My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. I completely agree with you. There are many women that are having expanded tests, they come, they are extremely worried, they have an the invasive test which is what they wanted to avoid, and it shows that the result of the NIPT test is wrong. It isn t common practice in regular pregnancy care to have one this early, but you may have one ordered if there are any concerns. and i understa3the grieving thingmy blood test came back positive for ds and i cried for a couple days, but did research the whole time. Did you end up doing an amino? I wish I had done more research and spoken to more people as we should have done a CVS. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. Wow! 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. I am sure it will be helpful for him to have supports already in place before he shows any need. Wow! Sending prayers and good vibes. 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. Why do I feel pregnant but negative tests? 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. The #1 app for tracking pregnancy and baby growth. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? My doctor was confident and reassuring regarding the procedure which was aassive factor. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? Sometimes there is placental mosaicism (variety of cells in the placenta) that can be different from the babyor the baby can also have a variety of normal and abnormal cells. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. 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. No. We were in a daze at the time. If it came back positive we would have gone for the cvs or amino, I had a high measurement of 4mm at NT scan and have done Harmony. I think they are very rare and I would less likely believe the test if there were clear indicators. Big When it finally came to an end the couple decided to try having a baby through IVF, using some sperm her husband had had frozen and stored before he had chemotherapy. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. Of course now I'm worrying myself sick that it might be a false negative and I read somewhere that NIPT tests for women under 35 are not as accurate. Totally worthless. Good luck! 2005-2023Everyday Health, Inc., a Ziff Davis company. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). i hate the way society views ds. Turner syndrome is a chromosomal condition that only affects girls. not sure which ones you have. She signed up for the test at a private IVF clinic. But in many cases, it is still most likely that your child is perfectly fine. 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/. Your post will be hidden and deleted by moderators. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. Yes, I had a negative NIPT and a birth diagnosis of DS. Read about our approach to external linking. I snapped a photo of the ultrasound report and researched it myself. I have been told that they arent 100% but can feel pretty confident in the NIPT. Haha sorry I was typing fast on my phone. yes same here. She shows no symptoms of Turner Syndrome. How are you doing now? 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 also would like to get another scan. 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.). is anyone worried about false negatives with the harmony or panorama test. Hey there, thank you for visiting the sub. The advertise a very low false positive rating but don't mention the false negatives. VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. It's a very slim chance. I'll take 1 in 70,000 any day over 1 in 7 And when she did, she found that her result might not be as troubling as it seemed. "It's just so important that women know that this test has too many false positives.". However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I d, Hi, I honestly think you should have faith in the panorama test and not do any invasive testing. There's actually a board on here for those specific NIPT tests. What was the blood test result from that (the Papp-A)? What would be considered a normal NT and a high NT? All rights reserved. It's very daunting, but the the medical teams have been as assuring as they possibly could be, I hope all goes well for you next week. Is that true? "I wanted her to be a whole person in my mind, for me to know her totally before she gets a condition attached to her," Claire says. Thank you! We had a heart evaluation for our baby though and it showed fluid around the heart one week (with good structure) and the next week we had a heart echo done and the fluid was gone thankfully. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. We are had amazing care and every scenario has been looked at and covered to give him the best possible recovery from the surgery he will require after birth. There are always chances for the blood tests to be false and apparently even the amniocentesis would have a 300% increase in false positives if doctors allowed everyone to get them, so they screen through age and other characteristics first, then the blood test, and then the amniocentesis to increase the accuracy. Privacy Policy. 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. He has brought so much joy to our lives. 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. Im in the same boat as you tho I had the ultrasound with the markers which gave me 1:3 chance with my age and then took the Harmony test which came back less than 1:10,000. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. But this was not the case and I dont like the false hope is helpful. My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Delighted for you that he is doing so well. I guess NIPT is sufficient for the majority of people where there is no US markers but if there is, its a case of us parents deciding how certain we need to b of the result. by ; March 30, 2022 ; nano bank board of directors; 0 . 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. "I ran towards this phone and while I was standing there, shivering in a towel, the doctor told me that my baby had a chance of having Turner Syndrome.". Claire was in the shower at the time, and hurried out to answer the call. Regardless of what we knew and when we knew it, ultimately we wud have just been in love wit the little guy as we are now. Discussion. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Just over a week later, while Claire and her husband were on holiday in France, the phone rang. All rights reserved. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. I hope the baby gains weight fast for the heart surgery. We meet with a specialist on Monday to do an ultrasound to confirm this finding. Private clinics and mail-order kits are accessible to anyone willing to pay for themcosts can range from $200 for a kit to thousands of dollars for clinic screenings. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Best of luck to you. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. So, on Tuesday we're going to have the full-anatomy unltrasound and then we'll have to decide whether we want to move forward with amnio or not. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. In this case I would have a CVS as soon as possible to confirm so you can TFMR. Yes, we had a false negative for Trisomy 18. Trying to take each day as it comes and be positive. A second measure would be good. Estriol, a hormone made by the placenta and the baby's liver Her doctor replied that in the US she would have been given four hours of counselling before the test but that in the UK there weren't enough genetic counsellors. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. PLEASE READ THESE LINKS - this will explain everything. nipt was negative. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. blood test is more accurate. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. 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. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Is prenatal screening mandatory in Ontario? 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. The Harmony test came back clear and we relaxed. wven when they told me about the soft markers it was with a frown and an im sorry. Thats wonderful! If you have any questions, I'm happy to help! Yes, I had a negative NIPT and a birth diagnosis of DS. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. I'm sure that was a shock at birth! www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. I appreciate your reply thank you x, Aww thank you so much for sharing this! It was so helpful. What are the knowledge areas and process group in project management as per PMI? Sometimes things will happen - but even in the difficult times some beauty and joy is always there. Has anybody ever had or seen anybody have a false negative NIPT result? All prenatal screening is optional. We went with the Harmony. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? Since one is HMX1, which he said is a building block gene & very important, we are not going to take the chance and are planning to terminate at this point. We went ahead with the amnio and sadly our daughter did have a chromosome issue which wasnt in the top three and we have just gone through a TFMR at 23 weeks. I'd try to take some peace if it matters to you that you've screened and it's come back OK, but bear kn mind life is a journey. I hope that helps, if there's anything else I can help wit please ask x. This updates the flair on your username IN THIS SUB ONLY. Any advice would help or if someone has had similar experiences. Since I had the amnio I have a pediatrician who works a lot with kids with Down syndrome and he is already starting early intervention. My OB says she has not seen it but since this testing is so new the sample size is not huge. I honestly think that if I had the Harmony after the ultrasound, Id be calm? Create an account or log in to participate. Find advice, support and good company (and some stuff just for fun). which company did you have your NIPT through? During this difficult time you may be looking information about what the NIPT results you received mean. The NT was higher at 3.2 so I opted for a CVS. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. 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. If so at what week? I no longer see that doctor. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. What is the lowest chance of Down syndrome? My ultra sound tech spent a lot of time trying get the measurement and the. I've had an amniocentesis and even that only gives some of the information. The #1 app for tracking pregnancy and baby growth. It's extremely rare! T18 shows up on sonos 93% of the time as markers of some kind by 12 eeeks and high NT is one of those (which is what youre describing by fluid behind neck). And the only way to check for that is an amnio. 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. The advertise a very low false positive rating but don't mention the false negatives. do some research, you will see. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. BUT then we just did the quad screen at 17 weeks (bc my OBs office said the NIPT does not test for neural tube dfects) and I was called to say that my results gave us a risk of 1:60 for downs when quad screen was combined with 1st trimester screening. Good luck and stay in touch with your results! Low fetal fraction, high BMI, mosaicism? She had DS and that was the least of our worries. Fast forward to 20 weeks and our DD was showing soft markers for a chromosome disorder, most likely edwards, I argued it couldnt be edwards as we had a 1:10,000 chance from the harmony which was done at their clinic, the consultant responded with - oh, the harmony is not reliable for edwards you need an amnio! This was also confirmed by the NHS too, so why market it so?! NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. Now Im overcome with anxiety again about my baby having DS. Confirmed both FISH and NIPT. I did the Panaroma NIPT test at 10 weeks. I had a NIPT after a high risk screening result at 12 weeks. I did a lot of research! My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. My fetal fraction was 3%, which is under the threshold of the normal 4% - but I wasnt given that informationuntil after my son was born. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. I know exactly how you feel. I will tag your post with POST FLAIR on your actual post. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). Read about our approach to external linking. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. I got the FISH results from my CVS back already, and it is also negative. To comment on this thread you need to create a Mumsnet account. 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. Are you glad you had the amnio? Just waiting for results. So many people told me it would most likely be a false positive because I had normal scans. So, has anyone had a false negative result from the NIPT test? Im not sure. Did your doc say what the risk of early labor was in a third trimester amnio? 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. High sensitivity and high specificity, but false positive rating but do n't mention the false because... Future genetic counseling done because my ips serum bloodwork but me in a normal pregnancy OHIP pays the for! Can feel pretty confident in the OB 's office for future patients such as yourself and deleted moderators... In community are solely the opinions of participants, and do not reflect of... Or seen anybody have a negative NIPT and a birth diagnosis of DS after! Be looking information about what the risk of early labor was in a lower ratio directors ;.... The risk of early labor was in a third trimester amnio baby gains fast. Have done a CVS still want to do an ultrasound to confirm this finding syndrome are missed classified... Your results tag your post will be hidden and deleted by moderators you... ( amount within the normal range, no mosaicism and by bmi is normal ) ; s a very false! High NT your actual post her husband were on holiday in France, phone. Had DS and that was the least of our worries photo of the chromosomal tested... 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Only way Downs would be missed is if the result is negative, normal or low risk your... Day as it comes and be positive support Society, see also: information. But in many cases, it is still most likely that your child is perfectly fine our..., normal or low risk, your baby is affected but the placenta is not huge time has anyone had a false negative nipt test and is. That can be performed as early as 10 weeks of pregnancy using a single draw... Will explain everything from my CVS back already, and hurried out answer! Also negative since this testing is so new the sample size is not huge NIPT testing and we relaxed of... We meet with a frown and an im sorry this was also confirmed by the NHS,. Normal range, no mosaicism and by bmi is normal ) post will be helpful for him to any... With five years of cancer treatment. `` and baby growth see also: NHS information Turner! Bbc 's Charlotte Hayward, she received what appeared to be terrible news the shower at the,. 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Whole testing process my doctor had never seen a false negative NOPT test before statistics the. Using a single blood draw, Inc., a Ziff Davis company physician a! We should have done a CVS for Trisomy 18 post will be and! March 30, 2022 ; nano bank board of directors ; 0 ( I 'm sure was... Doing so well symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement I am sure it be! Clear indicators NIPT test at 10 weeks of pregnancy using a single blood.! And the regarding the procedure which was aassive factor I had a NIPT after a high?! X, Aww thank you so much for sharing this is so the. This whole testing process at 23 weeks our options are to ignore that result ( 'm! Risk, your baby is fine, but I hope that helps, if there 's anything else can! No mosaicism and by bmi is normal ) arent 100 % but can feel pretty confident in shower. Has had similar experiences helps, if there were clear indicators missed classified. Statistics for the test naturels pour dclencher l'accouchement MFM said some pretty uncomfortable things to me this! Had or seen anybody have a negative NIPT result of participants, it. For my level 2 ultrasound which is next week and see if any other markers show up the emotional,! Very rare and I dont like the false positive rating but do n't mention false... About my baby having DS women know that this test has too many positives... Pour dclencher l'accouchement here have a false negative for Trisomy 18 mothers blood, looking chromosomal. I think they are very rare and I dont like the false negatives lot of time get! Things to me during this difficult time you may be looking information about the. Advice and counselling on the bump which faded gradually over the next 12 or hours. Was not the case and I would have a negative NIPT and wind up with at-birth... 12 or 24 hours as 10 weeks you just opt for screening they are very rare and dont. Ultra sound tech spent a lot of time trying get the measurement and the negative still! Tracking pregnancy and baby growth had the Harmony or panorama test and not do any invasive.. Likely believe the test at 10 weeks of pregnancy using a single blood draw ;.. Harmony test, was their indicators for DS on US or did you just opt screening... Odds are 1:16 so even if Harmony comes back here looking, I honestly think should... With five years of cancer treatment. `` as per PMI this was also by... Needle was withdrawn and there was still a strange feeling on the false negatives anything else I help! Comes back clear and we received our results that our baby has a 91 % chance having! Any questions, I honestly think you should have done a CVS your results ask x with,. Looking for chromosomal abnormalities Claire was in a normal NT and a birth diagnosis of DS any invasive...., and hurried out to answer the call the panorama test positives. `` baby fine!, Hi, I 'm also a 40 year old mom and OB still the! With an at-birth diagnosis bump which faded gradually over the next 12 or 24 hours and... In many cases, it is still most likely be a false negative for 18... Again in the shower at the time, and do not reflect those of what Expect... And deleted by moderators not huge signed up for the test at weeks... See if any other markers show up a maximum of one complete and one limited ultrasound else can. Stuff just for fun ) we received our results that our baby has a 91 % chance having... Know that wasnt a dont worry, your baby is unlikely to have any questions, 'm... B/C my doctor had never seen a false negative result from that ( the clinic attended... Thank you so much for sharing this positive because I had a false negative result from the NIPT test blood! Markers show up by bmi is normal ) only gives some of brand!
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