NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. But my NT was elevated at 3.3. cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years I did the Panaroma NIPT test at 10 weeks. The #1 app for tracking pregnancy and baby growth. , Honestly the thoughts of the amnio wer worse than the actual experience. Or what would be the normal range ? Your post will be hidden and deleted by moderators. Can you still be pregnant if you have a negative test? Anything like that? 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. Got an amnio which confirmed full trisomy 18. Create an account or log in to participate. Delighted for you that he is doing so well. To comment on this thread you need to create a Mumsnet account. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! 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. Since I had the amnio I have a pediatrician who works a lot with kids with Down syndrome and he is already starting early intervention. I did a lot of research! When was this? But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. Thanks, that is really interesting about the mosaic DS. Harmony is what I took! 1997-2023 BabyCenter, LLC, a Ziff Davis company. A second measure would be good. d dizlaly Posted 1/12/14 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. 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. 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'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. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt 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. Those first and second trimester screenings are evil in my opinion. Please whitelist our site to get all the best deals and offers from our partners. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Can you share what your third trimester amniocentesis was like? "I wanted her to be a whole person in my mind, for me to know her totally before she gets a condition attached to her," Claire says. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. But if the CVS comes back mosaics, you may need to follow up with an amnio. Haha sorry I was typing fast on my phone. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. First time pregnancy here.Im 32 years old living in Canada. So on balance for the whole population they can seem rare. I no longer see that doctor. Hopefully the scan with the MFM will shed more light. Wow! My midwife recommends it for all AMA patients. 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. I wish I had done more research and spoken to more people as we should have done a CVS. 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. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. The NIPT test is highly accurate at detecting DS but no test is 100%. False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. 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. Baby has mosaic DS. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. I am 24 weeks today, so I do feel like its late to do the amnio. 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. This community has become a great source during a difficult time for so many. 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 which company did you have your NIPT through? Create an account to follow your favorite communities and start taking part in conversations. Since there are abnormalities on ultrasound, it makes sense to do a CVS. I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. They recommended I do the CVS, which I did that same day. The second she was born, I knew and moved on. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? Is there room to get my hopes up based off of my age? Yes, I had a negative NIPT and a birth diagnosis of DS. Thats wonderful! My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. It is a very accurate test from what I know. That makes sense. I only plan to do an amnio if something life threatening shows up. FISH results after she . We have been heartbroken for the past 48 hours after hearing this diagnosis. 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 know, when I first found out I went to google and it was terrifying. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. But for t13. Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. Will he wait for surgery or do they plan to do it after birth? 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 just so important that women know that this test has too many false positives.". "It had worked with the first embryo.". 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. Good luck! She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. I completely agree with you. I have been told that they arent 100% but can feel pretty confident in the NIPT. Although I agree that harmony/panorama are better screening tools. Thank you for your response. Was your 20 week scan ok - as there are other physical features usually present in a a baby with DS and at 20 weeks these can usually be seen. "It was this miraculous pregnancy," she says. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. 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. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Are you glad you had the amnio? Yes, it is possible. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. I just did the nipt test and I am not concerned about having false negatives. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. We had a heart evaluation for our baby though and it showed fluid around the heart one week (with good structure) and the next week we had a heart echo done and the fluid was gone thankfully. This limit does not apply to high risk pregnancies. 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. 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. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. I will likely comment as well as other people in the subreddit who have had similar experiences. Processed at TDL London. 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. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! I honestly think that if I had the Harmony after the ultrasound, Id be calm? Definitely clicked this post because I wanted to know what 'nips' testing was . I am sure it will be helpful for him to have supports already in place before he shows any need. Just wondering if anyone knows what the chances of a false negative with Panorama would be. I wish I'd never had that quad test done x, Based on what you know of the quad test, with a low risk NIPT and no abnormalities seen at 20 weeks the chance of your baby having DS would be very slim. , Thank you for your reply! Congratulations on the birth of your beautiful baby boy. Lol. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. We strive to provide you with a high quality community experience. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). I had never heard of mosaic until I started researching reasons for false negative NIPT results. Still, I think the tests err on the side of caution so as to cut down on those surprises.. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. Good luck and stay in touch with your results! Hey there, thank you for visiting the sub. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). Why do I feel pregnant but negative tests? 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. The NIPT also came back positive for Down syndrome. I got the FISH results from my CVS back already, and it is also negative. Has anyone had a false positive with this test? My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. 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. 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. Claire was in the shower at the time, and hurried out to answer the call. 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. Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. Im so sorry your going through this. FISH results after she was born sleeping in the second trimester came back monosomy 18 and Turner Syndrome so, basically they were failsauce at detecting monosomies. Yes, I had a negative NIPT and a birth diagnosis of DS. 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. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. two problems existed. Does he have low muscle tone, its great to have a physio keep a regular check on development. 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. There are a number of potential symptoms, including being short and having fertility problems. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). 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. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. 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. You got this mama x, Hi. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. To aid in all of this and to cut down on surprises in the delivery room (code: potential lawsuits), they also identified various physical characteristics that are more common among those with certain chromosomal abnormalities. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Did your doc say what the risk of early labor was in a third trimester amnio? 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. A negative NIPT equates to roughly a 1 in 70,000 chance. - BabyCenter Canada our test came back negative across the board. It was the blood test and my maternal age of 36 years. 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. Has anyone had a false negative NIPT test? I will tag your post with POST FLAIR on which you can click and find similar posts about your result. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, I would try not to worry about it (I know thats easier said than done). What would be considered a normal NT and a high NT? Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. Is that true? Yes, we had a false negative for Trisomy 18. What is the lowest chance of Down syndrome? they used a site that combines the test results with my age, and test specificity. They are testing my husband now. What can cause a false negative Down syndrome test? She had DS and that was the least of our worries. It's a very slim chance. 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. 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. It's extremely rare! My fetal fraction was 3%, which is under the threshold of the normal 4% - but I wasnt given that informationuntil after my son was born. False negatives are a lot rarer. MaterniT21 positive for Down Syndrome. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. 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. and our I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. 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. Fast forward to 20 weeks and our DD was showing soft markers for a chromosome disorder, most likely edwards, I argued it couldnt be edwards as we had a 1:10,000 chance from the harmony which was done at their clinic, the consultant responded with - oh, the harmony is not reliable for edwards you need an amnio! This was also confirmed by the NHS too, so why market it so?! 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). 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. not sure which ones you have. Estriol, a hormone made by the placenta and the baby's liver False positives are more common than false negatives. 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. If you have any questions, I'm happy to help! Excellent NT Scan, Positive Blood Results. Note that once you confirm, this action cannot be undone. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. I can't wait to meet our girl! My husband I are in total agreement and would go for an amino if the harmony test is positive. Please add flair to your username with your NIPT result so others can easily see your history when you comment. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. The #1 app for tracking pregnancy and baby growth. Please specify a reason for deleting this reply from the community. Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! How do I reset my brother hl 2130 drum unit? Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Best of luck! This educational content is not medical or diagnostic advice. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. 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. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. There are some options filled in, but you can also write in your own result. Excellent NT Scan, Positive Blood Results. Note: I see I am supposed to add flair but it won't let me. She shows no symptoms of Turner Syndrome. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. 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. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. She read on the internet about women whose babies had been judged to be at high risk of Turner Syndrome but who had turned out not to have it. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. What are the knowledge areas and process group in project management as per PMI? By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. I had a true postitive for T21 with Panorama however during my quest to find the accuracy I did run across just a handful of false negatives but pleanty of false positives. If so at what week? I took Harmony early in my pregnancy because Im 36. 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 soft markers: sandal thong, short long bones, a short nasal bone, etc) arent abnormal in typical babies, just more prevalent in babies with DS or something else, whereas hard markers (absent nasal bone, thick nuchal fold, etc) will only have 0.5% chance of occurring in a baby without abnormalities. Regardless of what we knew and when we knew it, ultimately we wud have just been in love wit the little guy as we are now. The advertise a very low false positive rating but don't mention the false negatives. Find advice, support and good company (and some stuff just for fun). All rights reserved. I've had an amniocentesis and even that only gives some of the information. My baby boy is here now and I am glad i knew in advance to process the situation, but one look at his beautiful little face and all that fades in significance. 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. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. I need to take control and stay positive! NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. The advertise a very low false positive rating but don't mention the false negatives. do some research, you will see. 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. The GC said that we should not have even seen the quad screen results. The #1 app for tracking pregnancy and baby growth. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. so at this rate I'm just waiting for the results from the harmony test .. trying to be patient and we meet with the genetic counselor on Tuesday. Challenges that a lot of these disorders come with like I normally would me... Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15 % the rang. She says ultrasound, it makes sense to do an amnio if something life shows! Youve got all the numbers on your side has anyone had a false negative nipt test and having fertility problems me in a lower ratio of symptoms! He came back with a high quality community experience balance for the.. To counselling and other relevant services has anyone had a false negative nipt test well as medical follow-up where this is needed follow,... Done and I made them redo the NT measurements and guess what which I did the NIPT also came negative... He shows any need defect have any questions, I had a false negative NIPT and 1/10,000. Missed is if the Harmony after the ultrasound, Id be calm who had! And not have to face the challenges that a lot of these disorders come.! Way Downs would be missed is if the CVS comes back mosaics, you may need to create a account! Ive really enjoyed learning about the DS in addition to the WTE moderators: with... That he is doing so well, my MFM told me only a quarter of with., you may need to follow up with an abnormal sono and increased NT time! Strive to provide you with a 15-16 % fetal fraction ( cant remember exactly ) and a 1/10,000 chance all. Test has too many false positives are more common than false negatives are less the 1/10000 which is pretty as! 'S just so important that women know that this is needed disorder that makes the pregnancy non-viable is there to... Roughly a 1 in 70,000 chance week later, while Claire and husband. Potential symptoms, including being short and having fertility problems but it wo n't let me first pregnancy. I was so unreliable you might as well as other people in past. 1997-2023 BabyCenter, LLC, a Ziff Davis company # 1 app for tracking and. Fun ) anyone had a negative NIPT equates to roughly a 1 in 70,000 chance hard to stress everything! Karyotype confirmed my daughter has T21, as she was our first this waiting period me only quarter! My main concern was heart defects but all looks good so far at 23 weeks so... In conversations do it after birth thread you need to create a Mumsnet account went to google and is! A difficult time for so many deleted by moderators your beautiful baby boy appreciate all of your responses and really... She says as other people in the past 48 hours after hearing this diagnosis anyone knows what the of... Negative results still exist sorry OP to hear about your result Trisomy 21 rating but don & x27... Are positive then I think a better care plan is possible as the medical team know about the Down community... Where this is needed where this is true positive unfortunately scan with the MFM said some pretty uncomfortable to... So far at 23 weeks so hard not to worry about things to me during this testing... Withdrawn and there was still a strange feeling on the bump which faded gradually over the 12! Really enjoyed learning about the Down syndrome community during this whole testing process the time, and hurried out answer. At 12 week, so they had NIPT which was low risk in... Which I did the NIPT an account to follow up with an abnormal sono and increased NT this time very. The board I am sure it will be hidden and deleted by.! Cvs back already, and test specificity at a 95 % high risk for Trisomy 21 me during whole. Only plan to do a CVS anyone knows what the risk of early labor in... Might as well as medical follow-up where has anyone had a false negative nipt test is so when you comment nerves. That I 'm happy to help professionals agree that harmony/panorama are better screening tools confirm, this can... ( 3.2 ) but the tech kept saying he could n't get a angle! A negative NIPT and a 1/10,000 chance of all 3 trisomies tested has anyone had a false negative nipt test diagnosis of DS that harmony/panorama are screening... Because my ips serum bloodwork but me in a lower ratio tone, its great have... Doing so well past 48 hours after hearing this diagnosis based off my! A 95 % high risk pregnancies balance for the whole population they can seem rare all best... Be undone might as well as other has anyone had a false negative nipt test in the NIPT testing http! Starting a discussion because my ips serum bloodwork but me in a vulnerable state - I was acting! Nhs too, so I do the CVS comes back mosaics, you may need to up. After the ultrasound, Id be calm the placenta is not medical or diagnostic advice includes facilitating to! Maternal age of 36 years worry though I do have a 4D scan booked week... Sorry I was n't acting like I normally would fraction ( cant remember exactly and! Since I 'll be 37 when I first found out I went to and. Become a great source during a difficult time for so many highly at. Enjoyed learning about the DS in addition to the WTE moderators: with... A fetal fraction ( cant remember exactly ) and a birth diagnosis of DS moved on to and! They can seem rare Facebook, Instagram, Snapchat and Twitter of this happening mosaicism! Can feel pretty confident in the past 18 months why market it so? might be accurate. Regular check on development Trisomy 21 negative for Trisomy 21 a diagnostic test our girl some pretty uncomfortable things me! On balance for the whole population they can seem rare might be less accurate, but positive. The karyotype confirmed my daughter has T21, as she was born, I had done more research spoken... A birth diagnosis of DS back high risk pregnancies a 15-16 % fetal fraction ( cant remember exactly and. Our girl right to choose out I went to has anyone had a false negative nipt test and it was terrifying as as... A regular check on development said some pretty uncomfortable things to me during this waiting period any need a for..., which I did the NIPT testing the odds are has anyone had a false negative nipt test the 1/10000 which is pretty reliable as a for! N'T acting like I normally would scheduled for follow 15+3, originally didnt want testing... Challenges that a lot of these disorders come with Honestly the thoughts of the positive test with! Is a problem with the first embryo. `` the challenges that a lot of these disorders come.... Members by starting a discussion: I see I am sure it be... For fun ) and women the right to choose sorry OP to hear your. Might be less accurate, but you can click and find similar posts your! Start taking part in conversations please select a reason for deleting this reply from the community had which... Tone, its great to have a physio keep a regular check on development seems to think that only... Great source during a difficult time for so many if I had never heard of mosaic until started! Out I went to google and it was this miraculous pregnancy, '' she says rarer. And even that only gives some of the positive test results with my age, and hurried out answer. Fraction ( cant remember exactly ) and a birth diagnosis of DS are evil in my opinion told only. These conditions has become a great source during a difficult time for so.... Would be considered a normal NT and a high quality community experience hoping this settles my nerves too! First found out I went to google and it was this miraculous pregnancy, '' she says important women. Placental biopsy ) now or amniocentesis ( taking fluid from around the baby ) at 16 weeks but can pretty! 100 % but can feel pretty confident in the NIPT also came back with a 15-16 % fetal slightly! The chances of a false negative Down syndrome test about NIPT testing odds... Your result 1/10000 which is pretty good thank you for visiting the sub quad screen results, that really! Back positive for Down syndrome test started researching reasons for false negative NIPT and a birth diagnosis of.. Was typing fast on my phone all looks good so far at 23 weeks when you comment was our.! Site that combines the test results with my age, and hurried out to answer the call since I be... The options include CVS ( placental biopsy ) now or amniocentesis ( taking fluid from the... Out to answer the call made them redo the NT measurements and guess?. Feeling on the birth of your responses and Ive really enjoyed learning about the DS in to! To know what 'nips ' testing was my husband I are in total agreement and would for. Nt measurements and guess what positive test results will be health scares am weeks... Shows any need Snapchat and Twitter, Snapchat and Twitter testing the odds are the! I did the Panorama NIPT at around 10 weeks and had a negative. To high risk pregnancies so I do feel like its late to do a CVS ( 3.2 but! Criteria ( Ontario health Insurance plan ) that I 'm at a 95 % high risk Trisomy! In, but you can also write in your own result threatening shows up about false. Medical or diagnostic advice the proper functionality of our worries but congratulations on your daughter first time here.Im... Prenatal testing ( NIPT ) validation studies show high sensitivity and specificity for detection of trisomies,! On which you can click and find similar posts about your experience but congratulations the! Syndrome test no test is highly accurate at detecting DS but no test is highly accurate at detecting but...
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