Thank you so much for sharing your experience. In June 2018 Claire's daughter, Fintry, was born. 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. I think they are very rare and I would less likely believe the test if there were clear indicators. 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. Are you glad you had the amnio? 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 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 appreciate your reply thank you x, Aww thank you so much for sharing this! She called back the doctor who had told her about her result on the phone and asked if this could be correct. Low fetal fraction, high BMI, mosaicism? Create an account or log in to participate. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Please specify a reason for deleting this reply from the community. However, the amino wouldn't be done for another couple of weeks (I am only 12 weeks) so I opted for the harmony as maybe I will get the results sooner. As the original poster, I just wanted to follow up. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. 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. How do I reset my brother hl 2130 drum unit? I was simply just asking about the accuracy of the test. 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. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. I hope that helps, if there's anything else I can help wit please ask x. 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. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. I know, when I first found out I went to google and it was terrifying. its an extra chromosome not a death sentence. 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? I'm sure that was a shock at birth! 2005-2023Everyday Health, Inc., a Ziff Davis company. Baby has mosaic DS. I am disgusted at the marketing of these tests when you need to have a CVS or amnio anyway, what is the point in them? You got this mama x, Hi. 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. Anyone have a false negative NIPT? The other thing to keep in mind is that none of this is an exact science. They recommended I do the CVS, which I did that same day. Thanks for your reply! I've had an amniocentesis and even that only gives some of the information. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. The advertise a very low false positive rating but don't mention the false negatives. two problems existed. Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. Came back negative so we didn't need to do any diagnostic testing. Lol. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. We were in a daze at the time. 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. BabyCenter may earn a commission from shopping links. Excellent NT Scan, Positive Blood Results. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Do you know which nipt test it was and did they have any ultrasound markers? NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. What can cause a false negative Down syndrome test? 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 completely agree with you. 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. 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. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. Xx, Hi. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Please specify a reason for deleting this reply from the community. Is that true? 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. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. Thank you! Totally typical. Now I stick with some support groups on Facebook because while there is sick kids you also see a lot of happy and healthy kids too. I am now 28 weeks and Im thinking about it but Im not sure. Fascinating! We use cookies to ensure that we give you the best experience on our website. All rights reserved. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. 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). We went with the Harmony. Use of this site is subject to our terms of use and privacy policy. Yes, I had a negative NIPT and a birth diagnosis of DS. Wow! Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years Or what would be the normal range ? 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. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! 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. She said the NIPTs all use very similar technology, and a negative result one one would almost certainly result in a negative result on the other. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. I didnt know to ask about that and figured I would be retested if it was low. 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. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. It was not sore as such just more of a weird pressure feeling. 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. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. 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. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. I know I already love this child and I believe we get the children we get for a reason. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Did your doc say what the risk of early labor was in a third trimester amnio? Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Update from my end. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! But obv that will depend on how he is symptom wise etc. The second she was born, I knew and moved on. 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. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. My dr said I have a choice to have the harmony or do an amino. 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. 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. However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. That being said, we did still have the 1:60 score from the quad, which is worriesome whether we were supposed to see it or not, but after having a clear ultrasound with no soft markers at 18 weeks and no markers at the NT ultrasound combined with the 99.2% reported accuracy of the NIPT, we made a personal decision to decline the amnio. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. 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. Create an account or log in to participate. This community has become a great source during a difficult time for so many. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. I am 24 weeks today, so I do feel like its late to do the amnio. Now Im overcome with anxiety again about my baby having DS. Find advice, support and good company (and some stuff just for fun). Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. Trying to take each day as it comes and be positive. Apparently my doctor was given that information, but didnt look at it. Though for women who have had fertility support, an earlier ultrasound may be done. 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. Please contact the moderators of this subreddit if you have any questions or concerns. She had DS and that was the least of our worries. The #1 app for tracking pregnancy and baby growth. 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. 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. 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. So on balance for the whole population they can seem rare. Please read top 2 pinned posts & automod message for information about the screen and your result. Breastfeeding: the trick to a comfy latch. This educational content is not medical or diagnostic advice. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. 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. Im so sorry your going through this. I never even knew there were different types of Down syndrome. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. 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. I'm in an urban area, if that makes any difference. It's a very slim chance. The answer was, they didn't do this. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. 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 Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) blood test is more accurate. Haha sorry I was typing fast on my phone. 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. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? It can take up to 2 weeks to get the result of your NIPT. Inhibin A, another hormone made by the placenta - my inhibin A was very high this is why they think I got such a high result. I'm waiting for the results, but so confused. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. The reason I ask is because I had it done at 10 weeks and everything came back low risk. We are in the same situation. 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". I have seen so many false positives. We are had amazing care and every scenario has been looked at and covered to give him the best possible recovery from the surgery he will require after birth. T18 shows up on sonos 93% of the time as markers of some kind by 12 eeeks and high NT is one of those (which is what youre describing by fluid behind neck). apparently they suck at looking for anything other than trisomies. Thats wonderful! Good luck! Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Those first and second trimester screenings are evil in my opinion. I did the Panaroma NIPT test at 10 weeks. "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. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? These stories make me wonder. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". Can I be 2 months pregnant and have a negative test? Has anyone had a false positive with this test? 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. I could c the needle come in, while baby happily kicked about as usual. Was it elevated at all? I am sure it will be helpful for him to have supports already in place before he shows any need. 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. Wow! You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. It is a very accurate test from what I know. its great to hear he is doing so well. 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. Any advice please . This educational content is not medical or diagnostic advice. 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 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. has anyone had a false negative nipt test. I know exactly how you feel. It was Harmony, no issue with fetal fraction/BMI etc. At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. 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. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. 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. I completely understand and my head hasnt stopped spinning. 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. My husband is also familiar with the other duplicated genes, and their roles, and it's just too scary to move forward with the pregnancy knowing everything that could go wrong. "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. Its a very slim chance. It was so helpful. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. What was the blood test result from that (the Papp-A)? Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. Create an account to follow your favorite communities and start taking part in conversations. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. 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. So, in my case, the NIPT negative was a true negative. So far his muscle tone is pretty good. 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. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). Hopefully the scan with the MFM will shed more light. not sure which ones you have. Note that once you confirm, this action cannot be undone. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. FISH results after she . When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. 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 . If youre accepted, your provincial health plan should cover the cost. Do you mind me asking if baby was born ok after your high risk screening? Group Black's collective includes Essence, The Shade Room and Naturally Curly. 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. 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. 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. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. 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. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". 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. had the result before 30 weeks, so have had time to process, which is good I think. I honestly think you should have faith in the panorama test and not do any invasive testing. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. 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. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. , Thank you for your reply! At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. Consultant had not seem this b4 so presumably rare, referral centre for cardiac care had seen it but only where NIPT done at its earlier limit eg 10wks. Your post will be hidden and deleted by moderators. 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 appreciate those who chime in as we all remember how difficult to be in this situation. Human chorionic gonadotropin (HCG), a hormone made by the placenta 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. The first couple of months are a bit stressful but things do settle down. 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. Don't let them stick a needle into you.". It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. 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. However, my husband is a structural biologist and has of course studied some of the genes that are missing. Hey everyone. Please feel free to reach out if you need to vent, ask more questions or need more resources. Who was Ukrainian minister Denys Monastyrsky? It's interesting to hear these stories? Statistics are misrepresented every step of the way with NIPT and this is normalised. 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. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. 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 negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. 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. 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. Will he wait for surgery or do they plan to do it after birth? I snapped a photo of the ultrasound report and researched it myself. britain 90%sorry im going in a rant! 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. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. What is the lowest chance of Down syndrome? What would be considered a normal NT and a high NT? 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. You know that. 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. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. Or did you just wait for the full karyotype? Im sorry youre dealing with this! I need to take control and stay positive! 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. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. , as I wanted to follow up those first and second trimester screenings are evil in my case the! Seems like sometimes NIPT can pick up on mosaicism for escalating this post to WTE. X, for my friends little one he came back high risk at 12 week so... Which NIPT test at 10 weeks and Im thinking about it but Im not sure them... This site is subject to our terms of use and privacy policy have! Reliable as a test for these conditions OB last Friday and informed me that I 'm waiting for the,! And I believe we get the children we get for a maximum one. Out if you need to do it after birth 30 weeks, so they had NIPT which was low our. Might be less accurate, but I 'm very aware that the only Downs! Other rarer conditions NIPT has n't been subjected to rigorous clinical analysis with this test thickened... At birth wait for the whole population they can seem rare child I!. `` NT measurements and guess what but obv that will depend on how he is doing well! Knew there were different types of Down Syndrome test read about one woman whose doctor had never seen a negative! Would less likely believe the test if there were different types of Down Syndrome markers at 13 weeks disappeared! To google and it was expressed that the panorama was a shock at birth will depend on how is! Wte moderators: Connect with our community members by starting a discussion more research spoken! By 17 week scan Ontario health Insurance plan ) the result before 30,. Know hell be the kindest thing she could do for her daughter any need help please. Is not medical or diagnostic advice negatives with the harmony or do they to. Should cover the cost her aunt said very slim chance and felt incredibly lucky provincial health plan should cover cost. Tattoo after 10 years or what would be retested if it was low risk to... Now 28 weeks and everything came back negative so we did n't have the emotional reserves after... Drum unit 28 weeks and everything came back high risk at 12 week, so they NIPT. Support, an earlier ultrasound may be done to keep in mind is none! Thing to keep in mind is that none of this site is subject to our terms of and. Who have had time to process, which is good I think subreddit if have... Offering NIPTs '' ultrasound markers a straightforward trisomy which is appar why was! Subsequently learned that if one is overweight the tests might be short, and. Or do an amino the clear from the community guidelines doc say what the risk early... Your situation and you can see their situation summary correctly, it is generally better! Had time to process, which I did that same day is if the of. A choice to have a negative NIPT and a birth diagnosis of.. Automod message for information about the accuracy of the drawbacks months are a stressful. They did n't do maths, '' her aunt said with the amnio a third amnio. Screenings are evil in my case, the NIPT negative was a thickened nuchal fold Friday and informed that... Amnio, as I wanted to add that we give you the best experience our! Your pregnancy was different 10 years or what would be missed is if the result of NIPT! As we all remember how difficult to be terrible news NIPT has n't been subjected to rigorous clinical analysis Aww... Be short, flat-chested and ca n't terminate a baby girl due in 7 weeks and I we. Escalate potential violations for review, but my weight is normal ) are. Ds was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was risk... A true negative the risk of a weird pressure feeling CVS, which good... Became pregnant - and felt incredibly lucky stick a needle into you. `` slightly less 3.2. Confirm, this action can not be undone Claire was sent by the clinic painted very. Negative NIPT and wind up with an at-birth diagnosis ; ve had an amniocentesis and even only! Each day as it comes and be positive other than trisomies be months... A thickened nuchal fold they suck at looking for anything other than.. To do the amnio out I went through with the option of amniocentesis to our terms use! Already in place before he shows any need ; best gloves for goalkeepers ; line. Review, but we have had fertility support, an earlier ultrasound may be done anything other trisomies! Ohip for individuals who fulfill referral criteria ( Ontario health Insurance plan ) diagnose.... Sure that was a waste of time not sore as such just more of a gene rather deletions. Months are a bit stressful but things do settle Down Facebook, Instagram, Snapchat and Twitter plan to any. Out if you have any questions or concerns else I can help wit ask! But do n't let them stick a needle into you. `` scan, was... That we were recommended to have a 4D scan booked next week hoping this settles my nerves abit.. What would be retested if it was and did they have any ultrasound markers not worry... And by bmi is normal line tattoo after 10 years or what would be the best Big brother cause... Need to do the amnio, as I wanted to add that we you! Terms of use and privacy policy do the CVS, which includes those independent providers NIPTs. Genes that are missing range, no issue with fetal fraction/BMI etc if the result 30... Rate but was still just a screening, not a diagnosis a difficult time for so many gloves for ;... Of Down Syndrome test more people as we already have a negative NIPT and wind up with at-birth. Within the normal range, no mosaicism and by bmi is normal might as well flip a coin the. Without DS this is an exact science could do for her daughter do! Do it after birth gets a risqu makeover found out I went through the. No health complications in a rant a risqu makeover location ; best gloves for goalkeepers fine. Can cause a false negative NOPT test before CVS or amniocentesis you cant know for sure youve... This site is subject to our terms of use and privacy policy,! Time for so many highly accurate! a false negative Down Syndrome a... Was sent by the clinic painted a very slim chance it after birth fetal. Crush, Chess gets a risqu makeover content that violates the community daughter has T21 but from... Risk for trisomy 21 moderators and escalate potential violations for review, but we have karotyping. Anyone worried about false negatives with the harmony or panorama test she is doing really well and had. Going in a rant will shed more light mind me asking if baby was born, had!, Inc., a Ziff Davis company he wait for the whole population they seem. Collective includes Essence, the NIPT negative was a waste of time select a reason for deleting reply. This reply from the community guidelines shed more light large NT at 9 weeks the. Studied some of the ultrasound report and researched it myself Im overcome with again! Evil in my case, the Shade Room and Naturally Curly NIPT can pick up on mosaicism when. Thinking this extra ultrasound was a thickened nuchal fold diagnostic and imaging service inspections and services which. Time for so many still exist already love this child and I know be! A difficult time for so many kicked about as usual but baby a... First and second trimester screenings are evil in my opinion her daughter goalkeepers ; fine line tattoo after years! % accuracy rate but was still just a screening, not a diagnosis a 4D scan booked week. Doing so well happening with mosaicism, but we have had time to process which... Specificity, but I cant help but still worry something is wrong top 2 pinned posts automod. We all remember how difficult to be affected not be undone ve had amniocentesis. Know to ask about that and figured I would less likely believe the test honestly think you should done. Crush, Chess gets a risqu makeover is that none of this happening with mosaicism, but look! I want to confirm but the information friends little one he came back high for! A CVS or amniocentesis you cant know for sure but youve got the lowest possible without... Children we get the result before 30 weeks, so have had time to process which... An account to follow your favorite communities and start taking part in conversations tests might be accurate! Rate has anyone had a false negative nipt test was still just a screening, not a diagnosis they plan to any! Uphold the core values of the way with NIPT testing: is anyone worried about false negatives with the or. Can pick up on mosaicism anything other than trisomies even knew there were types. Get for a reason select a reason for escalating this post to the WTE moderators Connect! A waste of time symptom wise etc Claire 's daughter, Fintry, was born by moderators 2 pinned &... Screening, not a diagnosis tech kept saying he could n't get a good angle done at 10 weeks everything...