Hopefully the scan with the MFM will shed more light. I didn't want to know the gender but my husband did, so I thought, 'All right then. Has anyone had negative results on their NIPT test everything normal but had a bad anatomy ultrasound at 20 weeks I'm scared they say my babies hands are clutched and they can't see he's toes and 2 spots that are dilated on this brain! Thanks, that is really interesting about the mosaic DS. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. Is that what you're referring to? Right now we have a 1 on 20 chance of DS that's why we did the harmony. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Apparently my doctor was given that information, but didnt look at it. That makes sense. "She is healthy, beautiful and full of smiles.". Omg we are in very similar boats. @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. 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. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. I'm sure that was a shock at birth! In this case I would have a CVS as soon as possible to confirm so you can TFMR. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. The GC said that we should not have even seen the quad screen results. i know, im just saying people with ds are healthy! All prenatal screening is optional. I understand its a very accurate test, but not 100%. This message is automatically generated for all submissions and might sometimes get it wrong. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. Although I agree that harmony/panorama are better screening tools. Read about our approach to external linking. That's just my personal experience tho, I can totally see why people would go either way with this. Can you share what your third trimester amniocentesis was like? "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.". 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. our test came back negative across the board. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. 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 never heard of mosaic until I started researching reasons for false negative NIPT results. Wishing you good results. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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. Was it elevated at all? 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. Yes, it is possible. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. 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. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. "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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. We decided to do NIPT which after the longest week of my life came back low risk. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! 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. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). I only did the harmony today so I have a bit of a longer wait especially with labour day. Please contact the moderators of this subreddit if you have any questions or concerns. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. She had DS and that was the least of our worries. had the result before 30 weeks, so have had time to process, which is good I think. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. I need to take control and stay positive! I would try not to worry about it (I know thats easier said than done). 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. soft matkers are common. I was told the accuracy of the test is 99.9% or something like that. Had to TFMR at 22 weeks. "It was this miraculous pregnancy," she says. False negatives are a lot rarer. Just wondering if anyone knows what the chances of a false negative with Panorama would be. 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. Update from my end. 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. She signed up for the test at a private IVF clinic. 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. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. 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. 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. 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. 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. 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. But in many cases, it is still most likely that your child is perfectly fine. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. 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. 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. I honestly think that if I had the Harmony after the ultrasound, Id be calm? And the only way to check for that is an amnio. by ; March 30, 2022 ; nano bank board of directors; 0 . I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? 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? False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. Please specify a reason for deleting this reply from the community. They recommended I do the CVS, which I did that same day. 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. , Thank you for your reply! I took Harmony early in my pregnancy because Im 36. So many people told me it would most likely be a false positive because I had normal scans. thats brilliant, some mosaic kids have very little issues. I never even knew there were different types of Down syndrome. 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Our dating scan showed a normal NT measurement and risk factors were low. Thats wonderful! She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. Though for women who have had fertility support, an earlier ultrasound may be done. I started saving them if you are interested I can send them to you. I think they are very rare and I would less likely believe the test if there were clear indicators. 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. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. 31/08/2021 12:14. And when she did, she found that her result might not be as troubling as it seemed. However, my husband is a structural biologist and has of course studied some of the genes that are missing. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Hope that helps a little?? 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. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. If the sonos are normal I always ask people wait for an amnio. 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. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. The advertise a very low false positive rating but don't mention the false negatives. 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. 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. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. Okay. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). Create an account or log in to participate. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. It also talked about the test's reliability. He has brought so much joy to our lives. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. My midwife recommends it for all AMA patients. I didnt know to ask about that and figured I would be retested if it was low. Still at a loss about what to do for the best, Claire called her aunt. Create an account to follow your favorite communities and start taking part in conversations. 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. You got this mama x, Hi. i did the materniT genome test and was told it was 86% accurate. 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. A test result can sound like a near certain diagnosis when the test says it's 95% accurate. We strive to provide you with a high quality community experience. 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. Still, I think the tests err on the side of caution so as to cut down on those surprises.. Yes, I had a negative NIPT and a birth diagnosis of DS. 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. Thanks for your reply! I guess my concern is that really only an amino can give you a conclusive answer. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). The #1 app for tracking pregnancy and baby growth. I snapped a photo of the ultrasound report and researched it myself. apparently they suck at looking for anything other than trisomies. 2005-2023Everyday Health, Inc., a Ziff Davis company. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. Group Black's collective includes Essence, The Shade Room and Naturally Curly. I completely agree with you. do some research, you will see. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. britain 90%sorry im going in a rant! 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. I have been told that they arent 100% but can feel pretty confident in the NIPT. I am a bot, and this action was performed automatically. Xx, Hi. FISH results after she . iceland is 100%. I live in Canada, and did Panorama by LifeLabs. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. We have been heartbroken for the past 48 hours after hearing this diagnosis. 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. Human chorionic gonadotropin (HCG), a hormone made by the placenta I completely understand and my head hasnt stopped spinning. The Papp-A came back normal. 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. Group Black's collective includes Essence, The Shade Room and Naturally Curly. This educational content is not medical or diagnostic advice. They are testing my husband now. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. 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. You know that. I know of a family who had a false negative. Is that true? (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Statistics are misrepresented every step of the way with NIPT and this is normalised. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. 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. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. PLEASE READ THESE LINKS - this will explain everything. How are you doing now? hence false negative on nipt through materniT21. I got the FISH results from my CVS back already, and it is also negative. LO is 6 months on Sunday and is perfect! 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. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. 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. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. We are very similar. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Does he have low muscle tone, its great to have a physio keep a regular check on development. 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. So far his muscle tone is pretty good. This updates the flair on your username IN THIS SUB ONLY. is anyone worried about false negatives with the harmony or panorama test.
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