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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Got an amnio which confirmed full trisomy 18. Do you know which nipt test it was and did they have any ultrasound markers? Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Note that once you confirm, this action cannot be undone. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. False positives are more common than false negatives. Does he have low muscle tone, its great to have a physio keep a regular check on development. NIPT for Down's, Edwards and Patau syndromes has recently become available to pregnant women on the NHS in Wales who are considered to be in the higher chance category, and it has been promised to women in England in the same category in the near future. I'm thinking of asking for a NT remeasure. (In a statement, the clinic Claire went to says its patients are "explicitly counselled on the use of the test and possible outcomes" and that they are given a full explanation of the conditions NIPT may detect - as well as an explanation of the test's limitations.). A negative NIPT equates to roughly a 1 in 70,000 chance. You know that. 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? Still at a loss about what to do for the best, Claire called her aunt. Are you glad you had the amnio? wven when they told me about the soft markers it was with a frown and an im sorry. The first couple of months are a bit stressful but things do settle down. - BabyCenter Canada 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. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. Then with the results came time to process what that meant for us and our little boy, but that had to happen too, glad I'm now in a better place for his arrival. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. 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. Don't let them stick a needle into you.". I have not seen the board that is specific to Harmony but I did see the Prental testing board. Im really not inclined to do an amnio, but I wonder if there would be any sense in taking a different CFDA test for peace of mind. 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 If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. LO is 6 months on Sunday and is perfect! PLEASE READ THESE LINKS - this will explain everything. 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. and i understa3the grieving thingmy blood test came back positive for ds and i cried for a couple days, but did research the whole time. Interesting! 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. 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 did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Where can I find episodes of Tom and Jerry. It's extremely rare! 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. the measurement came back at 1.5.. Normal! Can I be 2 months pregnant and have a negative test? So it is hard to understand what happened (I actually had the test twice). the mfm doctor told me they are really common. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. Waiting on our CVS results we did Friday. A negative NIPT equates to roughly a 1 in 70,000 chance. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, 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. 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. 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. I did the Panaroma NIPT test at 10 weeks. It's a very slim chance. I had a NIPT after a high risk screening result at 12 weeks. and our I had never heard of mosaic until I started researching reasons for false negative NIPT results. This message is automatically generated for all submissions and might sometimes get it wrong. is anyone worried about false negatives with the harmony or panorama test. 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. She shows no symptoms of Turner Syndrome. We went with the Harmony. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. "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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Did you get FISH results that confirmed your doctors suspicion? When it finally came to an end the couple decided to try having a baby through IVF, using some sperm her husband had had frozen and stored before he had chemotherapy. our test came back negative across the board. Was it bc of a blood test or the NT or age? Lol. I'm in an urban area, if that makes any difference. I honestly think you should have faith in the panorama test and not do any invasive testing. The GC said that we should not have even seen the quad screen results. 31/08/2021 12:14. 1997-2023 BabyCenter, LLC, a Ziff Davis company. 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/. 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. has anyone had a false negative nipt test. 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! 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. 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. 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. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). Like I said, this is our first pregnancy and we are so scared. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. Hey there, my daughter was born with a duodenal atresia. Create an account or log in to participate. Is there room to get my hopes up based off of my age? I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. I d, Hi, But obv that will depend on how he is symptom wise etc. I'm sure if I knew less about the possible outcome, or if we didn't get the micro array, I would be continuing the pregnancy. Big im glad you see the reality! Is prenatal screening mandatory in Ontario? Use of this site is subject to our terms of use and privacy policy. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. Our dating scan showed a normal NT measurement and risk factors were low. But the ultrasound that was done at 10 weeks is technically too early to check fluid behind the babies neck so theres a chance things look better on Monday. Read about our approach to external linking. which company did you have your NIPT through? Sending prayers and good vibes. I have seen so many false positives. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. Please whitelist our site to get all the best deals and offers from our partners. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. 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. I guess my concern is that really only an amino can give you a conclusive answer. 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. hence false negative on nipt through materniT21. The reason I ask is because I had it done at 10 weeks and everything came back low risk. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). 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. In this case I would have a CVS as soon as possible to confirm so you can TFMR. Haha sorry I was typing fast on my phone. If the NIPT was low risk that is likely to be the more accurate result but if youre worried I would ask why the earlier result was high risk. I'm also wondering what company you used, and if you found out a reason? This educational content is not medical or diagnostic advice. FISH results after she . NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. The second she was born, I knew and moved on. Low fetal fraction, high BMI, mosaicism? Privacy Policy. Who was Ukrainian minister Denys Monastyrsky? yes same here. If youre still worried, go for the amnio. Sometimes there is placental mosaicism (variety of cells in the placenta) that can be different from the babyor the baby can also have a variety of normal and abnormal cells. Definitely clicked this post because I wanted to know what 'nips' testing was . that was as of last Monday. 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. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! 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 med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. Processed at TDL London. There's actually a board on here for those specific NIPT tests. During this difficult time you may be looking information about what the NIPT results you received mean. 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. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has "a high failure rate" - a low detection rate and a high false positive rate. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. It's mainly used to screen for Down's Syndrome and two. My husband I are in total agreement and would go for an amino if the harmony test is positive. "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. 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. Although I agree that harmony/panorama are better screening tools. My doctor was confident and reassuring regarding the procedure which was aassive factor. We have been heartbroken for the past 48 hours after hearing this diagnosis. 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! Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! The #1 app for tracking pregnancy and baby growth. 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. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. Hey there, thank you for visiting the sub. (I'm 32). Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Turner syndrome is a chromosomal condition that only affects girls. A second measure would be good. I'll take 1 in 70,000 any day over 1 in 7 We strive to provide you with a high quality community experience. 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. 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. Thank you for your response. I have the same fears you do. The NIPT test is highly accurate at detecting DS but no test is 100%. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. Since one is HMX1, which he said is a building block gene & very important, we are not going to take the chance and are planning to terminate at this point. The scientist she spoke to at the lab noted that she didn't seem to have been given the recommended pre-test counselling, so she rang her clinic to ask why this was. (Harmony) They still can't figure out why. I completely agree with you. 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. I was told the accuracy of the test is 99.9% or something like that. I wondered for 5 months and it was rotten. How do I reset my brother hl 2130 drum unit? Create an account or log in to participate. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? , Honestly the thoughts of the amnio wer worse than the actual experience. The quad test isn't as accurate as the combined test you have at 12 weeks that takes into account the babies NT measurement, I couldn't have the combined test as baby wasn't in the right position. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test Statistics are misrepresented every step of the way with NIPT and this is normalised. 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. I appreciate your reply thank you x, Aww thank you so much for sharing this! "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.". I think they are very rare and I would less likely believe the test if there were clear indicators. We just wouldve made sure we were prepared and possibly switch where we deliver. Getting a negative from the NIPT test does not mean that you are safe. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. Confirmed both FISH and NIPT. These stories make me wonder. 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. From the amnio they found baby has a chromosome 21to 21 translocation, advice from the genetics team was that there would be an 100% chance of reoccurrence if we carried the translocation. had the result before 30 weeks, so have had time to process, which is good I think. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. If he has this as well, then it would be considered benign. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. They are testing my husband now. I understand you feel awful. Read about our approach to external linking. i did the materniT genome test and was told it was 86% accurate. Thank you for your response. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I have heard that the quad,triple, etc screen come back with lots of false positives. Full karyotype came back. 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. ", Want help? We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di Will he wait for surgery or do they plan to do it after birth? But if the CVS comes back mosaics, you may need to follow up with an amnio. I completely understand about the anxiety it may have caused. 20062023 BabyCenter, LLC, a Ziff Davis company. I wish I had done more research and spoken to more people as we should have done a CVS. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. Your post will be hidden and deleted by moderators. 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. What should I think if my NIPT says "Turner"? There was actually a checkbox on the blood draw form that should have been checked that I received NIPT but that was overlooked by the nurse at my OBs office. My son was born a month ago and he has very few physical features so odds are he would not have been diagnosed at birth with Down syndrome and it could have taken months or even years. I feel maybe he should have just retested at a different time. Hey there Im so sorry youre here. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. All rights reserved. After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. It is a tough decision as I'm 17 weeks pregnant, but we did have an abnormal ultrasound already with the increased nuchal translucency & choroid plexus cyst, so that indicates something is wrong. Hope that helps a little?? 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. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. Also, we didn't have any markers as part of the ultrasounds Because of the NIPT coming back is low risk and no specific markers, no one suggested I should do an amnio. I need to take control and stay positive! It is a very accurate test from what I know. 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.
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