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. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, I need to take control and stay positive! i hate the way society views ds. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. The Harmony test came back clear and we relaxed. The answer was, they didn't do this. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. 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. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. 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. If he has this as well, then it would be considered benign. 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?! My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. I'll take 1 in 70,000 any day over 1 in 7 False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Although I agree that harmony/panorama are better screening tools. I'm waiting for the results, but so confused. Has anyone had negative results on their NIPT test everything normal but had a bad anatomy ultrasound at 20 weeks I'm scared they say my babies hands are clutched and they can't see he's toes and 2 spots that are dilated on this brain! I had a NIPT after a high risk screening result at 12 weeks. The reason I ask is because I had it done at 10 weeks and everything came back low risk. He has brought so much joy to our lives. 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. 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. 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. Thank you for sharing this. Our son just turned 1 and hes doing fantastic!!! Create an account to follow your favorite communities and start taking part in conversations. I would try not to worry about it (I know thats easier said than done). 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. Mariegol, why were you given a 1:32 chance? Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? 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. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. ", Analysis by Robert Cuffe, BBC News head of statistics. If the sonos are normal I always ask people wait for an amnio. They just called it aNIPT, it was done by Progenity. 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. Can you still be pregnant if you have a negative test? Or did you just wait for the full karyotype? i did the materniT genome test and was told it was 86% accurate. I have seen so many false positives. She shows no symptoms of Turner Syndrome. All rights reserved. I hope that helps, if there's anything else I can help wit please ask x. Excellent NT Scan, Positive Blood Results. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. and the stats are so upsetting to me too.70% of americans that find out their baby will have ds terminatei truly think its bc of the way the doctors deliver that news, basicalky offering an abortion in the same breath. I understand its a very accurate test, but not 100%. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. 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. 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. My doctor was confident and reassuring regarding the procedure which was aassive factor. 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. Best of luck! I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. The #1 app for tracking pregnancy and baby growth. blood test is more accurate. "It had worked with the first embryo.". My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". I had never heard of mosaic until I started researching reasons for false negative NIPT results. Hey there Im so sorry youre here. False positives are waaaay more common. Good luck! Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? I snapped a photo of the ultrasound report and researched it myself. Harmony is what I took! 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/. If youre still worried, go for the amnio. Wishing you good results. Did you end up doing an amino? "And besides, we are from strong Yorkshire stock. 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. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. 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. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Yes, we had a false negative for Trisomy 18. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. It's extremely rare! I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Has anyone had a false positive with this test? THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. However, my husband is a structural biologist and has of course studied some of the genes that are missing. The #1 app for tracking pregnancy and baby growth. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. 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. 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. 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. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. Was it bc of a blood test or the NT or age? Note: I see I am supposed to add flair but it won't let me. Does he have low muscle tone, its great to have a physio keep a regular check on development. This updates the flair on your username IN THIS SUB ONLY. Those first and second trimester screenings are evil in my opinion. 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. Note that once you confirm, this action cannot be undone. "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.". 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. 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. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". 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. In my specific situation, however, our Panorama test came back with a 7/10 chance for one twin to have DS and this was correct. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? Please add flair to your username with your NIPT result so others can easily see your history when you comment. Interesting! I am 24 weeks today, so I do feel like its late to do the amnio. 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. Thats wonderful! 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. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. has anyone had a false negative nipt test. I was told the accuracy of the test is 99.9% or something like that. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. I did a lot of research! It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Still at a loss about what to do for the best, Claire called her aunt. False negative cases have rarely been reported. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. The #1 app for tracking pregnancy and baby growth. 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. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Did your doc say what the risk of early labor was in a third trimester amnio? Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. Did you get FISH results that confirmed your doctors suspicion? Discussion. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. During this difficult time you may be looking information about what the NIPT results you received mean. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). our test came back negative across the board. 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