But this was not the case and I dont like the false hope is helpful. 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. which company did you have your NIPT through? During this difficult time you may be looking information about what the NIPT results you received mean. Your post will be hidden and deleted by moderators. It's interesting to hear these stories? I'm unclear. What should I think if my NIPT says "Turner"? 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. You might ask yourself: How important is it for you to know if there is an increased chance of a chromosome difference that could affect your babys health and development? There are some options filled in, but you can also write in your own result. I honestly would not spend any time worrying about it being wrong. It's Just so hard to overcome when it happens to you. The #1 app for tracking pregnancy and baby growth. Please add flair to your username with your NIPT result so others can easily see your history when you comment. I live in Canada, and did Panorama by LifeLabs. do some research, you will see. You got this mama x, Hi. Right, like the first trimester combined screen or the quad screen. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. 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. 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?! You can ask your midwife to refer you in to perinatal mental health or even self refer if in England to counselling which is fast tracked if pregnant or postnatal. I had never heard of mosaic until I started researching reasons for false negative NIPT results. 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. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di "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. Note that once you confirm, this action cannot be undone. That's just my personal experience tho, I can totally see why people would go either way with this. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. This updates the flair on your username IN THIS SUB ONLY. 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. The NIPT test is highly accurate at detecting DS but no test is 100%. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . If so at what week? Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. You know that. Well I would be more confident if she would have spent a bit more time. they used a site that combines the test results with my age, and test specificity. Is there room to get my hopes up based off of my age? Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. I did the Panaroma NIPT test at 10 weeks. She is small, but there are short genes in the family. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. 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. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. I'm waiting for the results, but so confused. 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. is anyone worried about false negatives with the harmony or panorama test. All prenatal screening is optional. So it is hard to understand what happened (I actually had the test twice). She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". "I ran towards this phone and while I was standing there, shivering in a towel, the doctor told me that my baby had a chance of having Turner Syndrome.". 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. Turner syndrome is a chromosomal condition that only affects girls. i hate the way society views ds. 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. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. They are testing my husband now. In your case, this is less likely since there were issues seen on ultrasound. its an extra chromosome not a death sentence. Yes, I had a negative NIPT and a birth diagnosis of DS. 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. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. 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. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test I completely understand about the anxiety it may have caused. Im not sure. What would be considered a normal NT and a high NT? Thank you for sharing this. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. Cookie Notice Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. Did you get FISH results that confirmed your doctors suspicion? 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. ive also been asked if i plan to continue this pregnancy by multiple doctors, and been told i have until 24 weeks to terminate.heartbreaking! 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 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. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. 31/08/2021 12:14. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! Thank you for those figures I was just told Nipt came back low risk but "it is only a screening test and false negatives can happen and you can still have the amnio if you want" I was never reassured that nipt is really accurate. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. First time pregnancy here.Im 32 years old living in Canada. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) FISH results are normal so it seems like the NIPt was correct in my case. We went with the Harmony. Im really not inclined to do an amnio, but I wonder if there would be any sense in taking a different CFDA test for peace of mind. Unlike the NT test which has many shortcomings. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. 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 doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. Claire Bell did not have an invasive test, because the more she read about the NIPT test as a method of screening for Turner Syndrome the more sceptical she became. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. Use of this site is subject to our terms of use and privacy policy. Confirmed both FISH and NIPT. But if the CVS comes back mosaics, you may need to follow up with an amnio. I only did the harmony today so I have a bit of a longer wait especially with labour day. Met with a genetic counselor yesterday and she confirmed what you said. 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. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. At my 20 week anatomy ultrasound I had 2 soft markers appear. Do you mind me asking if baby was born ok after your high risk screening? All rights reserved. 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 for t13. 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. Don't let them stick a needle into you.". Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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. 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. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. "There is an ideology in the private sector that the more the better," he says. 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. Is prenatal screening mandatory in Ontario? "It was this miraculous pregnancy," she says. used hydraulic press brakes for sale. I was told the accuracy of the test is 99.9% or something like that. I completely understand and my head hasnt stopped spinning. Though for women who have had fertility support, an earlier ultrasound may be done. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. Thank you!! Sending prayers and good vibes. Yes, we had a false negative for Trisomy 18. 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. This message is automatically generated for all submissions and might sometimes get it wrong. I do suffer with health anxiety which probably isnt helping! Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. The answer was, they didn't do this. Read about our approach to external linking. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. I had a NIPT after a high risk screening result at 12 weeks. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). 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. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. 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. 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. I appreciate your reply thank you x, Aww thank you so much for sharing this! The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. 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. PLEASE READ THESE LINKS - this will explain everything. For more information, please see our I have seen so many false positives. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Had to TFMR at 22 weeks. 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. A negative NIPT equates to roughly a 1 in 70,000 chance. If you continue to use this site we will assume that you are happy with it. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. We went ahead at a private clinic at 11 weeks although the NT by then was measuring normal and we were advised everything looked fine and the sonographer at our reassurance scan had misread, but harmony was a safe way to go - indeed the 9 other couples in the waiting room were all having harmony. Wow! But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. 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. wven when they told me about the soft markers it was with a frown and an im sorry. I can't wait to meet our girl! Delighted for you that he is doing so well. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. Thank you for responding to my post. The first couple of months are a bit stressful but things do settle down. Hope that helps a little?? Can I be 2 months pregnant and have a negative test? Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. 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. But that isn't the case for rarer conditions like Turner Syndrome. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. 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. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. The Harmony test came back clear and we relaxed. The second she was born, I knew and moved on. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. 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 I'll take 1 in 70,000 any day over 1 in 7 Getting a negative from the NIPT test does not mean that you are safe. It was not sore as such just more of a weird pressure feeling. I want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. "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. A test result can sound like a near certain diagnosis when the test says it's 95% accurate. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. 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. My risk is 1:30. I was simply just asking about the accuracy of the test. Thank you for your response. If youre accepted, your provincial health plan should cover the cost. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' Really, they should have told me what that box was about." Thanks, that is really interesting about the mosaic DS. Best of luck! LO is 6 months on Sunday and is perfect! Although I agree that harmony/panorama are better screening tools. soft matkers are common. Good luck! (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. 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. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. Please specify a reason for deleting this reply from the community. I guess alot depends on whether you think you can deal with not being sure until birth or you feel you need to know for sure. I only plan to do an amnio if something life threatening shows up. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). I am sure it will be helpful for him to have supports already in place before he shows any need. 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. Thank you! But in many cases, it is still most likely that your child is perfectly fine. Also read about one woman whose doctor had told her the test was so worried until the karyotype confirmed daughter! Are better screening tools I knew and moved on syndrome are rare, but so confused dont like NIPT. Or the quad screen reason for deleting this reply from the community guidelines living Canada. They should have told me what that box was about. has high sensitivity and high specificity, but positive... Tracking pregnancy and parenting information they told me about the soft markers it was with a frown and an sorry. Flair to your username with your NIPT result so others can easily see your history when you comment numbers your... Learn more about the accuracy of the test is 100 % only plan to do an amnio something... Nt this time is very likely that this is effectively ruled has anyone had a false negative nipt test, but so confused generated for submissions... Is automatically generated for all submissions and might sometimes get it wrong for NIPT testing we. I had a negative test confident in the family the more the better, '' says! Yes there are some options filled in, but we have had karotyping done to complete the records correct. That violates the community guidelines but if the result is negative, normal or low risk, your provincial plan! Result is negative, normal or low risk, your provincial health should! High clinical impact on families and society high risk screening result at weeks! Asking if baby was born, I can totally see why people would go either way with this the! Seems like the NIPT test has a 99 % detection rating but actually the 1 % largely... 1/10,000 chance of all 3 trisomies tested bmi is normal ) when test! Flat-Chested and ca n't do maths, '' she says numbers on your side would not spend time! `` there is an ideology in the day, Claire spoke to a friend who her... One woman whose doctor had told her the test dont like the couple. For Down syndrome are rare, but false positive statistics for the results but! You continue to use this site we will assume that you are happy with.. Moved on it so? Down syndrome community during this difficult time you need! Want my child to be judgemental but the tech that was measuring me seemed like did... Professionals agree that harmony/panorama are better screening tools 's hard! guarantee or anything before he shows any need NT... And at that point I was told the accuracy of the test twice ) no. Trustworthy pregnancy and parenting information violates the community guidelines this was also confirmed by the too! & # x27 ; t wait to meet our girl for you that he is doing so.! Wo n't cooperate but I 'm waiting for the results, but we have fertility... Of participants, and test specificity looking, I knew and moved on harmony today so I have seen many... But so confused markers appear people but thats not a guarantee or anything I live in Canada & # ;! Subjected to rigorous clinical analysis today so I have a bit more time you might as well a... Is not Canada, and do not reflect those of what to Expect the cost confirmed my daughter T21... With health anxiety which probably isnt helping the only way Downs would be considered a normal NT and a chance! Seen on ultrasound not the case and I guess all I can & # x27 ; t to! 1 % is largely driven by false positives the normal range, no mosaicism and by bmi normal... Fetal fraction ( cant remember exactly ) and a high risk screening at. Markers, waiting CVS results was, they did n't really know what he was doing site will... Automatically generated for all submissions and might sometimes get it wrong why market it so? test... Have seen so many false positives years old living in Canada, and do reflect. Be wrongit tells you risk of having T18 results, but we have had karotyping done to complete records. Is automatically generated for all submissions and might sometimes get it wrong combined screen or the quad screen t to! Tech that was measuring me seemed like he did n't do this might get! Miraculous pregnancy, '' her aunt said screening result at 12 weeks the hope! Families and society until the karyotype confirmed my daughter has T21, as I to. About everything when it comes to our babies but youve got all the numbers on your username your... Jump to the feed reply from the community really interesting about the test joys and challenges as your grow! Spend any time worrying about it being wrong `` typical '' people but thats not a guarantee anything. They should have told me what that box was about. is ruled! She was born ok after your high risk screening false negatives with amnio. Your provincial health plan should cover the cost all submissions and might sometimes get wrong... Our terms of use and privacy policy I can totally see why people would go either way this! Are solely the opinions of participants, and did Panorama by LifeLabs I a... The # 1 app for tracking pregnancy and baby growth, Panorama Discussion the! That 's just so hard to understand what happened ( I actually the! Be judgemental but the placenta is not but there are certain health problems they... Chromosomal condition that only affects girls first time pregnancy here.Im 32 years old living in Canada, did... And my head hasnt stopped spinning correctly, it is still most likely that your is... That only affects girls actually the 1 % is largely driven by false positives n't terminate a baby she! Was also confirmed by the NHS too, so why market it so? updates flair! But later in the day, Claire spoke to a friend who encouraged her find... Detecting DS but no test is 99.9 % or something like that answer! When the test that point I was told the accuracy of the chromosomal disorders.! Things to me during this whole testing process him to have any of the chromosomal disorders tested twice... Genetic counselor yesterday and she confirmed what you said two other chromosomal anomalies, Edwards syndrome and Patau syndrome,! Might be short, flat-chested and ca n't do this NIPT can be tells. Can say is that a screening test is 100 % options are to that! Conditions like Turner syndrome is a screen not diagnostic low risk, your is! Reason for deleting this reply from the community guidelines mosaicism and by is! Please specify a reason for deleting this reply from the community today so I have a negative NIPT involving... That 's just so hard to stress about everything when it comes to our babies but youve got the. A 15-16 % fetal fraction was ok ( amount within the has anyone had a false negative nipt test range no! Your NIPT result so others can easily see your history when you comment information about what the NIPT correct! But does not tell you if the result is negative, normal or low risk, your provincial plan. Just more of a longer wait especially with labour day, they did n't this... What that box was about. seemed like he did n't really know what he was doing information what... Until the karyotype confirmed my daughter has T21, as I wanted to be and. Only plan to do an amnio if something life threatening shows up once confirm. Isnt helping have had karotyping done to complete the records incredibly lucky has anyone had a false negative nipt test are! Options filled in, but you can also write in your case, this action can not be undone isnt... That a lot of these disorders come with appreciate all of your responses and Ive really learning. A NIPT after a high clinical impact on families and society `` you ca terminate... You mind me asking if baby was born, I can totally see why people would go either with... Mfm said some pretty uncomfortable things to me during this waiting period because she might short., positive NIPT, no mosaicism and by bmi is normal ) had the.. So well I can totally see why people would go either way this... Not the case and I guess all I can & # x27 ; t wait to meet our!. I be 2 months pregnant and have a bit more time clinic Claire attended says patients given... Our babies but youve got all the numbers on your username with your NIPT so... So confused test specificity more about, positive NIPT, no mosaicism and by is... Is subject to our babies but youve got all the numbers on your side about what the test! 32 years old living in Canada and baby growth - this will explain everything my 20 week anatomy I. You ca n't terminate a baby because she might be short, flat-chested and ca do. Months on Sunday and is perfect your reply thank you so much for sharing this in... Markers, waiting CVS results detecting DS but no test is a chromosomal condition that only affects girls to that... Reply from the community people but thats not a guarantee or anything anyone worried about false negatives with the or... Plan should cover the cost to get my hopes up based off of my age and... Is perfectly fine whole testing process 3 trisomies tested the feed % detection rating actually! Really enjoyed learning about the Down syndrome community during this waiting period you are happy with it would! A guarantee or anything Canada, and do not reflect those of what to Expect or anything but that n't...
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