I feel like it's creeping up on me again. Can NIPT tests be wrong? "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. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). I contacted a genetic consultant to find out the reason, but for now there is no answer. Note that once you confirm, this action cannot be undone. Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. Update from my end. i know, im just saying people with ds are healthy! In your case, this is less likely since there were issues seen on ultrasound. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. 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. I guess my concern is that really only an amino can give you a conclusive answer. You know that. 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. Thank you for sharing this. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. You will see this come up in posts across this sub. 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. Or what would be the normal range ? MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. I do wonder at their claim of 99% pick up of DS, when from what I'm reading 4% of DS are translocations, there is also the possibility of mosaic DS being missed. 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. 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. 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 can't wait to meet our girl! I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. "And besides, we are from strong Yorkshire stock. I felt a little sore on the spot for a few hours, nothing much, and once about 24 hours had passed I was relieved it was done and we would know for sure. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. I live in Canada, and did Panorama by LifeLabs. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. The NT was higher at 3.2 so I opted for a CVS. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. Who was Ukrainian minister Denys Monastyrsky? Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. Good luck! I am 22 and currently 13w, this is our first pregnancy. I have heard that the quad,triple, etc screen come back with lots of false positives. 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. ", Analysis by Robert Cuffe, BBC News head of statistics. My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. We use cookies to ensure that we give you the best experience on our website. Those first and second trimester screenings are evil in my opinion. I also agree about people and doctors and how they view DS. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. She shows no symptoms of Turner Syndrome. "There is an ideology in the private sector that the more the better," he says. 2005-2023Everyday Health, Inc., a Ziff Davis company. The BBC is not responsible for the content of external sites. FISH results after she . We have been heartbroken for the past 48 hours after hearing this diagnosis. 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. I wish I had done more research and spoken to more people as we should have done a CVS. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. 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. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. A negative NIPT equates to roughly a 1 in 70,000 chance. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. Hey there, my daughter was born with a duodenal atresia. Unlike the NT test which has many shortcomings. We had several soft markers for one of my twin girls, so I looked high and low for anything that would assure me that it didnt mean much. First time pregnancy here.Im 32 years old living in Canada. yes same here. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. "The thought that I could have terminated this pregnancy, that it crossed my mind to terminate, that is" she says, pausing to find the right words. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. The other thing to keep in mind is that none of this is an exact science. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Any advice would help or if someone has had similar experiences. Inhibin A, another hormone made by the placenta - my inhibin A was very high this is why they think I got such a high result. During this difficult time you may be looking information about what the NIPT results you received mean. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. 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. that was as of last Monday. Baby has mosaic DS. This limit does not apply to high risk pregnancies. In this case I would have a CVS as soon as possible to confirm so you can TFMR. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. How do I reset my brother hl 2130 drum unit? Thanks, that is really interesting about the mosaic DS. This post is meant as a welcome and quick information / resources to those who have just found this sub. 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. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. i hope you have a healthy rest of your pregnancy! I hope you are doing okay! My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. "It's just so important that women know that this test has too many false positives.". If they told me the test was high risk I wouldve grieved for awhile but I am well aware what a blessing DS children are and it wouldnt have changed our outcome in any way. 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. During this difficult time you may be looking information about what the NIPT results you received mean. Lol. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. Hey there, thank you for visiting the sub. 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 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. 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). outlined a number of areas where it has concerns, Contact the Turner Syndrome Support Society, Maximum two drinks a week, Canada guidance advises, US porn star declared unfit for sex crimes trial, Netflix offers $385,000 for private jet attendant, 15 minutes to defend yourself against the death penalty, Polar bear kills woman and boy in Alaska village, Prankster disrupts FA Cup coverage with sex noises, Baby among six killed in possible cartel hit in US, Celebrities who say their children will get no inheritance, World's oldest person, Sister Andr, dies aged 118. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). If the sonos are normal I always ask people wait for an amnio. Is there room to get my hopes up based off of my age? Can I be 2 months pregnant and have a negative test? Estriol, a hormone made by the placenta and the baby's liver Has anyone had a false negative NIPT test? A test result can sound like a near certain diagnosis when the test says it's 95% accurate. I hope that helps, if there's anything else I can help wit please ask x. I completely understand about the anxiety it may have caused. 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. Mariegol, why were you given a 1:32 chance? She is small, but there are short genes in the family. I think they are very rare and I would less likely believe the test if there were clear indicators. Did your doc say what the risk of early labor was in a third trimester amnio? If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). Note: I see I am supposed to add flair but it won't let me. To aid in all of this and to cut down on surprises in the delivery room (code: potential lawsuits), they also identified various physical characteristics that are more common among those with certain chromosomal abnormalities. My husband I are in total agreement and would go for an amino if the harmony test is positive. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. - BabyCenter Canada our test came back negative across the board. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. I started saving them if you are interested I can send them to you. Is prenatal screening mandatory in Ontario? The Papp-A came back normal. 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. Firstly thank you so much for your reply, I appreciate it so much! I did the Panaroma NIPT test at 10 weeks. Cookie Notice 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. the measurement came back at 1.5.. Normal! X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Definitely clicked this post because I wanted to know what 'nips' testing was . We go through life and any manner of things can crop up down the line. False positives are waaaay more common. thats brilliant, some mosaic kids have very little issues. Use of this site is subject to our terms of use and privacy policy. I'm waiting for the results, but so confused. Can you share what your third trimester amniocentesis was like? 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. 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 NIPT test is highly accurate at detecting DS but no test is 100%. i did the materniT genome test and was told it was 86% accurate. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. 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. This is where we found out it was a mosaic diagnosis for T21. This message is automatically generated for all submissions and might sometimes get it wrong. Claire was in the shower at the time, and hurried out to answer the call. I had similar results to you but OB recommended against amnio or CVS, so I didn't. They recommended I do the CVS, which I did that same day. I know of a family who had a false negative. Low fetal fraction, high BMI, mosaicism? So on balance for the whole population they can seem rare. They are testing my husband now. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) So I'll try to repeat what we were told. 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. I appreciate your reply thank you x, Aww thank you so much for sharing this! 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. It has also caused me alot of anxiety. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. But my NT was elevated at 3.3. I have seen so many false positives. Please feel free to reach out if you need to vent, ask more questions or need more resources. Yes, it is possible. Yes, I had a negative NIPT and a birth diagnosis of DS. Best of luck! Full karyotype came back. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. 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. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. Im 13w and 3 days. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. Do you know which nipt test it was and did they have any ultrasound markers? In response to the increasing availability of the NIPT test, England's Care Quality Commission started carrying out inspections of clinics and hospitals in England - Health Improvement Scotland has also said it currently regulates two services which offer pre-natal testing, In a statement, the CQC says: "We expect providers of NIPTs to ensure that women fully understand the procedure, know that it is not a diagnostic test, are informed about the possible outcomes, and that appropriate support is made available when delivering the test results. The NIPT test is highly accurate at detecting DS but no test is 100%. thank you:) he is doing really well! Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. Excellent NT Scan, Positive Blood Results. I am 24 weeks today, so I do feel like its late to do the amnio. I'm thinking of asking for a NT remeasure. What was your NT like? Getting a negative from the NIPT test does not mean that you are safe. 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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Waiting on our CVS results we did Friday. 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. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. 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. 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.
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