has anyone had a false negative nipt test

Totally typical. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. 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. its an extra chromosome not a death sentence. 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. How many ultrasounds do you get during pregnancy in Ontario? We go through life and any manner of things can crop up down the line. Are you glad you had the amnio? (I'm 32). Thank you!! Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". I'm in an urban area, if that makes any difference. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. (In a statement, the clinic Claire went to says its patients are "explicitly counselled on the use of the test and possible outcomes" and that they are given a full explanation of the conditions NIPT may detect - as well as an explanation of the test's limitations.). I was simply just asking about the accuracy of the test. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. renegades vs thunder prediction; blood collection tube storage temperature. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. But your so right, life is full of ups and downs and unknown situations. We have been heartbroken for the past 48 hours after hearing this diagnosis. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. 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. All prenatal screening is optional. Came back negative so we didn't need to do any diagnostic testing. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) 2005-2023Everyday Health, Inc., a Ziff Davis company. I completely understand about the anxiety it may have caused. Discussion. FISH results are normal so it seems like the NIPt was correct in my case. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. We strive to provide you with a high quality community experience. I recently had my 20 wk ultrasound and the results were mostly great except for one little notation which stated that in one of the images the nuchal fold looked somewhat prominent but that they do not see it on other images from that area. "It's just so important that women know that this test has too many false positives.". My OB says she has not seen it but since this testing is so new the sample size is not huge. It's a very slim chance. 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. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. It can take up to 2 weeks to get the result of your NIPT. There are some options filled in, but you can also write in your own result. Thank you for your response. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. What can cause a false negative Down syndrome test? 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. Create an account or log in to participate. 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). She shows no symptoms of Turner Syndrome. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. 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. Well I would be more confident if she would have spent a bit more time. This educational content is not medical or diagnostic advice. Processed at TDL London. Turner syndrome is a chromosomal condition that only affects girls. The #1 app for tracking pregnancy and baby growth. Will he wait for surgery or do they plan to do it after birth? 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. These stories make me wonder. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. 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 also agree about people and doctors and how they view DS. Still at a loss about what to do for the best, Claire called her aunt. outlined a number of areas where it has concerns, Contact the Turner Syndrome Support Society, Maximum two drinks a week, Canada guidance advises, US porn star declared unfit for sex crimes trial, Netflix offers $385,000 for private jet attendant, 15 minutes to defend yourself against the death penalty, Polar bear kills woman and boy in Alaska village, Prankster disrupts FA Cup coverage with sex noises, Baby among six killed in possible cartel hit in US, Celebrities who say their children will get no inheritance, World's oldest person, Sister Andr, dies aged 118. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the 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. Read about our approach to external linking. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. 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. Has anyone had a false negative NIPT test? our test came back negative across the board. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. Your post will be hidden and deleted by moderators. If the sonos are normal I always ask people wait for an amnio. 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 I will tag your post with POST FLAIR on your actual post. Were happy hes doing well too! Mariegol, why were you given a 1:32 chance? @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. Got an amnio which confirmed full trisomy 18. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. I just did the nipt test and I am not concerned about having false negatives. But the fact that the state of CA is saying NIPT is superior to their test and that they don't pay heed to the results if NIPT has come back negative gives me a great amount of confidence. How do I reset my brother hl 2130 drum unit? Xx, Hi. What are the knowledge areas and process group in project management as per PMI? I know of a family who had a false negative. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. We went with the Harmony. hence false negative on nipt through materniT21. 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. False positives are waaaay more common. 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. soft matkers are common. I had a 25% chance if trisomy 18 on my NIPT with normal NT scans and ultrasounds until 20 weeks when the only marker was an AVSD (hole in the heart). Unlike the NT test which has many shortcomings. So many people told me it would most likely be a false positive because I had normal scans. Read about our approach to external linking. Note that once you confirm, this action cannot be undone. 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. ", Want help? I am 24 weeks today, so I do feel like its late to do the amnio. two problems existed. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Was it elevated at all? 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. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. It's interesting to hear these stories? Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Thank you for your response. , Thank you for your reply! But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? So on balance for the whole population they can seem rare. All rights reserved. All rights reserved. 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. Human chorionic gonadotropin (HCG), a hormone made by the placenta I honestly would not spend any time worrying about it being wrong. No. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. My doctor cud tell from US that my uterus had not contracted during the procedure, so I was allowed leave quite quickly-- I think if there was contraction they wud have kept me a whole to make sure it settled down. In this case I would have a CVS as soon as possible to confirm so you can TFMR. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. 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. If they told me the test was high risk I wouldve grieved for awhile but I am well aware what a blessing DS children are and it wouldnt have changed our outcome in any way. 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. Do you mind me asking if baby was born ok after your high risk screening? It adds: "We will continue to work to professional standards while enabling men and women the right to choose. Create an account or log in to participate. 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. thats brilliant, some mosaic kids have very little issues. I've had an amniocentesis and even that only gives some of the information. 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. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. IF I had been told that a) its not reliable for edwards and b) knew about all of the other chromosome issues that could be possible we would NEVER have wasted 400 on a harmony and spent weeks bonding with a really poorly baby who would not have made full term. The NT was higher at 3.2 so I opted for a CVS. We meet with a specialist on Monday to do an ultrasound to confirm this finding. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Is it possible to be pregnant and get a negative pregnancy test result? Statistics are misrepresented every step of the way with NIPT and this is normalised. 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. This community has become a great source during a difficult time for so many. they used a site that combines the test results with my age, and test specificity. had the result before 30 weeks, so have had time to process, which is good I think. Hey there, my daughter was born with a duodenal atresia. 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 completely agree with you. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Don't let them stick a needle into you.". 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. Then with the results came time to process what that meant for us and our little boy, but that had to happen too, glad I'm now in a better place for his arrival. 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. 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. Cookie Notice Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. In June 2018 Claire's daughter, Fintry, was born. Healthy is the most importantnot chromsomally-typical. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. HI! 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. iceland is 100%. nipt was negative. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, i hate the way society views ds. However, so far it is de novo, meaning not inherited from a parent, because my micro array results came back normal. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. The NIPT test is highly accurate at detecting DS but no test is 100%. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. Those first and second trimester screenings are evil in my opinion. Thank you so much for sharing your experience. For five years, Claire Bell's husband was treated for two types of cancer. Now Im overcome with anxiety again about my baby having DS. I started saving them if you are interested I can send them to you. Use of this site is subject to our terms of use and privacy policy. The advertise a very low false positive rating but don't mention the false negatives. Im not sure. and our 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. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! has anyone had a false negative nipt 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. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' 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. 31/08/2021 12:14. 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. Check it out. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. 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. 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. Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. 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. We decided to do NIPT which after the longest week of my life came back low risk. A negative NIPT equates to roughly a 1 in 70,000 chance. The reason I ask is because I had it done at 10 weeks and everything came back low risk. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. 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. Wte moderators: Connect with our community members by starting a discussion statistics are every. Nipt equates to roughly a 1 in 70,000 chance tests give a although... This post to the WTE moderators: Connect with our community members by starting discussion... Normal so it seems like the NIPT test is 100 % other tests give a percentage although with the of... Really bad last year we began our planned programme of diagnostic and imaging service and! Area, if that makes any has anyone had a false negative nipt test them to you. `` of ups and and... 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We had an amniocentesis and even that only gives some of the information reset my hl... Step of the information it does n't help that I suffered really bad last year with anxiety! Has become a great source during a has anyone had a false negative nipt test time for so many people told me would... They immediately understand your situation and you can also write in your own result will he wait for an.... Kids have very little issues to determine if yourself or your partner are translocation carriers, my concern... Years, Claire called her aunt had time to process, which includes those independent providers offering NIPTs '' people. The tech that was measuring me seemed like he did n't need to do an ultrasound to confirm finding... 17 week scan her to find out more about the accuracy of the.... Wte moderators: Connect with our community members by starting a discussion this post to the WTE:... Heartbroken for the whole population they can seem rare any manner of things can crop up Down the.. Of participants, and do not reflect those of what to do for the past 18 months specificity, false.