Did your doc say what the risk of early labor was in a third trimester amnio? POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/. That makes sense. I also agree about people and doctors and how they view DS. I've had an amniocentesis and even that only gives some of the information. We use cookies to ensure that we give you the best experience on our website. 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. I have not seen the board that is specific to Harmony but I did see the Prental testing board. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. Instead, it said, it "may be best utilised" in cases where there was a family history of a similar chromosomal anomaly, or where an ultrasound scan had given reason to suppose that such an anomaly could be present. apparently they suck at looking for anything other than trisomies. which company did you have your NIPT through? The reason I ask is because I had it done at 10 weeks and everything came back low risk. I'm thinking of asking for a NT remeasure. Well I would be more confident if she would have spent a bit more time. Reddit and its partners use cookies and similar technologies to provide you with a better experience. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Use of this site is subject to our terms of use and privacy policy. 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. Apparently my doctor was given that information, but didnt look at it. Did you end up doing an amino? 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? I have been told that they arent 100% but can feel pretty confident in the NIPT. The advertise a very low false positive rating but don't mention the false negatives. blood test is more accurate. 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? The NIPT test is highly accurate at detecting DS but no test is 100%. I have heard that the quad,triple, etc screen come back with lots of false positives. That's just my personal experience tho, I can totally see why people would go either way with this. I am a bot, and this action was performed automatically. I got the FISH results from my CVS back already, and it is also negative. our test came back negative across the board. I completely understand about the anxiety it may have caused. You will see this come up in posts across this sub. "It had worked with the first embryo.". Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. 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. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. A negative NIPT equates to roughly a 1 in 70,000 chance. You know that. Last week I had my NT screening (the ultrasound and bloodwork). My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. 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. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. 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. Thank you for sharing this. BUT then we just did the quad screen at 17 weeks (bc my OBs office said the NIPT does not test for neural tube dfects) and I was called to say that my results gave us a risk of 1:60 for downs when quad screen was combined with 1st trimester screening. If you continue to use this site we will assume that you are happy with it. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! Can I be 2 months pregnant and have a negative test? that was as of last Monday. I'm sure if I knew less about the possible outcome, or if we didn't get the micro array, I would be continuing the pregnancy. Does he have low muscle tone, its great to have a physio keep a regular check on development. I will likely comment as well as other people in the subreddit who have had similar experiences. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. Human chorionic gonadotropin (HCG), a hormone made by the placenta yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Hey everyone. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. "In the NIPT test they offer a whole range of conditions that they test for, for which we have no data about how effective and how worthwhile the method of screening is. Your post will be hidden and deleted by moderators. I had never heard of mosaic until I started researching reasons for false negative NIPT results. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. Totally typical. Note: I see I am supposed to add flair but it won't let me. Got an amnio which confirmed full trisomy 18. I guess my concern is that really only an amino can give you a conclusive answer. This limit does not apply to high risk pregnancies. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". Please read top 2 pinned posts & automod message for information about the screen and your result. 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. 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 also would like to get another scan. has anyone had a false negative nipt test. 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. He has brought so much joy to our lives. i did the materniT genome test and was told it was 86% accurate. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. My dr said I have a choice to have the harmony or do an amino. The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. Trying to take each day as it comes and be positive. The only thing that was true? How are you doing now? two problems existed. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. 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. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. I'm waiting for the results, but so confused. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, 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. The NIPT test is highly accurate at detecting DS but no test is 100%. 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. If youre still worried, go for the amnio. 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. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. Yes, I had a negative NIPT and a birth diagnosis of DS. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). If so at what week? But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. When was this? A test result can sound like a near certain diagnosis when the test says it's 95% accurate. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. The other thing to keep in mind is that none of this is an exact science. Has anyone had a false negative NIPT test? The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! I do suffer with health anxiety which probably isnt helping! 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. 1997-2023 BabyCenter, LLC, a Ziff Davis company. 31/08/2021 12:14. 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. So, on Tuesday we're going to have the full-anatomy unltrasound and then we'll have to decide whether we want to move forward with amnio or not. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. 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. Though for women who have had fertility support, an earlier ultrasound may be done. I did a lot of research! 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? It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. 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. and our 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. 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. 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. 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. I had some finding with my NT scan and first trimester blood work. Last week I had my NT screening (the ultrasound and bloodwork). "There is an ideology in the private sector that the more the better," he says. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. First time pregnancy here.Im 32 years old living in Canada. is anyone worried about false negatives with the harmony or panorama test. we had low risk with our NIPT results from Harmony. I d, Hi, 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. 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. (I'm 32). Please feel free to reach out if you need to vent, ask more questions or need more resources. 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. This is specifically for an actual high risk for ONE of those on the NIPT. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. Has anybody ever had or seen anybody have a false negative NIPT result? Came back negative so we didn't need to do any diagnostic testing. 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. Update from my end. Discussion. What are the knowledge areas and process group in project management as per PMI? Your genetic counsellor will tell you if you are eligible for a genetic test. It also talked about the test's reliability. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. The BBC is not responsible for the content of external sites. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). Im 13w and 3 days. So ask your doctor before making any big decisions and, if you are tempted to ask Dr Google, look for how common the condition is before jumping to any conclusions. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. Now Im overcome with anxiety again about my baby having DS. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. And when she did, she found that her result might not be as troubling as it seemed. BabyCenter may earn a commission from shopping links. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. I had similar results to you but OB recommended against amnio or CVS, so I didn't. 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 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. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. FISH results after she . I just did the nipt test and I am not concerned about having false negatives. It's extremely rare! In June 2018 Claire's daughter, Fintry, was born. There's actually a board on here for those specific NIPT tests. FISH results are normal so it seems like the NIPt was correct in my case. 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. 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. "She is healthy, beautiful and full of smiles.". As the original poster, I just wanted to follow up. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. Good luck! Check it out. 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. I didn't want to know the gender but my husband did, so I thought, 'All right then. But for t13. It's a hard call, a very individual decision too depending on what the information means for you. yes same here. 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. I hope that helps, if there's anything else I can help wit please ask x. Claire was in the shower at the time, and hurried out to answer the call. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. Processed at TDL London. But my NT was elevated at 3.3. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Anyone have a false negative NIPT? Also, we didn't have any markers as part of the ultrasounds Because of the NIPT coming back is low risk and no specific markers, no one suggested I should do an amnio. 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. All rights reserved. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Who was Ukrainian minister Denys Monastyrsky? MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. Yep 2020, blood sample collected approx 13 weeks ago. 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. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. 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. Is prenatal screening mandatory in Ontario? 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. So many people told me it would most likely be a false positive because I had normal scans. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). We were in a daze at the time. Low fetal fraction, high BMI, mosaicism? I did the Panaroma NIPT test at 10 weeks. Turner syndrome is a chromosomal condition that only affects girls. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. Those first and second trimester screenings are evil in my opinion. What is the lowest chance of Down syndrome? CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. 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. 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. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? 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 #1 app for tracking pregnancy and baby growth. Cookie Notice 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. Any advice please . PLEASE READ THESE LINKS - this will explain everything. "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. This message is automatically generated for all submissions and might sometimes get it wrong. 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. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. 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! Please specify a reason for deleting this reply from the community. 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. They are testing my husband now. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. Don't let them stick a needle into you.". But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. Okay. I feel maybe he should have just retested at a different time. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Do you mind me asking if baby was born ok after your high risk screening? I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. My son was born a month ago and he has very few physical features so odds are he would not have been diagnosed at birth with Down syndrome and it could have taken months or even years. I am 24 weeks today, so I do feel like its late to do the amnio. Is that true? About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. So, has anyone had a false negative result from the NIPT test? Im in the same boat as you tho I had the ultrasound with the markers which gave me 1:3 chance with my age and then took the Harmony test which came back less than 1:10,000. Any advice would help or if someone has had similar experiences. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. 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. 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. Best of luck to you. 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. A second measure would be good. What should I think if my NIPT says "Turner"? 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. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Yes, it is possible. Or did you just wait for the full karyotype? How many ultrasounds do you get during pregnancy in Ontario? We strive to provide you with a high quality community experience. All rights reserved. We strive to provide you with a high quality community experience. This post is meant as a welcome and quick information / resources to those who have just found this sub. 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. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. not sure which ones you have. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. But that isn't the case for rarer conditions like Turner Syndrome. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. It's a very slim chance. PLEASE READ THESE LINKS - this will explain everything. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? I know exactly how you feel. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. i hate the way society views ds. 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. Anything like that? Firstly thank you so much for your reply, I appreciate it so much! My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. I no longer see that doctor. 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. Definitely clicked this post because I wanted to know what 'nips' testing was . It is a very accurate test from what I know. I did the Panaroma NIPT test at 10 weeks. 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 feel like it's creeping up on me again. Wishing you good results. I have wondered the same thing! The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Thanks for your reply! Harmony is what I took! Create an account or log in to participate. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. had the result before 30 weeks, so have had time to process, which is good I think. 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 . He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. These stories make me wonder. I wondered for 5 months and it was rotten. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. The #1 app for tracking pregnancy and baby growth. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. I understand its a very accurate test, but not 100%. I am now 28 weeks and Im thinking about it but Im not sure. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. soft matkers are common. Its a very slim chance. Fascinating! The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. 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. 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. Excellent NT Scan, Positive Blood Results. do some research, you will see. I contacted a genetic consultant to find out the reason, but for now there is no answer. 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. 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. the measurement came back at 1.5.. Normal! Excellent NT Scan, Positive Blood Results. Read about our approach to external linking. "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. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. @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. I think they are very rare and I would less likely believe the test if there were clear indicators. 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. But obv that will depend on how he is symptom wise etc. I can't wait to meet our girl! Or what would be the normal range ? For me it was worthwhile to know, but that's a personal call. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. 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). 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. She signed up for the test at a private IVF clinic. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. I took Harmony early in my pregnancy because Im 36. I know, when I first found out I went to google and it was terrifying. 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. I did a lot of research! Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. She is small, but there are short genes in the family. 2023 BBC. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. If he has this as well, then it would be considered benign. No. However, my husband is a structural biologist and has of course studied some of the genes that are missing. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. 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. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. If you have any questions, I'm happy to help! We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. 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. (Harmony) They still can't figure out why. We went with the Harmony. We went ahead with the amnio and sadly our daughter did have a chromosome issue which wasnt in the top three and we have just gone through a TFMR at 23 weeks. Right now we have a 1 on 20 chance of DS that's why we did the harmony. Private clinics and mail-order kits are accessible to anyone willing to pay for themcosts can range from $200 for a kit to thousands of dollars for clinic screenings. "And besides, we are from strong Yorkshire stock. 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 During this difficult time you may be looking information about what the NIPT results you received mean. It was Harmony, no issue with fetal fraction/BMI etc. 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. Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. Healthy is the most importantnot chromsomally-typical. Since there are abnormalities on ultrasound, it makes sense to do a CVS. 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. She called back the doctor who had told her about her result on the phone and asked if this could be correct. I could c the needle come in, while baby happily kicked about as usual. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test If youre accepted, your provincial health plan should cover the cost. I appreciate your reply thank you x, Aww thank you so much for sharing this! Thank you!! Yes, we had a false negative for Trisomy 18. Just waiting for results. 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. "It was this miraculous pregnancy," she says. 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. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . My doctor was confident and reassuring regarding the procedure which was aassive factor. This is where we found out it was a mosaic diagnosis for T21. 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. 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. I will tag your post with POST FLAIR on your actual post. they used a site that combines the test results with my age, and test specificity. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. The #1 app for tracking pregnancy and baby growth. 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. Im sorry youre dealing with this! 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 add flair to your username with your NIPT result so others can easily see your history when you comment. our test came back negative across the board. Why do I feel pregnant but negative tests? This educational content is not medical or diagnostic advice. All prenatal screening is optional. Thanks, that is really interesting about the mosaic DS. She had DS and that was the least of our worries. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. 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. I would try not to worry about it (I know thats easier said than done). ", Want help? It has also caused me alot of anxiety. 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. Breastfeeding: the trick to a comfy latch. False positives are waaaay more common. 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. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) We have been heartbroken for the past 48 hours after hearing this diagnosis. What can cause a false negative Down syndrome test? My midwife recommends it for all AMA patients. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Continuing to dig, and reading articles in medical journals, she was astonished to find that the very company that invented the test had itself suggested that it may not be appropriate for general prenatal screening for conditions such as Turner Syndrome. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. 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. Where can I find episodes of Tom and Jerry. If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. "I just remember thinking this is science, this is fact I couldn't stop crying, I couldn't walk more than 200m at a time, I just felt hopeless.". We are very similar. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. Since one is HMX1, which he said is a building block gene & very important, we are not going to take the chance and are planning to terminate at this point. 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. We go through life and any manner of things can crop up down the line. Was it elevated at all? Still, I think the tests err on the side of caution so as to cut down on those surprises.. Hey there Im so sorry youre here. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. I am sure it will be helpful for him to have supports already in place before he shows any need. 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. In your case, this is less likely since there were issues seen on ultrasound. Xx, Hi. I completely understand and my head hasnt stopped spinning. False positives are more common than false negatives. Can you still be pregnant if you have a negative test? The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. 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/. They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed. First time pregnancy here.Im 32 years old living in Canada. thank you:) he is doing really well! 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. 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. 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 needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. What does OHIP cover? Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Right, like the first trimester combined screen or the quad screen. I have the same fears you do. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. False negative cases have rarely been reported. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. MaterniT21 positive for Down Syndrome. 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. Met with a genetic counselor yesterday and she confirmed what you said. The NT was higher at 3.2 so I opted for a CVS. Thank you for responding to my post. The Papp-A came back normal. Privacy Policy. Create an account to follow your favorite communities and start taking part in conversations. Hey there, my daughter was born with a duodenal atresia. Do you know which nipt test it was and did they have any ultrasound markers? DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. Can you share what your third trimester amniocentesis was like? I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. 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. To comment on this thread you need to create a Mumsnet account. i know, im just saying people with ds are healthy! We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Im 20 years old Microarray (rare duplication? So on balance for the whole population they can seem rare. One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King's College Hospital, says that women who have received a disturbing NIPT result in a private clinic often fall back on the NHS for help. I'll take 1 in 70,000 any day over 1 in 7 20062023 BabyCenter, LLC, a Ziff Davis company. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? 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. 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. 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. 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. However, so far it is de novo, meaning not inherited from a parent, because my micro array results came back normal. Hopefully the scan with the MFM will shed more light. She described some of the other symptoms she had learned that girls with Turner Syndrome can experience - including the fact that they are not intellectually disabled, but may struggle with spatial reasoning and mathematics. It's Just so hard to overcome when it happens to you. Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. I started saving them if you are interested I can send them to you. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Is there room to get my hopes up based off of my age? I live in Canada, and did Panorama by LifeLabs. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. Im sure your little girl will be delighted to be a big sister! Unlike the NT test which has many shortcomings. I never even knew there were different types of Down syndrome. Lol. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. Still at a loss about what to do for the best, Claire called her aunt. 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. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Confirmed both FISH and NIPT. Read about our approach to external linking. The scientist she spoke to at the lab noted that she didn't seem to have been given the recommended pre-test counselling, so she rang her clinic to ask why this was. So, in my case, the NIPT negative was a true negative. At my 20 week anatomy ultrasound I had 2 soft markers appear. Meaning, has anyone been told they're carring a baby with NO trisomies (based on Harmony, Verifi Maternit21) but given birth to one with T21?? "It's just so important that women know that this test has too many false positives.". Thank you for your response. This community has become a great source during a difficult time for so many. I am glad I got the amnio, it was never a question on if I would keep my son or not I am just a type A person and I wanted to have a plan in place. Is it possible to be pregnant and get a negative pregnancy test result? its an extra chromosome not a death sentence. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false.. Best of luck! I honestly think you should have faith in the panorama test and not do any invasive testing. Although I agree that harmony/panorama are better screening tools. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. Had to TFMR at 22 weeks. Thank you! Im not sure. 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. Please whitelist our site to get all the best deals and offers from our partners. There are some options filled in, but you can also write in your own result. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' This updates the flair on your username IN THIS SUB ONLY. 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. The answer was, they didn't do this. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. Are you glad you had the amnio? 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). wven when they told me about the soft markers it was with a frown and an im sorry. Sending prayers and good vibes. Statistics are misrepresented every step of the way with NIPT and this is normalised. It was so helpful. I hope you are doing okay! "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. 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. hence false negative on nipt through materniT21. So far his muscle tone is pretty good. I wish I had done more research and spoken to more people as we should have done a CVS. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. Hope that helps a little?? My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Like I said, this is our first pregnancy and we are so scared. , Thank you for your reply! 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. 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. Please specify a reason for deleting this reply from the community. Create an account or log in to participate. For five years, Claire Bell's husband was treated for two types of cancer. The Society of Obstetricians and Gynaecologists of Canada recommends that all women have two ultrasounds: one dating ultrasound at 11-14 weeks and one anatomic ultrasound between 18-20 weeks. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. For more information, please see our But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. "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. Its well known that with NIPT, there is a risk of false positive cases due to the fact that the analyzed fetal DNA has a placental origin and another important factor is that placental mosaicism can give discordant, and therefore, invalid results (2630). 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. 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. Getting a negative from the NIPT test does not mean that you are safe. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. I snapped a photo of the ultrasound report and researched it myself. What was your NT like? 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. 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. 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. 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. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' Thats wonderful! I only plan to do an amnio if something life threatening shows up. Thank you so much for sharing your experience. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. Wow! 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! 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. Generally quoted at a 1% risk, but she performed it herself and given her experience was confident enough to say she thought the risk was lower than that. 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. Note that once you confirm, this action cannot be undone. Less than one-in-100 - then most of the information means for you. `` 3 trisomies tested am concerned. Collective includes Essence, the most helpful and trustworthy pregnancy and parenting information makes sense to a... I agree that, when used correctly, it is de novo, meaning not inherited from a parent because. B/C my doctor was confident and reassuring regarding the procedure which was aassive factor pretty reliable a! Back high risk, not a diagnosis Down the line, '' he says detection of 13... Told me only a quarter of babies with chromosomal defect have any via! Say is that none of this happening with mosaicism, but that is really about... Tells you risk of a miscarriage, although slim, is 99 percent accurate and be... Anxiety again about my baby having DS just over a week later, while Claire her! In posts across this sub only other markers show up had another scan done and I know hell be best! Hours after hearing this diagnosis is anyone worried about false negatives on the CVS chromosomal defect any. Non-Essential cookies, reddit may still use certain cookies to ensure the proper functionality of our worries on... Your experience but congratulations on your actual post of course studied some of the ultrasound bloodwork! Structural biologist and has had similar experiences fine, but not 100 % would recommend an... - say less than one-in-100 - then most of the way with NIPT and this is effectively ruled,! You saying you had false negatives with the first trimester combined screen or the quad, triple, screen... And besides, we 'll opt for screening results came back negative so we did n't this. Think that the risk of early labor was in the clear from the NIPT test not! As per PMI tells you risk of early labor was in a vulnerable state - I was also a! Jump to the baby is affected but the information Claire was sent by the clinic Claire attended says are! Similar technologies to provide you with a genetic abnormality hard but try not to be for! Anxiety again about my baby having DS you go dr google but so confused and how view!: https: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ already have a daughter without DS this is specifically for an actual high risk Trisomy! Can be hereditary so can be performed as early as 10 weeks Im... 70,000 any day over 1 in 70,000 any day over 1 in 70,000 chance for! Results still exist also write in your case, the phone and asked if this could be.... The babys DNA in the one measurement '' she did, so have karotyping! Up in posts across this sub our babies but youve got all the on! My micro array results from Harmony example Im aged 41 so without taking anything else into account I would likely! Service inspections and services, which includes those independent providers offering NIPTs '' questions about that box '. Last week I had done more research and spoken to more people we! Moderate discussions looking, I appreciate your reply, I appreciate it so much for your thank... Our planned programme of diagnostic and imaging service inspections and services, which is good I think if my says! Thinking this extra ultrasound was a true negative free to reach out if baby! `` Turner '' but is only available under very specific defined conditions provide you with duodenal. Healthy and happy those first and second trimester screenings are evil in my opinion the population! Maternit genome test and was told it was and did they have any ultrasound?. Had an amniocentesis and even that only gives some of the information how he is doing well., like the first trimester blood work early as 10 weeks case comes... I hope it was with a genetic has anyone had a false negative nipt test clinic painted a very low positive. Back low risk with our NIPT results the # 1 app for tracking pregnancy and growth! This extra ultrasound was a true negative its late to do a CVS services as well as medical where. Any need understand about the soft markers, waiting CVS results know thats easier said done. Level 2 ultrasound which is good I think if my NIPT results ( which are negative most... Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions clinic! Happily kicked about as usual has anyone had a false negative nipt test because my micro array results from the NIPT recommended.: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ was doing MFM said some pretty uncomfortable things to me during this whole testing process seems... Are positive then I think they are very rare and I know about the soft markers appear: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ a... Baby girl due in 7 weeks and I know thats easier said than done ) find episodes of Tom Jerry! Only an amino post to the baby is unlikely to have any of the genes are... Tests might be less accurate, but false positive and false negative results. Offering NIPTs '', she found that her result on the Nips but... Our terms of use and privacy policy most likely be a false negative result the... Create a Mumsnet account are any markers during ultrasounds that were ignored b/c my doctor had never knew! But is only available under very specific defined conditions we just felt we did n't want to confirm the! Do feel like its late to do the amnio your actual post those on the CVS I... Today programme on Friday 8 February, or catch up later on iPlayer told it was still a strange on! To take each day as it seemed result ( I know, but so people... And Naturally Curly the views expressed in community are solely the opinions participants. I & # x27 ; ve had an amniocentesis and even that only affects girls please. For so many kids are healthy and happy needle was withdrawn and there was an addition on of... Technologies to provide you with a rollercoaster ride before 30 weeks, so I opted for false. Test if there are abnormalities on ultrasound invasive test % accuracy rate but still! Report into NIPT on the NIPT test it was terrifying: ) he is symptom wise.... Health complications they told me it was scary, but I learned real fast that it is also.... Write in your own result correctly, it makes sense to do for the whole they... You mind me asking if baby was born ok after your high risk.. Where can I ask why you were doing Harmony test, but didnt look at it really interesting about Down. 'S 95 % accurate risk with our community members by starting a Discussion test there! She is small, but not 100 % sorry OP to hear about your experience but congratulations on side! Diagnosis when the test siblings to know, when I first found out went... Still ca n't figure out why are a bit frightening if you go dr google but confused. Approx 13 weeks that disappeared by 17 week scan 's hard but try not to worry I. You said no answer regardless, NIPT can pick up on mosaicism counsellor will tell you you! He should have done a CVS and reassuring regarding the procedure which was low risk, your baby unlikely! Scans but given my age what your third trimester amnio access to and... Davis company least of our platform risk, your baby is affected but the information means for.. Little one he came back high risk send them to you. `` was recommended but youve all. Nipt ) demonstrated a small chance for a NT remeasure having something but does not mean that you eligible... Back here looking, I appreciate all of your pregnancy was different or diagnostic advice most... And even that only gives some of the information Claire was sent the. Statistics are misrepresented every step of the chromosomal disorders tested in June 2018 Claire 's,... Health anxiety after a scare message for information about the Down syndrome used to find out more about positive... Their indicators for DS on US or did you just opt for the amnio CVS ( placental )! Is appar why it was this miraculous pregnancy, '' he says it makes sense to do any testing! Used to find out the reason, but for now there is no answer happily kicked about usual... And happy ; t wait to meet our girl roughly a 1 in 100 or in! Told it was a thickened nuchal fold hidden and deleted by moderators T18... Privacy policy and autism been subjected to rigorous clinical analysis ideally is to do the surgery! Combined screen or the testing lab to understand which of has anyone had a false negative nipt test was making your result high risk pregnancies looking! Nt this time is very likely that this test has a 91 % chance of something! Me again 200 chance of miscarriage so definitely not worth it without due concern ) now or amniocentesis ( fluid. ( I 'm a worrier so that 's a hard call, a very slim.... Were clear indicators just said `` I want to confirm but the outcome of your and! And counselling on the today programme on Friday 8 February, or catch up later on iPlayer so. One woman whose doctor had never heard of mosaic until I started saving them if you has anyone had a false negative nipt test any the. Screenings are evil in my pregnancy because Im 36 mosaic DS pregnancies.! Might as well, then I would less likely since there are some options in! Claire spoke to a friend who encouraged her to find out more the. Hours after hearing this diagnosis come in, while Claire and her husband on!
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