The NIPT tests are unreliable and not FDA-approved. My husband and I were devastated and there was nothing we could do except wait until our 16 week high risk ultrasound and amnio. It's amazing how many OBs do not understand NIPT results. This means that they have a 62% rate of false … Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization. With thousands of award-winning articles and community groups, you can track your pregnancy and baby's growth, get answers to your toughest questions, and connect with moms, dads, and expectant parents just like you. 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%! I left that practice and found a new OBGYN. 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). 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. My obgyn joked that it can not confirm if I myself am normal though haha - but that ship sailed many years ago for me! Baby is fine! My Nuchal scan was perfect and I’m waiting for the amniocentesis, which I can get in January. Many people do not know the difference, including doctors! Our content is doctor approved and evidence based, and our community is moderated, lively, and welcoming. I hope I'll be on here soon with a definitive false positive story to share! I truly wish I never had the test done, because it planted a seed of doubt. I don't think I could have been any more scared waiting for the results. Not that it hurt, but i was an emotional wreck. If I had known all this I would have thought twice before having the prenatal test done. There is a difference between "what is the probability the test will be positive given that the baby has X condition?" Mine had stressed it is a screen, not a guarantee, and to not worry till the amnio results came in (easier said than done!). This is a very high rate of false positives. 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. Prayers that your ultrasounds keep looking good.No matter what genetics screening can tell you the ultrasound, to me is the best tool. Great news! 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. When I mentioned this to the doctor she said “don’t believe all you read on the internet. This is because the maternal plasma sample contains both maternal cfDNA and placental DNA, which is a proxy for the fetal genome. I just say specialist they did calculations with age that baby girl had 14% chance of actually having turner's. Ultrasounds have all been normal. Mom's NIPT was totally normal. If you do not receive an email within 10 minutes, your email address may not be registered, Only an amnio can truly determine if there are chromosomal abnormalities. For the fastest help on, the most helpful and trustworthy pregnancy and parenting information. A place for pregnant redditors, those who have been pregnant, those who wish to be in the future, and anyone who supports them. If you have previously obtained access with your personal account, please log in. Omg that is horriffic that your obgyn was pushing for termination! I wish more people knew this stuff. and you may need to create a new Wiley Online Library account. The geneticist we met with via our high risk OB said there was a 25% chance false positive. It saddens me that so many are suffering with these diagnoses when they're so unreliable. It is possible for the placenta to have a different chromosomal makeup than the fetus (confined placental mosaicism). Fortunately, our amnio came back and we were told she had all chromosomes...NO TURNER SYNDROME. Please check your email for instructions on resetting your password. It's also maddening that the next course of action is often an invasive CVS or Amnio, which carry risks to the mother and baby. The tests have a >99% specificity rating, meaning that out of the babies actually born with Turner Syndrome, they correctly identified Turner's in more than 99% of the cases. 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. Sometimes NIPT gives a high chance result when the fetus does not actua… This baby was quite symptomatic, which is how we picked up the problem at birth. My OB (at the time) recommended it and told us we would find out the sex of the baby early. There is also increased awareness of women who have constitutional mosaicism for 45, X who are fertile. May your pregnancy be uneventful from here on out! This product is matched to user comments in this post. Many posting in these groups (even doctors) have made statements about the NIPT test being 99% accurate - this is simply not true. I could have written this. The amnio itself was quick and relatively painless, and my amazing hubby made sure I didnt need to lift a finger the weekend after the test. I saw SO many FALSE POSITIVES for Turner Syndrome. 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). I have been reading many of the comments in this group, as I just recently received a positive NIPT for Turner Syndrome. We chose not to have any further testing done prenatally. It does not mean if you screen positive you have a 99% chance your baby has that condition. 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. J Matern Fetal … I’m so happy it worked out for you! He doesn't believe baby has it but I follow up at 22 weeks. I think it's criminal that these facts are not properly explained to parents. BabyCenter aims to share products and services we hope you'll find interesting and helpful. After 2 weeks my amnio results came in normal! Underlying biological mechanisms for false positive monosomy X screening results include confined placental mosaicism, co‐twin demise, and maternal mosaicism. That is very unethical to encourage you to abort the baby without considering doing any diagnostic testing. This should be a red flag. Wow, I am glad you switched doctors. 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. Did the amnio and everything came back fine. I also wish I educated myself before taking the test rather than after. 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. (The OB said it was only 5%, similar to an amnio) Ultrasounds looked fine throughout pregnancy. The false positive rate is much different. Get expert guidance from the world's #1 pregnancy and parenting resource, delivered via email, our apps, and website. Oh wow. 99% is the likelihood of catching a real mutation if it's there. Use the link below to share a full-text version of this article with your friends and colleagues. 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. The whole experience was emotionally overwhelming and I wouldn’t wish it on my worst enemy. I'm not doing amnio, just waiting to see specialist for scan in 2 months. I am so pleased your baby's got all her chromosomes. On the bright side, I feel like I have gained a lot of knowledge about something I had never heard about before. 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%). Her blood work after birth came back totally normal. 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. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. I hope the rest of your pregnancy healthy and uneventful!