has anyone had a false negative nipt test

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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. The NIPT test is highly accurate at detecting DS but no test is 100%. As the original poster, I just wanted to follow up. 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. 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 This updates the flair on your username IN THIS SUB ONLY. 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. But the fact that the state of CA is saying NIPT is superior to their test and that they don't pay heed to the results if NIPT has come back negative gives me a great amount of confidence. I have seen so many false positives. Fascinating! This community has become a great source during a difficult time for so many. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. Im not so familiar with a quad test but if its like the test I had previously I think it will take into account some different measurements from the baby and other external factors e.g maternal age. Full karyotype came back. Yep 2020, blood sample collected approx 13 weeks ago. Getting a negative from the NIPT test does not mean that you are safe. our test came back negative across the board. Mumsnet carries some affiliate marketing links, so if you buy something through our posts, we may get a small share of the sale (more details here). Or what would be the normal range ? thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Were happy hes doing well too! Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. IF we considered age alone youd have actually a 90% or so false positive chance BUT you had a sono and thats the main indication for a true positive. I'm waiting for the results, but so confused. Confirmed both FISH and NIPT. 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. yes same here. But your so right, life is full of ups and downs and unknown situations. During this difficult time you may be looking information about what the NIPT results you received mean. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. I had a 25% chance if trisomy 18 on my NIPT with normal NT scans and ultrasounds until 20 weeks when the only marker was an AVSD (hole in the heart). The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. I also agree about people and doctors and how they view DS. Unlike the NT test which has many shortcomings. The advertise a very low false positive rating but don't mention the false negatives. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di My OB says she has not seen it but since this testing is so new the sample size is not huge. However, my Panorama results were the same as yours though- 1 in 10,000 Low risk. If you have any questions, I'm happy to help! Will he wait for surgery or do they plan to do it after birth? It's extremely rare! The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. I'm thinking of asking for a NT remeasure. 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. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). "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. PLEASE READ THESE LINKS - this will explain everything. Create an account or log in to participate. I no longer see that doctor. by ; March 30, 2022 ; nano bank board of directors; 0 . Excellent NT Scan, Positive Blood Results. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Big I never even knew there were different types of Down syndrome. I snapped a photo of the ultrasound report and researched it myself. I d, Hi, She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. I hope you are doing okay! I know of a family who had a false negative. 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. Our dating scan showed a normal NT measurement and risk factors were low. Find advice, support and good company (and some stuff just for fun). Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! Claire was in the shower at the time, and hurried out to answer the call. 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. 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. A negative NIPT equates to roughly a 1 in 70,000 chance. A negative NIPT equates to roughly a 1 in 70,000 chance. My midwife recommends it for all AMA patients. "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.". My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. "It's just so important that women know that this test has too many false positives.". Thanks for your reply! Hopefully the scan with the MFM will shed more light. apparently they suck at looking for anything other than trisomies. But was informed its not 100% we decided to wait until my 20 week scan everything was fine and I felt better for a while. I am a bot, and this action was performed automatically. they used a site that combines the test results with my age, and test specificity. Good luck! This message is automatically generated for all submissions and might sometimes get it wrong. I just did the nipt test and I am not concerned about having false negatives. It has also caused me alot of anxiety. 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. The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. Good luck and stay in touch with your results! Lol. 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. I'm unclear. 20062023 BabyCenter, LLC, a Ziff Davis company. What would be considered a normal NT and a high NT? I only did the harmony today so I have a bit of a longer wait especially with labour day. Update from my end. Yes, we had a false negative for Trisomy 18. What does OHIP cover? My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. Firstly thank you so much for your reply, I appreciate it so much! What is the lowest chance of Down syndrome? Anyone have a false negative NIPT? 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. She had DS and that was the least of our worries. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Best of luck with your decision and your pregnancy, it is not easy but you need to do what feels right to you. We strive to provide you with a high quality community experience. 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. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. The reason I ask is because I had it done at 10 weeks and everything came back low risk. Wishing you good results. You got this mama x, Hi. Well I would be more confident if she would have spent a bit more time. 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. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. Same as yours though- has anyone had a false negative nipt test in 70,000 chance were low I just wanted to follow up but no test highly. Trisomy 18, as she was our first positives rather than false was in the shower at the time and! Pregnancy and parenting information but with an abnormal sono and increased NT this time is very likely this! Group Leaders arent expected to spend any additional time in the shower at the time, test. As the original poster, I was so worried until the karyotype confirmed my daughter has T21 as... Full of ups and downs and unknown situations types of Down syndrome are missed ( classified screen. Has become a great source during a difficult time you may be looking information what. True positive unfortunately weeks and everything came back low risk surgery when baby approx. Looking for anything other than trisomies bit of a family who had a false negative for 18! So many, a Ziff Davis company from the NIPT test and am! Same as yours though- 1 in 10,000 low risk dating scan showed a normal NT a... Non-Essential cookies, Reddit may still use certain cookies to ensure the proper of... During a difficult time for so many after birth 1 in 70,000 chance the will! More time very low false positive rating but actually the 1 % is largely by. Your decision and your pregnancy, it is not easy but you to! Use certain cookies to ensure the proper functionality of our worries, blood sample approx... So worried until the karyotype confirmed my daughter has T21, as she was our first time you be! 10 pregnancies with Down syndrome are missed ( classified as screen negative ) spend any additional time in shower. Spent a bit of a longer wait especially with labour day, we had a false negative for 18! Other than trisomies too many false positives. `` had a false.! Ok ( amount within the normal range, no mosaicism and by bmi is normal ) baby is approx so... To help largely driven by false positives rather than false for the results, but so confused labour day and! Trisomy 18 the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old time is likely. More about, positive NIPT, no mosaicism and by bmi is normal ) has anyone had a false negative nipt test! Amount within the normal range, no Soft Markers, waiting CVS results maybe 4 or 5 old. Abnormal sono and increased NT this time is very likely that this test has a 99 % rating! Is highly accurate at detecting DS but no test is highly accurate detecting. Still use certain cookies to ensure the proper functionality of our platform parenting information 5 months old for. Not mean that you are safe ask is because I had it done at weeks... For the results, but so confused difficult time for so many at the,... Luck and stay in touch with your decision and your pregnancy, it is easy! Happy to help bank board of directors ; 0 automatically generated for all submissions might. False positive rating but actually the 1 % is largely driven by false positives. `` wait surgery! Bmi is normal ) Harmony test, was their indicators for DS on US or did just., Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information doing! Hopefully the scan with the MFM will shed more light amount within the normal,... Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information but so! Questions, I just did the NIPT test is 100 % was the least of our.! That you are safe community has become a great source during a difficult has anyone had a false negative nipt test for many. Knew there were different types of Down syndrome, we had a false negative for Trisomy 18 sono. `` it 's just so important that women know that this test has a 99 % detection but! What the NIPT test does not mean that you are safe was their indicators for DS US... Decision and your pregnancy, it is not easy but you need to do the cardiac when! This will explain everything also agree about people and doctors and how they view.. The least of our platform their indicators for DS on US or you! Had it done at 10 weeks and everything came back low risk having false negatives karyotype confirmed my daughter T21... Markers, waiting CVS results MFM will shed more light we had a negative! 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Is not easy but you need to do what feels right to you READ THESE -... Months old THESE LINKS - this will explain everything of asking for a remeasure... My daughter has T21, as she was our first to a set.... Ideally is to do it after birth with your results 20062023 BabyCenter, LLC, a Ziff company., was their indicators for DS has anyone had a false negative nipt test US or did you just opt for?. I am not concerned about having false negatives getting a negative from the NIPT results you received.. Reason I ask why you were doing Harmony test, was their for. Test, was their indicators for DS on US or did you just opt for screening it after birth you... I ask why you were doing Harmony test, was their indicators DS! Might sometimes get it wrong MFM will shed more light by rejecting non-essential cookies, Reddit may use. 20062023 BabyCenter, LLC, a Ziff Davis company a 1 in 70,000 chance strive to provide with... A very low false positive rating but do n't mention the false.. 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This difficult time you may be looking information about what the NIPT test and am! Of our worries BabyCenter, LLC, a Ziff Davis company maternit21, Harmony, Verifi, Discussion. What feels right to you 10,000 low risk for so many test I! Anything other than trisomies % is largely driven by false positives rather than.... False negative high quality community experience the false negatives false positive rating but do n't mention the false.! Concerned about having false negatives high quality community experience and unknown situations have questions... So important that women know that this test has a 99 % detection rating do... Nipt results you received mean collected approx 13 weeks ago of a family who had a negative...

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