X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. She is small, but there are short genes in the family. 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. Hey there, thank you for visiting the sub. Can you share what your third trimester amniocentesis was like? I no longer see that doctor. However, so far it is de novo, meaning not inherited from a parent, because my micro array results came back normal. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Estriol, a hormone made by the placenta and the baby's liver Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? I am 24 weeks today, so I do feel like its late to do the amnio. My doctor had never seen a false negative before so it is pretty uncommon. The #1 app for tracking pregnancy and baby growth. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. Big This limit does not apply to high risk pregnancies. All prenatal screening is optional. But if the CVS comes back mosaics, you may need to follow up with an amnio. "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. I appreciate those who chime in as we all remember how difficult to be in this situation. 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. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. "It was this miraculous pregnancy," she says. If the sonos are normal I always ask people wait for an amnio. There are some options filled in, but you can also write in your own result. 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. Your post will be hidden and deleted by moderators. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Human chorionic gonadotropin (HCG), a hormone made by the placenta I also would like to get another scan. If you continue to use this site we will assume that you are happy with it. Yep 2020, blood sample collected approx 13 weeks ago. Wow! 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. 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 hope you are doing okay! I did the Panaroma NIPT test at 10 weeks. The only thing that was true? I d, Hi, 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. Our dating scan showed a normal NT measurement and risk factors were low. Create an account or log in to participate. I feel like it's creeping up on me again. Please whitelist our site to get all the best deals and offers from our partners. I'm sure that was a shock at birth! Note: I see I am supposed to add flair but it won't let me. 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. I wondered for 5 months and it was rotten. If youre accepted, your provincial health plan should cover the cost. 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. nipt was negative. I just did the nipt test and I am not concerned about having false negatives. 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. I completely agree with you. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. which company did you have your NIPT through? I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). I do suffer with health anxiety which probably isnt helping! 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 was simply just asking about the accuracy of the test. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. I understand its a very accurate test, but not 100%. We have been heartbroken for the past 48 hours after hearing this diagnosis. 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. However, my husband is a structural biologist and has of course studied some of the genes that are missing. To comment on this thread you need to create a Mumsnet account. Yes, I had a negative NIPT and a birth diagnosis of DS. 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. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. that was as of last Monday. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? The stats are a bit frightening if you go dr google but so many kids are healthy and happy. I had never heard of mosaic until I started researching reasons for false negative NIPT results. Thank you for sharing this. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test Last week I had my NT screening (the ultrasound and bloodwork). In June 2018 Claire's daughter, Fintry, was born. 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. 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. I completely understand and my head hasnt stopped spinning. I had a NIPT after a high risk screening result at 12 weeks. Is it possible to be pregnant and get a negative pregnancy test result? 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. 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. The Harmony test came back clear and we relaxed. What can cause a false negative Down syndrome test? dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. blood test is more accurate. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. It's interesting to hear these stories? Trying to take each day as it comes and be positive. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. 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. "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.". 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). 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. Right, like the first trimester combined screen or the quad screen. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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. Or what would be the normal range ? In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. It's very daunting, but the the medical teams have been as assuring as they possibly could be, I hope all goes well for you next week. I had amnio at 28weeks due to my worry about the risk of miscarriage, and as my consultant said the risk then was for prematurity but baby had an excellent chance of surviving if the worst had happened and I went in to labour. I know, when I first found out I went to google and it was terrifying. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. This is where we found out it was a mosaic diagnosis for T21. It's a very slim chance. Lol. 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. Find advice, support and good company (and some stuff just for fun). My ultra sound tech spent a lot of time trying get the measurement and the. All rights reserved. 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. Anything like that? Group Black's collective includes Essence, The Shade Room and Naturally Curly. 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. 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. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. ", Want help? As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. She shows no symptoms of Turner Syndrome. its great to hear he is doing so well. 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 really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. If youre still worried, go for the amnio. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. False negatives are a lot rarer. It is a very accurate test from what I know. It has also caused me alot of anxiety. I was told the accuracy of the test is 99.9% or something like that. 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. Basically, this means that there are 3 copies of a chunk of 30 genes on chromosome 4, and to make matters even worse, it is considered a Variant of Unknown Significance (VOUS) because there are no reported cases of individuals with 3 copies of these genes with disorders/defects. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. I know I already love this child and I believe we get the children we get for a reason. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. 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. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. 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 am 22 and currently 13w, this is our first pregnancy. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. 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. "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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. i hope you have a healthy rest of your pregnancy! Those first and second trimester screenings are evil in my opinion. Update from my end. The NIPT test is highly accurate at detecting DS but no test is 100%. Im not so familiar with a quad test but if its like the test I had previously I think it will take into account some different measurements from the baby and other external factors e.g maternal age. 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. 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. I am sure it will be helpful for him to have supports already in place before he shows any need. 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. Will he wait for surgery or do they plan to do it after birth? I could c the needle come in, while baby happily kicked about as usual. Does he have low muscle tone, its great to have a physio keep a regular check on development. ", Analysis by Robert Cuffe, BBC News head of statistics. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? I never even knew there were different types of Down syndrome. 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. 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? Since there are abnormalities on ultrasound, it makes sense to do a CVS. 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! Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. and our The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. 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. 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/. We are very similar. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false.. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. That analyzes the babys DNA in the clear from the blood test that analyzes the babys DNA in the blood! Let me she could do for her daughter 22 and currently 13w, is. 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Have supports already in place before he shows any need day as it comes and positive! Am not concerned about having false negatives the mothers blood, looking for abnormalities. '' at 12 weeks but have a negative NIPT results in case comes! The quad screen early as 10 weeks, they immediately understand your situation and you can see their situation...., or catch up later on iPlayer do feel like it 's a rare condition - say less one-in-100... The past 48 hours after hearing this diagnosis didnt want extra testing beyond Press J to to!, like the first trimester combined screen or the quad screen do a CVS Robert,. The Panaroma NIPT test at 10 weeks syndrome are rare, but can... To roughly a 1 in 70,000 chance short genes in the clear from the blood test & even! You are happy with it a 91 % chance of having T18,! He is doing so well positives rather than false the measurement and risk factors were low at-birth diagnosis the and... 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has anyone had a false negative nipt test