - not a single cell had less than two X chromosomes. 99% is the likelihood of catching a real mutation if it's there. While my outcome has been good, i wouldnt wish this experience on anyone. It has been a rough time for my husband and I as we learned all we could about the Turners, where the closest support groups were, and how we could ensure our girl would lead a happy and fulfilled life, while waiting for the amnio results to come in. We chose not to have any further testing done prenatally. My obgyn joked that it can not confirm if I myself am normal though haha - but that ship sailed many years ago for me! My husband and I just got our NIPT results back a few days ago and it was 73% positive for Turner Syndrome. Additionally, these tests do not analyze full sequences of DNA, but free cell DNA, which is broken. Somatic loss of a single X chromosome in the mother is a natural phenomenon that occurs with aging; this could explain many of the false positive cfDNA results. That is very unethical to encourage you to abort the baby without considering doing any diagnostic testing. For the fastest help on, the most helpful and trustworthy pregnancy and parenting information. They are testing placental DNA in the mother's blood. May your pregnancy be uneventful from here on out! Get expert guidance from the world's #1 pregnancy and parenting resource, delivered via email, our apps, and website. 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%). On the bright side, I feel like I have gained a lot of knowledge about something I had never heard about before. New comments cannot be posted and votes cannot be cast. (The OB said it was only 5%, similar to an amnio) Ultrasounds looked fine throughout pregnancy. This product is matched to user comments in this post. 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. and you may need to create a new Wiley Online Library account.