They were told he wouldn't walk, talk blah blah blah - he does both, is a lovely little boy and he's thriving in a specialist school and is such a fabulous kid. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. False positives are waaaay more common. Just waiting for results. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. 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. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. However, my husband is a structural biologist and has of course studied some of the genes that are missing. Apparently my doctor was given that information, but didnt look at it. I am sure it will be helpful for him to have supports already in place before he shows any need. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? Hey everyone. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. 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. hence false negative on nipt through materniT21. We have been heartbroken for the past 48 hours after hearing this diagnosis. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. Omg we are in very similar boats. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. wven when they told me about the soft markers it was with a frown and an im sorry. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. It was not sore as such just more of a weird pressure feeling. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. Statistics are misrepresented every step of the way with NIPT and this is normalised. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false.. Excellent NT Scan, Positive Blood Results. , Thank you for your reply! I do suffer with health anxiety which probably isnt helping! A negative NIPT equates to roughly a 1 in 70,000 chance. 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. 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. If the sonos are normal I always ask people wait for an amnio. not sure which ones you have. 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. Our son just turned 1 and he's doing fantastic!!! Im so sorry your going through this. She had DS and that was the least of our worries. Reddit and its partners use cookies and similar technologies to provide you with a better experience. I started saving them if you are interested I can send them to you. 31/08/2021 12:14. soft matkers are common. 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. So, has anyone had a false negative result from the NIPT test? cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years 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. PLEASE READ THESE LINKS - this will explain everything. Thank you for your response. The NT was higher at 3.2 so I opted for a CVS. thats brilliant, some mosaic kids have very little issues. 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. Where can I find episodes of Tom and Jerry. 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. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. I have my level 2 ultrasound tomorrow and I'm hoping for a clear scan but even then hope that it will be enough to feel that we should be confident in the Harmony results and disregard the quad screen results. Delighted for you that he is doing so well. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. If he has this as well, then it would be considered benign. FISH results after she . Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. 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. 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. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. So far his muscle tone is pretty good. The advertise a very low false positive rating but don't mention the false negatives. 2005-2023Everyday Health, Inc., a Ziff Davis company. Note: I see I am supposed to add flair but it won't let me. At my 20 week anatomy ultrasound I had 2 soft markers appear. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. 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. But that isn't the case for rarer conditions like Turner Syndrome. Hi @shhh2014 I had a negative NIPT, taken at 20weeks as I did not want to risk amnio, but Consultant was not happy with result due to avsd and short femur on US. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? I have heard that there are rare types of Downs that may be missed and account for the rare false negative. I just did the nipt test and I am not concerned about having false negatives. "She is healthy, beautiful and full of smiles.". It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. I am a bot, and this action was performed automatically. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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. 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. Is that true? Read about our approach to external linking. Last week I had my NT screening (the ultrasound and bloodwork). She signed up for the test at a private IVF clinic. 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. So I'll try to repeat what we were told. I appreciate those who chime in as we all remember how difficult to be in this situation. Is there room to get my hopes up based off of my age? I did a lot of research! We are very similar. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. I didn't want to know the gender but my husband did, so I thought, 'All right then. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. two problems existed. She wanted to eliminate other chromosomal issues not picked up as well on NIPT, so I eventually agreed to amnio at 28weeks where the risk was more of prematurity than miscarriage. Our dating scan showed a normal NT measurement and risk factors were low. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. Read about our approach to external linking. I have been told that they arent 100% but can feel pretty confident in the NIPT. Im sure your little girl will be delighted to be a big sister! In June 2018 Claire's daughter, Fintry, was born. 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. Haha sorry I was typing fast on my phone. Yes, I had a negative NIPT and a birth diagnosis of DS. We went with the Harmony. 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. Its a very slim chance. This is where we found out it was a mosaic diagnosis for T21. has anyone had a false negative nipt test. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. 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. So it is hard to understand what happened (I actually had the test twice). Hey there, my daughter was born with a duodenal atresia. First time pregnancy here.Im 32 years old living in Canada. 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. You will see this come up in posts across this sub. Create an account or log in to participate. What should I think if my NIPT says "Turner"? Please contact the moderators of this subreddit if you have any questions or concerns. 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. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Privacy Policy. 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. , Honestly the thoughts of the amnio wer worse than the actual experience. 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). Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Definitely clicked this post because I wanted to know what 'nips' testing was . Getting a negative from the NIPT test does not mean that you are safe. Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. 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. Note that once you confirm, this action cannot be undone. Since there are abnormalities on ultrasound, it makes sense to do a CVS. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. its an extra chromosome not a death sentence. "In the NIPT test they offer a whole range of conditions that they test for, for which we have no data about how effective and how worthwhile the method of screening is. If you have any questions, I'm happy to help! Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. All rights reserved. This message is automatically generated for all submissions and might sometimes get it wrong. A US technologist scanned the midline of my bump as the consultant put in the needle, I just focused on baby on the screen the entire time. 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. It was so helpful. "And besides, we are from strong Yorkshire stock. 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. Cookie Notice 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. 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. If youre accepted, your provincial health plan should cover the cost. i hope you have a healthy rest of your pregnancy! 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. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? I hope that helps, if there's anything else I can help wit please ask x. Ukraine interior ministry leadership killed in crash, 'I saw a burning helicopter circling': 16 killed in Ukraine crash, 15 minutes to defend yourself against death penalty. I know of two false negatives for t21 via nipt. The #1 app for tracking pregnancy and baby growth. We are in the same situation. She is small, but there are short genes in the family. Were happy hes doing well too! Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. Don't let them stick a needle into you.". 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. Thank you for your response. I have wondered the same thing! Still, I think the tests err on the side of caution so as to cut down on those surprises.. I need to take control and stay positive! Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Did your doc say what the risk of early labor was in a third trimester amnio? I'm waiting for the results, but so confused. The advertise a very low false positive rating but don't mention the false negatives. Use of this site is subject to our terms of use and privacy policy. I am now 28 weeks and Im thinking about it but Im not sure. They just called it aNIPT, it was done by Progenity. What was the blood test result from that (the Papp-A)? Has anyone had a false negative NIPT test? Are you glad you had the amnio? They recommended I do the CVS, which I did that same day. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. Wow! 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. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Right, like the first trimester combined screen or the quad screen. 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. 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. It's Just so hard to overcome when it happens to you. Waiting on our CVS results we did Friday. 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. "It was this miraculous pregnancy," she says. I only plan to do an amnio if something life threatening shows up. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. Fascinating! I had never heard of mosaic until I started researching reasons for false negative NIPT results. I got the FISH results from my CVS back already, and it is also negative. Please whitelist our site to get all the best deals and offers from our partners. apparently they suck at looking for anything other than trisomies. I also agree about people and doctors and how they view DS. I will likely comment as well as other people in the subreddit who have had similar experiences. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. My doctor was confident and reassuring regarding the procedure which was aassive factor. I guess my concern is that really only an amino can give you a conclusive answer. Xx, Hi. The #1 app for tracking pregnancy and baby growth. It also talked about the test's reliability. Anyone have a false negative NIPT? Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. The BBC is not responsible for the content of external sites. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Still at a loss about what to do for the best, Claire called her aunt. our test came back negative across the board. 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. Just wondering if anyone knows what the chances of a false negative with Panorama would be. I'll take 1 in 70,000 any day over 1 in 7 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/. Note that once you confirm, this action cannot be undone. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. IF I had been told that a) its not reliable for edwards and b) knew about all of the other chromosome issues that could be possible we would NEVER have wasted 400 on a harmony and spent weeks bonding with a really poorly baby who would not have made full term. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di This post is meant as a welcome and quick information / resources to those who have just found this sub. 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. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. iceland is 100%. It was the blood test and my maternal age of 36 years. Doing a lot of research into what to expect, but overall still so excited and love this baby just as fiercely as before I knew. So ask your doctor before making any big decisions and, if you are tempted to ask Dr Google, look for how common the condition is before jumping to any conclusions. The reason I ask is because I had it done at 10 weeks and everything came back low risk. Please whitelist our site to get all the best deals and offers from our partners. Can you share what your third trimester amniocentesis was like? LO is 6 months on Sunday and is perfect! Who was Ukrainian minister Denys Monastyrsky? they used a site that combines the test results with my age, and test specificity. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. 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. 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. Please specify a reason for deleting this reply from the community. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' Although I agree that harmony/panorama are better screening tools. Create an account or log in to participate. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . 1997-2023 BabyCenter, LLC, a Ziff Davis company. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). Full karyotype came back. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. But for t13. Instead, it said, it "may be best utilised" in cases where there was a family history of a similar chromosomal anomaly, or where an ultrasound scan had given reason to suppose that such an anomaly could be present. There are some options filled in, but you can also write in your own result. 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 have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. Hope that helps a little?? POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/. Harmony is what I took! What was your NT like? The #1 app for tracking pregnancy and baby growth. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. BabyCenter may earn a commission from shopping links. 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. 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. But the fact that the state of CA is saying NIPT is superior to their test and that they don't pay heed to the results if NIPT has come back negative gives me a great amount of confidence. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. and our 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. It was Harmony, no issue with fetal fraction/BMI etc. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. What would be considered a normal NT and a high NT? Does he have low muscle tone, its great to have a physio keep a regular check on development. Your post will be hidden and deleted by moderators. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. I know of a family who had a false negative. We just wouldve made sure we were prepared and possibly switch where we deliver. Best of luck to you. 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. I hope you are doing okay! Your post will be hidden and deleted by moderators. I would try not to worry about it (I know thats easier said than done). He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. He has brought so much joy to our lives. 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. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. Thank you!! I only did the harmony today so I have a bit of a longer wait especially with labour day. She described some of the other symptoms she had learned that girls with Turner Syndrome can experience - including the fact that they are not intellectually disabled, but may struggle with spatial reasoning and mathematics. 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. Yes, it is possible. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test But in many cases, it is still most likely that your child is perfectly fine. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. During this difficult time you may be looking information about what the NIPT results you received mean. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! Got an amnio which confirmed full trisomy 18. Mariegol, why were you given a 1:32 chance? The only thing that was true? 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? NIPT has been shown in multiple studies to be very good at identifying the most common chromosomal conditions - Down's syndrome, Edwards' syndrome and Patau's syndrome - particularly in women who have a higher chance [1] of having a fetus with one of these conditions. 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. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! Check it out. I am 24 weeks today, so I do feel like its late to do the amnio.