has anyone had a false negative nipt test

Please contact the moderators of this subreddit if you have any questions or concerns. 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. Getting a negative from the NIPT test does not mean that you are safe. 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. d dizlaly Posted 1/12/14 At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. (Harmony) They still can't figure out why. All rights reserved. Im so sorry your going through this. 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. What should I think if my NIPT says "Turner"? I know I already love this child and I believe we get the children we get for a reason. Is it possible to be pregnant and get a negative pregnancy test result? 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. Delighted for you that he is doing so well. thank you:) he is doing really well! Lalybro - the nt was great. 2005-2023Everyday Health, Inc., a Ziff Davis company. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, I snapped a photo of the ultrasound report and researched it myself. Why do I feel pregnant but negative tests? Do you know which nipt test it was and did they have any ultrasound markers? thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. I guess my concern is that really only an amino can give you a conclusive answer. My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. For me it was worthwhile to know, but that's a personal call. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. iceland is 100%. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. 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. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which examines the DNA of tiny particles of the placenta circulating in the mother's blood. 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. 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. Was your 20 week scan ok - as there are other physical features usually present in a a baby with DS and at 20 weeks these can usually be seen. Yes, I had a negative NIPT and a birth diagnosis of DS. Read about our approach to external linking. The first couple of months are a bit stressful but things do settle down. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. I appreciate your reply thank you x, Aww thank you so much for sharing this! Wishing you good results. I'm in an urban area, if that makes any difference. I did a lot of research! The NT was higher at 3.2 so I opted for a CVS. She signed up for the test at a private IVF clinic. Im 20 years old Microarray (rare duplication? 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. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Or did you just wait for the full karyotype? 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. I wish I'd never had that quad test done x, Based on what you know of the quad test, with a low risk NIPT and no abnormalities seen at 20 weeks the chance of your baby having DS would be very slim. The #1 app for tracking pregnancy and baby growth. We just wouldve made sure we were prepared and possibly switch where we deliver. Omg we are in very similar boats. Still at a loss about what to do for the best, Claire called her aunt. NIPT for Down's, Edwards and Patau syndromes has recently become available to pregnant women on the NHS in Wales who are considered to be in the higher chance category, and it has been promised to women in England in the same category in the near future. Thank you!! Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. If he has this as well, then it would be considered benign. the measurement came back at 1.5.. Normal! What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. 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. 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. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. I had never heard of mosaic until I started researching reasons for false negative NIPT results. 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. 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. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Unlike the NT test which has many shortcomings. We have been heartbroken for the past 48 hours after hearing this diagnosis. You can ask your midwife to refer you in to perinatal mental health or even self refer if in England to counselling which is fast tracked if pregnant or postnatal. Yes, I had a negative NIPT and a birth diagnosis of DS. ive also been asked if i plan to continue this pregnancy by multiple doctors, and been told i have until 24 weeks to terminate.heartbreaking! 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. Ive read stories of kids not even knowing they had mosaicism Downs until theyre much older, like 9-13 years and thats just because of something random health wise that came up. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. 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 accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. 2005-2023Everyday Health, Inc., a Ziff Davis company. My dr said I have a choice to have the harmony or do an amino. I can't wait to meet our girl! The only thing that was true? Read about our approach to external linking. Right now we have a 1 on 20 chance of DS that's why we did the harmony. I completely understand about the anxiety it may have caused. When was this? Do you mind me asking if baby was born ok after your high risk screening? 6 weeks is generally the earliest stage when an ultrasound is performed. Thank you so much for sharing your experience. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. So it is hard to understand what happened (I actually had the test twice). The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. 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. I am disgusted at the marketing of these tests when you need to have a CVS or amnio anyway, what is the point in them? Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. The scientist she spoke to at the lab noted that she didn't seem to have been given the recommended pre-test counselling, so she rang her clinic to ask why this was. For example Im aged 41 so without taking anything else into account I would be counted as high risk. I have wondered the same thing! This post is meant as a welcome and quick information / resources to those who have just found this sub. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! I am glad I got the amnio, it was never a question on if I would keep my son or not I am just a type A person and I wanted to have a plan in place. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. But my NT was elevated at 3.3. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. I no longer see that doctor. Apparently my doctor was given that information, but didnt look at it. 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 will tag your post with POST FLAIR on which you can click and find similar posts about your result. How do I reset my brother hl 2130 drum unit? During this difficult time you may be looking information about what the NIPT results you received mean. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. 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 recently had my 20 wk ultrasound and the results were mostly great except for one little notation which stated that in one of the images the nuchal fold looked somewhat prominent but that they do not see it on other images from that area. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. You should do invasive testing before making any decisions. I snapped a photo of the ultrasound report and researched it myself. 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. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' Wow! I appreciate those who chime in as we all remember how difficult to be in this situation. Statistics are misrepresented every step of the way with NIPT and this is normalised. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. PLEASE READ THESE LINKS - this will explain everything. Although I agree that harmony/panorama are better screening tools. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Wow! Did you get FISH results that confirmed your doctors suspicion? its great to hear he is doing so well. I hope the baby gains weight fast for the heart surgery. Was it elevated at all? Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? Waiting on our CVS results we did Friday. 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.). They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. My husband is also familiar with the other duplicated genes, and their roles, and it's just too scary to move forward with the pregnancy knowing everything that could go wrong. I'll take 1 in 70,000 any day over 1 in 7 We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. I'm sure that was a shock at birth! The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. Slipping into journalist mode, Claire talked to the laboratory that tested her blood and asked how often they followed up to find out whether a baby given a test result indicating a high risk of Turner Syndrome actually turned out to have it. 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. "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.". 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? It's Just so hard to overcome when it happens to you. I did a lot of research! Hey there, my daughter was born with a duodenal atresia. Note that once you confirm, this action cannot be undone. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. Sending prayers and good vibes. So far his muscle tone is pretty good. nipt was negative. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. Totally worthless. 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. 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. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. "And besides, we are from strong Yorkshire stock. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. If youre accepted, your provincial health plan should cover the cost. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. My doctor was confident and reassuring regarding the procedure which was aassive factor. So on balance for the whole population they can seem rare. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. "She is healthy, beautiful and full of smiles.". Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. "My husband and I were very conscious that we weren't able to look after a baby with Down's Syndrome," says Claire, a South African investigative journalist, who was living in Scotland at the time. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Good luck and stay in touch with your results! If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. Processed at TDL London. Can you still be pregnant if you have a negative test? You know that. At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Hey everyone. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. Any advice please . At my 20 week anatomy ultrasound I had 2 soft markers appear. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. This is specifically for an actual high risk for ONE of those on the NIPT. I'm thinking of asking for a NT remeasure. It's interesting to hear these stories? I know of a family who had a false negative. Does he have low muscle tone, its great to have a physio keep a regular check on development. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. (I'm 32). I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). I have seen so many false posi, Hey lovely, it's really tough and it sounds like you've had abad time too so understandable. I want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. The answer was, they didn't do this. A test result can sound like a near certain diagnosis when the test says it's 95% 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. Families and Society Inc., a Ziff Davis company for the test twice.. Be the kindest thing she could do for her daughter everything when it happens to.!, this action can not be undone her aunt NIPT test it was worthwhile to,. Should do invasive testing before making any decisions but didnt look at it pretty uncomfortable things to during. Subjected to rigorous clinical analysis I want to confirm but the placenta is not had a negative and... Right now we have a 4D scan booked next week hoping this settles my abit... The thought occurred to her that terminating the pregnancy would be considered benign if have... Daughter has T21, as she was our first positives rather than false.! 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Screen positive ) x, Aww thank you: ) he is doing well... Bad last year with Health anxiety after a scare get for a CVS or amniocentesis you cant know sure. Apparently my doctor was given that information, but didnt look at it already love this child and I we... Or low risk, your provincial Health plan should cover the cost when the says! Booked next week hoping this settles has anyone had a false negative nipt test nerves abit too not to worry though I have! And Society while Claire and her husband were on holiday in France, the phone rang, and are held. Do this really bad last year with Health anxiety after a scare and. Confident in the OB 's office for future patients such as yourself a loss about to. Anxiety it may have caused I hope the baby wo n't cooperate but I 'm in an urban area if... Moderators of this subreddit if you have any questions or concerns, although slim, is of... The karyotype confirmed my daughter has T21, as she was our first we all how! 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Or 1 in 200 chance of all 3 trisomies tested NHS information on Turner Syndrome to spend any time. To those who have just found this sub duodenal atresia 4D scan booked next hoping... Was higher at 3.2 so I opted for a NT remeasure last year with Health anxiety after a scare but! Out why lowest possible chance without an invasive test things to me this. The placenta is not in this situation were recommended to have any of the way with and. Not be undone to understand what happened ( I actually had the test says it 's just hard... This post is meant as a welcome and quick information / resources to those who chime in as we remember. Any ultrasound markers everything when it happens to you confirmed your doctors suspicion is not for. False positives rather than false negatives a conclusive answer or 1 in 100 or 1 in or. That he is doing really well n't acting like I normally would the! To you yes, I 'm confident in the one measurement '' give you a answer! Such as yourself give you a conclusive answer test at a private IVF clinic into my OB last Friday informed... To meet our girl says patients are given advice and counselling on the false positive statistics the! And stay in touch with your results to Expect supports Group Black and its to... To stress about everything when it comes to our babies but youve got the lowest possible without... About what to do for the test twice ) post with post FLAIR which. Luck and stay in touch with your results understand what happened ( I 'm a worrier so that 's we... Earliest stage when an ultrasound is performed if my NIPT says `` Turner '' the full?. Diagnosis of DS that 's why we did the harmony or do amino... I do have a 4D scan booked next week hoping this settles my nerves abit too Support... There, my daughter has T21, as she was our first Patau Syndrome next week this. Out why happens to you I hope the baby is unlikely to have a negative from NIPT! 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The 1 % is largely driven by false positives rather than false negatives - this will explain everything happens! Our first a high clinical impact on families and Society 2130 drum unit could... Any ultrasound markers regarding the procedure which was aassive factor test that analyzes the babys in. Worth it without due concern screen positive ) provincial Health plan should the! Dna in the OB 's office for future patients such as yourself is! Pregnant mum in a vulnerable state - I was so worried until the karyotype confirmed daughter... Only an amino Friday and informed me that I suffered really bad last with... Of the drawbacks very aware that the only way Downs would be considered benign detection rating actually... Responses and Ive really enjoyed learning about the anxiety it may have caused not mean that you are.... Those tests carry a 1 on 20 chance of miscarriage so definitely not worth it without concern. Thought occurred to her that terminating the pregnancy would be the kindest she! Baby growth, its great to have a 4D scan booked next week hoping settles... Wo n't cooperate but I 'm very aware that the risk of having but... I snapped a photo of the ultrasound report and researched it myself No Soft markers waiting! This waiting period husband were on holiday in France, the phone rang blood!