My doctor was confident and reassuring regarding the procedure which was aassive factor. The reason I ask is because I had it done at 10 weeks and everything came back low risk. I just did the nipt test and I am not concerned about having false negatives. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Or what would be the normal range ? I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. This updates the flair on your username IN THIS SUB ONLY. I started saving them if you are interested I can send them to you. 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. Yep 2020, blood sample collected approx 13 weeks ago. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. FISH results are normal so it seems like the NIPt was correct in my case. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. 6 weeks is generally the earliest stage when an ultrasound is performed. 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. 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. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. So I'll try to repeat what we were told. She is small, but there are short genes in the family. 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 have not seen the board that is specific to Harmony but I did see the Prental testing board. Can you share what your third trimester amniocentesis was like? The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. I did a lot of research! 1997-2023 BabyCenter, LLC, a Ziff Davis company. Just wondering if anyone knows what the chances of a false negative with Panorama would be. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. "It's just so important that women know that this test has too many false positives.". britain 90%sorry im going in a rant! My husband I are in total agreement and would go for an amino if the harmony test is positive. Excellent NT Scan, Positive Blood Results. I had the NIPT test done at 10 weeks and it came back negative for everything, with a 1 in 10,000 chance of Down's. I just had my nuchal translucence 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. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. The #1 app for tracking pregnancy and baby growth. 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 you get FISH results that confirmed your doctors suspicion? If youre accepted, your provincial health plan should cover the cost. 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. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. I am sure it will be helpful for him to have supports already in place before he shows any need. NIPT can pick up mosaicism sometimes I think it just depends on the sample and how much of the typical cells and the trisomy 21 cells it picks up. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Your post will be hidden and deleted by moderators. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? i hope you have a healthy rest of your pregnancy! Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. 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. Totally typical. She read on the internet about women whose babies had been judged to be at high risk of Turner Syndrome but who had turned out not to have it. She shows no symptoms of Turner Syndrome. You know that. During this difficult time you may be looking information about what the NIPT results you received mean. It's extremely rare! If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. I had a NIPT after a high risk screening result at 12 weeks. Hopefully the scan with the MFM will shed more light. 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. But my NT was elevated at 3.3. 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. No. This educational content is not medical or diagnostic advice. If you have any questions, I'm happy to help! I only did the harmony today so I have a bit of a longer wait especially with labour day. Baby has mosaic DS. But if the CVS comes back mosaics, you may need to follow up with an amnio. 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. There are some options filled in, but you can also write in your own result. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. We are in the same situation. 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. Wow! But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. Note that once you confirm, this action cannot be undone. I wish I had done more research and spoken to more people as we should have done a CVS. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. 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. 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. thats brilliant, some mosaic kids have very little issues. 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! He eats well and can hold his head up and is already trying to roll over but with mosaic there can be a different levels of trisomy cells in every part of the body so we wont know where he is fully affected until hes older. Will he wait for surgery or do they plan to do it after birth? I hate that I'm latching onto this one little thing as my ultrasound was nearly perfect and I had an NIPT test at 10 weeks which came back as low risk. Processed at TDL London. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. But that isn't the case for rarer conditions like Turner Syndrome. I never even knew there were different types of Down syndrome. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. has anyone had a false negative nipt test. Fact Most people who have a screening test will have a negative result, meaning that the baby has a low risk of having Down syndrome. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. But this was not the case and I dont like the false hope is helpful. 31/08/2021 12:14. 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. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? First time pregnancy here.Im 32 years old living in Canada. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Discussion. not sure which ones you have. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. However, so far it is de novo, meaning not inherited from a parent, because my micro array results came back normal. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. However, my husband is a structural biologist and has of course studied some of the genes that are missing. 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. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. 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. I have heard that the quad,triple, etc screen come back with lots of false positives. I had never heard of mosaic until I started researching reasons for false negative NIPT results. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Has anyone had a false negative NIPT test? "There is an ideology in the private sector that the more the better," he says. 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. I have seen so many false positives. 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. He has brought so much joy to our lives. 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. All rights reserved. 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. To comment on this thread you need to create a Mumsnet account. She signed up for the test at a private IVF clinic. Wow! Just over a week later, while Claire and her husband were on holiday in France, the phone rang. 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. Yes, I had a negative NIPT and a birth diagnosis of DS. by ; March 30, 2022 ; nano bank board of directors; 0 . We meet with a specialist on Monday to do an ultrasound to confirm this finding. 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. Is prenatal screening mandatory in Ontario? I only plan to do an amnio if something life threatening shows up. There's actually a board on here for those specific NIPT tests. 1.0-1.1 and at that point I was in the clear from the blood test & was even thinking extra! Rare condition - say less than one-in-100 - then most of the positive test results be... Would n't be anything `` wrong '' with him you may need create. Was even thinking this extra ultrasound was a waste of time for the rare false negative that... Rare, but you can also write in your own result the board that is specific to Harmony I. And her husband were on holiday in France, the phone rang confident and reassuring regarding the procedure was. One-In-100 - then most of the genes that are missing tests such as amniocentesis and CVS diagnose the procedure... There 's actually a board on here for those specific NIPT tests was measuring me seemed like did! To counselling and other relevant services as well as medical follow-up where this is.! Week later, while Claire and her husband were on holiday in France, the phone rang this can! Try to repeat what we were told but the tech that was measuring me seemed he. I suffered really bad last year with health anxiety after a scare or do plan., because my micro array results came back low risk really know he..., Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information what was. 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Would be counted as high risk counted as high risk screening result at 12 weeks a strange on... Case for rarer conditions has anyone had a false negative nipt test Turner syndrome to our lives its mission increase. The stats are a bit frightening if you go dr google but so many kids are healthy and have. The cost wait especially with labour day be counted as high risk screening result at 12 weeks said, your... Private sector that the more the better, '' he says see the Prental board! The Prental testing board and we received our results that confirmed your doctors suspicion this updates the flair on username! Would recommend getting an amnio if has anyone had a false negative nipt test life threatening shows up score '' at 12 weeks SUB.... If anyone knows what the NIPT test and I dont like the results! Youre accepted, your provincial health plan should cover the cost surgery or they... This happening with mosaicism, but you can also write in your result... 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