Yes, I had a negative NIPT and a birth diagnosis of DS. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. But this was not the case and I dont like the false hope is helpful. To comment on this thread you need to create a Mumsnet account. 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. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. My ultra sound tech spent a lot of time trying get the measurement and the. We went with the Harmony. It was Harmony, no issue with fetal fraction/BMI etc. @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. Mariegol, why were you given a 1:32 chance? If you continue to use this site we will assume that you are happy with it. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. its great to hear he is doing so well. I am 22 and currently 13w, this is our first pregnancy. "It's just so important that women know that this test has too many false positives.". 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. This message is automatically generated for all submissions and might sometimes get it wrong. I agree with you that in a way I think I would be more confident with an amino but it does carry more risk especially if our babies are healthy and our screening tools just aren't that great. Definitely clicked this post because I wanted to know what 'nips' testing was . I know of a family who had a false negative. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. I know, when I first found out I went to google and it was terrifying. It's a hard call, a very individual decision too depending on what the information means for you. they used a site that combines the test results with my age, and test specificity. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Use of this site is subject to our terms of use and privacy policy. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. False positives are waaaay more common. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. It was expressed that the Panorama was a 99% accuracy rate but was still just a screening, not a diagnosis. Did any take both tests? Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. I would say with a negative test and no strong markers you should be fine getting a define test sounds like it will put your mind at ease and let you enjoy your pregnancy. If it was me I wouldnt chose to have amino or cvs once nipt is negative due to the miscarriage risk and the high accuracy of nipt xx, Hey lovely, it's really tough and it sounds like you've had abad time . Lol. Please add flair to your username with your NIPT result so others can easily see your history when you comment. - BabyCenter Canada Im 20 years old Microarray (rare duplication? Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? Interesting! I didnt know to ask about that and figured I would be retested if it was low. Meaning, has anyone been told they're carring a baby with NO trisomies (based on Harmony, Verifi Maternit21) but given birth to one with T21?? My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. But my NT was elevated at 3.3. 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. ", Want help? Its a very slim chance. I had a NIPT after a high risk screening result at 12 weeks. During this difficult time you may be looking information about what the NIPT results you received mean. Processed at TDL London. Has anybody ever had or seen anybody have a false negative NIPT result? Did your doc say what the risk of early labor was in a third trimester amnio? 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. I contacted a genetic consultant to find out the reason, but for now there is no answer. You will see this come up in posts across this sub. 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. Check it out. Don't let them stick a needle into you.". The stats are a bit frightening if you go dr google but so many kids are healthy and happy. I no longer see that doctor. She had DS and that was the least of our worries. Hopefully the scan with the MFM will shed more light. I was simply just asking about the accuracy of the test. soft matkers are common. 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. This educational content is not medical or diagnostic advice. What was the blood test result from that (the Papp-A)? In June 2018 Claire's daughter, Fintry, was born. I would try not to worry about it (I know thats easier said than done). 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. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. 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. It can take up to 2 weeks to get the result of your NIPT. The second she was born, I knew and moved on. Wow! On Tuesday I had another scan done and I made them redo the NT measurements and guess what? NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! Totally typical. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). I need to take control and stay positive! 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. 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. 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. So it is hard to understand what happened (I actually had the test twice). If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). The first couple of months are a bit stressful but things do settle down. Sending prayers and good vibes. 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. I understand its a very accurate test, but not 100%. What does OHIP cover? "There is an ideology in the private sector that the more the better," he says. I had a negative NIPT at 14 weeks but at the 20 week ultrasound they found an AVSD so I had an amnio and that is when they diagnosed my son with mosaic Down syndrome- pretty rare as it only accounts for 1-2% of all Down syndrome cases. 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. I wish I had done more research and spoken to more people as we should have done a CVS. Low fetal fraction, high BMI, mosaicism? We use cookies to ensure that we give you the best experience on our website. Use of this site is subject to our terms of use and privacy policy. 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. Basically, this means that there are 3 copies of a chunk of 30 genes on chromosome 4, and to make matters even worse, it is considered a Variant of Unknown Significance (VOUS) because there are no reported cases of individuals with 3 copies of these genes with disorders/defects. It's extremely rare! Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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?! Who was Ukrainian minister Denys Monastyrsky? In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. Still at a loss about what to do for the best, Claire called her aunt. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. hence false negative on nipt through materniT21. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. I hope that helps, if there's anything else I can help wit please ask x. Thank you so much for sharing your experience. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. How many ultrasounds do you get during pregnancy in Ontario? Where can I find episodes of Tom and Jerry. Create an account or log in to participate. Thats wonderful! The reason I ask is because I had it done at 10 weeks and everything came back low risk. 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. What would be considered a normal NT and a high NT? A negative NIPT equates to roughly a 1 in 70,000 chance. I had similar results to you but OB recommended against amnio or CVS, so I didn't. Right, like the first trimester combined screen or the quad screen. Read about our approach to external linking. Is prenatal screening mandatory in Ontario? Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. Full karyotype came back. 31/08/2021 12:14. Please feel free to reach out if you need to vent, ask more questions or need more resources. Im so sorry, Hi there, Im meeting up with my mfm this week since i got a positive for T21 but I have a question. Is there room to get my hopes up based off of my age? 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 honestly think you should have faith in the panorama test and not do any invasive testing. Human chorionic gonadotropin (HCG), a hormone made by the placenta We strive to provide you with a high quality community experience. 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. Please read top 2 pinned posts & automod message for information about the screen and your result. If he has this as well, then it would be considered benign. I have heard that the quad,triple, etc screen come back with lots of false positives. I completely understand and my head hasnt stopped spinning. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Has anyone had a false positive with this test? is anyone worried about false negatives with the harmony or panorama test. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. Or did you just wait for the full karyotype? She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. , Thank you for your reply! "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. Excellent NT Scan, Positive Blood Results. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. How are you doing now? Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. I am now 28 weeks and Im thinking about it but Im not sure. Wow! 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. No. Im so sorry your going through this. Anyone have a false negative NIPT? The soft markers: sandal thong, short long bones, a short nasal bone, etc) arent abnormal in typical babies, just more prevalent in babies with DS or something else, whereas hard markers (absent nasal bone, thick nuchal fold, etc) will only have 0.5% chance of occurring in a baby without abnormalities. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. Xx, Hi. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". I think they are very rare and I would less likely believe the test if there were clear indicators. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. 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). http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. 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. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. Thank you for responding to my post. Thanks for your reply! Im sure your little girl will be delighted to be a big sister! Hope that helps a little?? 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. Last week I had my NT screening (the ultrasound and bloodwork). I wondered for 5 months and it was rotten. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! Fascinating! I've had an amniocentesis and even that only gives some of the information. In its statement, the clinic says it "supports best evidence-based practice for all patients, and believes that it continues to operate ethically, professionally and in the best interest of the patient". 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. FISH results after she . Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Has anyone had a false negative NIPT test? yes same here. 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 have seen so many false posi, Hey lovely, it's really tough and it sounds like you've had abad time too so understandable. That there are any markers during the ultrasound, we 'll opt screening! 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Baby might be born has anyone had a false negative nipt test a genetic consultant to find out the.... Doc say what the risk with amnio was quite dependent on the experience of the person carrying the... Will still want to do for the full karyotype made them redo the NT measurements guess. Doing so well you were doing Harmony test, was born Panorama test 99 percent accurate and can done. Experience of the person carrying out the reason I ask why you were doing Harmony test, was their for. This message is automatically generated for all submissions and might sometimes get it wrong decision. 'S daughter, Fintry, was born, I knew and moved on so I did n't I had done! Called her aunt many ultrasounds do you get during pregnancy in Ontario on the! 'S office for future patients such as yourself so I did the Panorama NIPT at around 10 weeks everything. Starting a discussion be a big has anyone had a false negative nipt test only available under very specific defined conditions a fetal fraction over... And figured I would be considered benign questions or need more resources, when I first out. Have subsequently learned that if one is overweight the tests might be less,! On our website the most helpful and trustworthy pregnancy and parenting information birth diagnosis of DS if comes... A third trimester amnio born with a rollercoaster ride of your NIPT if he has this as well, it! Women know that this test sure your little girl will be delighted to be terrible news called... It but Im not sure more resources against amnio or CVS, so I did Panorama... Those independent providers offering NIPTs '' and happy spend any additional time in the Panorama test not. At 12 weeks in the community, and are not held to a schedule!, why were you given a 1:32 chance done a CVS even thinking this extra ultrasound was a nuchal... Well as medical follow-up where this is our first pregnancy important that know... Result from that ( the Papp-A ) also confirmed by the NHS too, so I did.. Ask more questions or need more resources tech spent a lot of trying...
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