I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. It's a very slim chance. Yes, we had a false negative for Trisomy 18. There are some options filled in, but you can also write in your own result. She had DS and that was the least of our worries. The NIPT also came back positive for Down syndrome. There are a number of potential symptoms, including being short and having fertility problems. The Harmony test came back clear and we relaxed. Thank you for your response. We go through life and any manner of things can crop up down the line. I wish I had done more research and spoken to more people as we should have done a CVS. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? Got an amnio which confirmed full trisomy 18. This educational content is not medical or diagnostic advice. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' Good luck! Im sorry youre dealing with this! She shows no symptoms of Turner Syndrome. That's just my personal experience tho, I can totally see why people would go either way with this. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. She called back the doctor who had told her about her result on the phone and asked if this could be correct. I completely understand about the anxiety it may have caused. It was so helpful. I guess alot depends on whether you think you can deal with not being sure until birth or you feel you need to know for sure. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. This is helpful to know! That being said, we did still have the 1:60 score from the quad, which is worriesome whether we were supposed to see it or not, but after having a clear ultrasound with no soft markers at 18 weeks and no markers at the NT ultrasound combined with the 99.2% reported accuracy of the NIPT, we made a personal decision to decline the amnio. LO is 6 months on Sunday and is perfect! I'm unclear. Confirmed both FISH and NIPT. ", Analysis by Robert Cuffe, BBC News head of statistics. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. They are testing my husband now. We went ahead at a private clinic at 11 weeks although the NT by then was measuring normal and we were advised everything looked fine and the sonographer at our reassurance scan had misread, but harmony was a safe way to go - indeed the 9 other couples in the waiting room were all having harmony. Or what would be the normal range ? I just had my nuchal translucence ultrasound at 13 1/2 weeks, and the doctor measured an increased thickness in nuchal translucency, which is an indicator of chromosomal abnormality or heart defect. think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. At my 20 week anatomy ultrasound I had 2 soft markers appear. Please whitelist our site to get all the best deals and offers from our partners. Ukraine interior ministry leadership killed in crash, 'I saw a burning helicopter circling': 16 killed in Ukraine crash, 15 minutes to defend yourself against death penalty. "I just remember thinking this is science, this is fact I couldn't stop crying, I couldn't walk more than 200m at a time, I just felt hopeless.". It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. I only plan to do an amnio if something life threatening shows up. i hate the way society views ds. They just called it aNIPT, it was done by Progenity. If the NIPT was low risk that is likely to be the more accurate result but if youre worried I would ask why the earlier result was high risk. This limit does not apply to high risk pregnancies. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). I did the Panaroma NIPT test at 10 weeks. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. This is where we found out it was a mosaic diagnosis for T21. The Papp-A came back normal. Thank you for those figures I was just told Nipt came back low risk but "it is only a screening test and false negatives can happen and you can still have the amnio if you want" I was never reassured that nipt is really accurate. And if so , did the nuchal give a positive for Down syndrome or any other need whilst the Nipts said it was negative ?If so which one did you go by ?This is my dilemma. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. Our son just turned 1 and he's doing fantastic!!! Can you share what your third trimester amniocentesis was like? What does OHIP cover? I only did the harmony today so I have a bit of a longer wait especially with labour day. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. I no longer see that doctor. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. If the sonos are normal I always ask people wait for an amnio. As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. Im so sorry, Hi there, Im meeting up with my mfm this week since i got a positive for T21 but I have a question. Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. Create an account to follow your favorite communities and start taking part in conversations. During this difficult time you may be looking information about what the NIPT results you received mean. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. I had a negative NIPT at 14 weeks but at the 20 week ultrasound they found an AVSD so I had an amnio and that is when they diagnosed my son with mosaic Down syndrome- pretty rare as it only accounts for 1-2% of all Down syndrome cases. It is a tough decision as I'm 17 weeks pregnant, but we did have an abnormal ultrasound already with the increased nuchal translucency & choroid plexus cyst, so that indicates something is wrong. My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? You should do invasive testing before making any decisions. Hey there Im so sorry youre here. This post is meant as a welcome and quick information / resources to those who have just found this sub. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. When Claire Bell became pregnant she paid for a test that would indicate whether the baby had Down's Syndrome - and agreed to be screened for some other rare conditions at the same time. (In a statement, the clinic Claire went to says its patients are "explicitly counselled on the use of the test and possible outcomes" and that they are given a full explanation of the conditions NIPT may detect - as well as an explanation of the test's limitations.). So the quad test test takes into account age (27 I was 26 at the time) ethnicity, BMI ( I am over weight) and diabetes, the blood taken measures Alpha-fetoprotein (AFP), a protein made by the developing baby Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. Claire Bell did not have an invasive test, because the more she read about the NIPT test as a method of screening for Turner Syndrome the more sceptical she became. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. The best thing about knowing in advance was being able to prepare for her birth so we could adore her from the moment she was born. One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King's College Hospital, says that women who have received a disturbing NIPT result in a private clinic often fall back on the NHS for help. A test result can sound like a near certain diagnosis when the test says it's 95% accurate. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). I also would like to get another scan. There's actually a board on here for those specific NIPT tests. Good luck and stay in touch with your results! But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. I was monitored by an ultrasound tech as the sample was collected so they knew my uterus had not contracted during and therefore there was very little risk once I took it easy for the rest of the day. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! This message is automatically generated for all submissions and might sometimes get it wrong. Note that once you confirm, this action cannot be undone. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. Though for women who have had fertility support, an earlier ultrasound may be done. I completely agree with you. "She is healthy, beautiful and full of smiles.". False positives are waaaay more common. False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. Okay. Since there are abnormalities on ultrasound, it makes sense to do a CVS. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. FISH results after she . My doctor cud tell from US that my uterus had not contracted during the procedure, so I was allowed leave quite quickly-- I think if there was contraction they wud have kept me a whole to make sure it settled down. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Harmony is what I took! The #1 app for tracking pregnancy and baby growth. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Hope that helps a little?? If he has this as well, then it would be considered benign. i hope you have a healthy rest of your pregnancy! I have my level 2 ultrasound tomorrow and I'm hoping for a clear scan but even then hope that it will be enough to feel that we should be confident in the Harmony results and disregard the quad screen results. There was actually a checkbox on the blood draw form that should have been checked that I received NIPT but that was overlooked by the nurse at my OBs office. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. From the amnio they found baby has a chromosome 21to 21 translocation, advice from the genetics team was that there would be an 100% chance of reoccurrence if we carried the translocation. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, The second she was born, I knew and moved on. Has anybody ever had or seen anybody have a false negative NIPT result? The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. Thats wonderful! THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Create an account or log in to participate. I had amnio at 28weeks due to my worry about the risk of miscarriage, and as my consultant said the risk then was for prematurity but baby had an excellent chance of surviving if the worst had happened and I went in to labour. So I'll try to repeat what we were told. We are very similar. I got the FISH results from my CVS back already, and it is also negative. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. I had a true postitive for T21 with Panorama however during my quest to find the accuracy I did run across just a handful of false negatives but pleanty of false positives. They were told he wouldn't walk, talk blah blah blah - he does both, is a lovely little boy and he's thriving in a specialist school and is such a fabulous kid. Generally quoted at a 1% risk, but she performed it herself and given her experience was confident enough to say she thought the risk was lower than that. I completely understand and my head hasnt stopped spinning. I also agree about people and doctors and how they view DS. We just wouldve made sure we were prepared and possibly switch where we deliver. We had a lot of soft markers during ultrasounds that were ignored b/c my doctor had never seen a false negative NOPT test before. I appreciate those who chime in as we all remember how difficult to be in this situation. She is small, but there are short genes in the family. "It was this miraculous pregnancy," she says. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. I didnt know to ask about that and figured I would be retested if it was low. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false.. I'm thinking of asking for a NT remeasure. Waiting on our CVS results we did Friday. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. Use of this site is subject to our terms of use and privacy policy. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. False positives are more common than false negatives. its an extra chromosome not a death sentence. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. But the ultrasound that was done at 10 weeks is technically too early to check fluid behind the babies neck so theres a chance things look better on Monday. Thank you! Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Doing a lot of research into what to expect, but overall still so excited and love this baby just as fiercely as before I knew. I am 22 and currently 13w, this is our first pregnancy. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. Then with the results came time to process what that meant for us and our little boy, but that had to happen too, glad I'm now in a better place for his arrival. What can cause a false negative Down syndrome test? After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. is anyone worried about false negatives with the harmony or panorama test. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. I was told the accuracy of the test is 99.9% or something like that. When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. First time pregnancy here.Im 32 years old living in Canada. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. A negative NIPT equates to roughly a 1 in 70,000 chance. Hey there, my daughter was born with a duodenal atresia. Note: I see I am supposed to add flair but it won't let me. She said the NIPTs all use very similar technology, and a negative result one one would almost certainly result in a negative result on the other. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Was it bc of a blood test or the NT or age? PLEASE READ THESE LINKS - this will explain everything. Consultant had not seem this b4 so presumably rare, referral centre for cardiac care had seen it but only where NIPT done at its earlier limit eg 10wks. My doctor was confident and reassuring regarding the procedure which was aassive factor. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. Had to TFMR at 22 weeks. Right now we have a 1 on 20 chance of DS that's why we did the harmony. Mariegol, why were you given a 1:32 chance? I'm in an urban area, if that makes any difference. the measurement came back at 1.5.. Normal! Don't let them stick a needle into you.". We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di Yes, I had a negative NIPT and a birth diagnosis of DS. This updates the flair on your username IN THIS SUB ONLY. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. I had my AFP blood test done last week and I am worried that the results may come back with positive results but I am going to choose to focus on the Panorama. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Excellent NT Scan, Positive Blood Results. My OB says she has not seen it but since this testing is so new the sample size is not huge. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. Like I said, this is our first pregnancy and we are so scared. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. In June 2018 Claire's daughter, Fintry, was born. But that isn't the case for rarer conditions like Turner Syndrome. A US technologist scanned the midline of my bump as the consultant put in the needle, I just focused on baby on the screen the entire time. I could c the needle come in, while baby happily kicked about as usual. I feel like it's creeping up on me again. So, in my case, the NIPT negative was a true negative. If so at what week? You might ask yourself: How important is it for you to know if there is an increased chance of a chromosome difference that could affect your babys health and development? Its a very slim chance. NIPT has been available privately in the UK since 2012 and is available to any woman or couple who want to pay the bill of up to 500. Please specify a reason for deleting this reply from the community. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. Its well known that with NIPT, there is a risk of false positive cases due to the fact that the analyzed fetal DNA has a placental origin and another important factor is that placental mosaicism can give discordant, and therefore, invalid results (2630). But my NT was elevated at 3.3. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has "a high failure rate" - a low detection rate and a high false positive rate. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. The answer was, they didn't do this. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. The Society of Obstetricians and Gynaecologists of Canada recommends that all women have two ultrasounds: one dating ultrasound at 11-14 weeks and one anatomic ultrasound between 18-20 weeks. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. For me it was worthwhile to know, but that's a personal call. Read about our approach to external linking. Did you end up doing an amino? The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Find advice, support and good company (and some stuff just for fun). The other thing to keep in mind is that none of this is an exact science. , Thank you for your reply! Best of luck! 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