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. Right now we have a 1 on 20 chance of DS that's why we did the harmony. 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. 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. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Since there are abnormalities on ultrasound, it makes sense to do a CVS. I took Harmony early in my pregnancy because Im 36. 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. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Came back negative so we didn't need to do any diagnostic testing. 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. The GC said that we should not have even seen the quad screen results. 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. It's extremely rare! 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 am a bot, and this action was performed automatically. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. Now Im overcome with anxiety again about my baby having DS. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. Your genetic counsellor will tell you if you are eligible for a genetic test. I am now 28 weeks and Im thinking about it but Im not sure. I did a lot of research! Im 13w and 3 days. had the result before 30 weeks, so have had time to process, which is good I think. But this was not the case and I dont like the false hope is helpful. 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! not sure which ones you have. I think they are very rare and I would less likely believe the test if there were clear indicators. Excellent NT Scan, Positive Blood Results. Wow! Can NIPT tests be wrong? 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. If so at what week? We have been heartbroken for the past 48 hours after hearing this diagnosis. 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). I have heard that there are rare types of Downs that may be missed and account for the rare false negative. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. No. "There is an ideology in the private sector that the more the better," he says. Is there room to get my hopes up based off of my age? By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. We went with the Harmony. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. 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. Those first and second trimester screenings are evil in my opinion. 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. Big Interesting! It is a very accurate test from what I know. (I'm 32). 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. After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. 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. I snapped a photo of the ultrasound report and researched it myself. Hey there Im so sorry youre here. 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. 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. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). It was so helpful. 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. 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. We strive to provide you with a high quality community experience. There's actually a board on here for those specific NIPT tests. False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. I have seen so many false posi, Hey lovely, it's really tough and it sounds like you've had abad time too so understandable. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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. im glad you see the reality! How are you doing now? Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. 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. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' The #1 app for tracking pregnancy and baby growth. Thank you for responding to my post. 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. So far his muscle tone is pretty good. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. 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 views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. "And besides, we are from strong Yorkshire stock. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). I'm thinking of asking for a NT remeasure. Is that true? Good luck and stay in touch with your results! It's a very slim chance. 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. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. How many ultrasounds do you get during pregnancy in Ontario? I was told the accuracy of the test is 99.9% or something like that. its an extra chromosome not a death sentence. Sending prayers and good vibes. But was informed its not 100% we decided to wait until my 20 week scan everything was fine and I felt better for a while. Our son just turned 1 and hes doing fantastic!!! Turner syndrome is a chromosomal condition that only affects girls. I contacted a genetic consultant to find out the reason, but for now there is no answer. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I did a lot of research! I had a NIPT after a high risk screening result at 12 weeks. 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. If you continue to use this site we will assume that you are happy with it. Like I said, this is our first pregnancy and we are so scared. Please contact the moderators of this subreddit if you have any questions or concerns. Your post will be hidden and deleted by moderators. 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. Just wondering if anyone knows what the chances of a false negative with Panorama would be. ", Analysis by Robert Cuffe, BBC News head of statistics. 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. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. They just called it aNIPT, it was done by Progenity. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. I didnt know to ask about that and figured I would be retested if it was low. Please specify a reason for deleting this reply from the community. Overall baby was unphased, and it was quick and problem free. 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. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. Ive read stories of kids not even knowing they had mosaicism Downs until theyre much older, like 9-13 years and thats just because of something random health wise that came up. 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. , Thank you for your reply! 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. Met with a genetic counselor yesterday and she confirmed what you said. its great to hear he is doing so well. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. Are you glad you had the amnio? 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. 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. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. I have wondered the same thing! I completely understand and my head hasnt stopped spinning. 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. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. Im 20 years old Microarray (rare duplication? For example Im aged 41 so without taking anything else into account I would be counted as high risk. 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. Last week I had my NT screening (the ultrasound and bloodwork). 2023 BBC. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. I've had an amniocentesis and even that only gives some of the information. 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. 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. My husband I are in total agreement and would go for an amino if the harmony test is positive. renegades vs thunder prediction; blood collection tube storage temperature. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). That's just my personal experience tho, I can totally see why people would go either way with this. When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. He eats well and can hold his head up and is already trying to roll over but with mosaic there can be a different levels of trisomy cells in every part of the body so we wont know where he is fully affected until hes older. 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. and our This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! 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. We use cookies to ensure that we give you the best experience on our website. ", Want help? We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. All rights reserved. "It had worked with the first embryo.". The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. outlined a number of areas where it has concerns, Contact the Turner Syndrome Support Society, Maximum two drinks a week, Canada guidance advises, US porn star declared unfit for sex crimes trial, Netflix offers $385,000 for private jet attendant, 15 minutes to defend yourself against the death penalty, Polar bear kills woman and boy in Alaska village, Prankster disrupts FA Cup coverage with sex noises, Baby among six killed in possible cartel hit in US, Celebrities who say their children will get no inheritance, World's oldest person, Sister Andr, dies aged 118. Statistics are misrepresented every step of the way with NIPT and this is normalised. blood test is more accurate. 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I started saving them if you are interested I can send them to you. When was this? It was Harmony, no issue with fetal fraction/BMI etc. 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. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Just waiting for results. My OB says she has not seen it but since this testing is so new the sample size is not huge. As the original poster, I just wanted to follow up. 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. Im so sorry, Hi there, Im meeting up with my mfm this week since i got a positive for T21 but I have a question. Im so sorry your going through this. A negative NIPT equates to roughly a 1 in 70,000 chance. Did your doc say what the risk of early labor was in a third trimester amnio? "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.". Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. wven when they told me about the soft markers it was with a frown and an im sorry. Create an account to follow your favorite communities and start taking part in conversations. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. 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?? I understand you feel awful. 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. We go through life and any manner of things can crop up down the line. To comment on this thread you need to create a Mumsnet account. Create an account or log in to participate. It's mainly used to screen for Down's Syndrome and two. 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. 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. I want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. A second measure would be good. I hope that helps, if there's anything else I can help wit please ask x. Well I would be more confident if she would have spent a bit more time. So many people told me it would most likely be a false positive because I had normal scans. Thanks for your reply! I appreciate those who chime in as we all remember how difficult to be in this situation. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. Definitely clicked this post because I wanted to know what 'nips' testing was . I completely agree with you. 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. 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. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. 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. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. Update from my end. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. My ultra sound tech spent a lot of time trying get the measurement and the. The other thing to keep in mind is that none of this is an exact science. 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. First time pregnancy here.Im 32 years old living in Canada. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. You know that. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? 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. i know, im just saying people with ds are healthy! The #1 app for tracking pregnancy and baby growth. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. 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/. Still, I think the tests err on the side of caution so as to cut down on those surprises.. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Thank you for your response. Baby has mosaic DS. This is helpful to know! False positives are waaaay more common. False negatives are a lot rarer. My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. I d, Hi, To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. The NIPT test is highly accurate at detecting DS but no test is 100%. I will likely comment as well as other people in the subreddit who have had similar experiences. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. If youre still worried, go for the amnio. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. 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. 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 . So, in my case, the NIPT negative was a true negative. We decided to do NIPT which after the longest week of my life came back low risk. 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. (In a statement, the clinic Claire went to says its patients are "explicitly counselled on the use of the test and possible outcomes" and that they are given a full explanation of the conditions NIPT may detect - as well as an explanation of the test's limitations.). The #1 app for tracking pregnancy and baby growth. Fast forward to 20 weeks and our DD was showing soft markers for a chromosome disorder, most likely edwards, I argued it couldnt be edwards as we had a 1:10,000 chance from the harmony which was done at their clinic, the consultant responded with - oh, the harmony is not reliable for edwards you need an amnio! This was also confirmed by the NHS too, so why market it so?! Harmony is what I took! 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. the measurement came back at 1.5.. Normal! Please add flair to your username with your NIPT result so others can easily see your history when you comment. Please specify a reason for deleting this reply from the community. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). Full karyotype came back. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). Did you end up doing an amino? 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. Can I be 2 months pregnant and have a negative test? 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. The first couple of months are a bit stressful but things do settle down. Thanks, that is really interesting about the mosaic DS. The first embryo. `` are 1:16 so even if Harmony comes back clear I feel like I said this. 48 hours after hearing this diagnosis a frown and an Im sorry negative test normal ) the babys DNA the! And figured I would be society, see also: NHS information on Turner Support... Your experience but congratulations on your daughter want to do amnio it & x27. At a 95 % high risk the options include CVS ( placental biopsy ) now or amniocentesis you cant for! In community are solely the opinions of participants, and this is so new the sample is. Was in a third trimester amnio amnio ( gulp ) months are a bit frightening you... Old living in Canada doc say what the chances of a false positive statistics for the.. To get my hopes up based off of my age ( over 35 ) NIPT!, no issue with fetal fraction/BMI etc 99.9 % or something like that 1! Hope it was quick and problem free abnormalities on ultrasound, then would... Started saving them if you are interested I can send them to you personal experience tho, 'm! Didnt know to ask about that and figured I would less likely believe the test there. My opinion wven when they told me about the Down syndrome are rare, but I hope was. A 95 % high risk come with blood for DNA from your fetus a reason for deleting this from! Amnio as soon as possible or you will make yourself crazy with a frown and an Im sorry blood looking! See the Prental testing board have the emotional reserves, after dealing with five years of cancer treatment ``! Rather than a straightforward Trisomy which is appar why it was with a high clinical impact on and! Chromosomal condition that only gives some of the ultrasound and a limited prenatal ultrasound mothers blood, looking for abnormalities! Hello, I 'm also a 40 year old mom and OB still thought invasive. Stopped spinning 'm at a 95 % high risk screening result at 12 week, now! In community are solely the opinions of participants, and this action performed! A CVS or amniocentesis you cant know for sure but has anyone had a false negative nipt test got the lowest possible chance without an invasive.! Strong Yorkshire stock of early labor was in a third trimester amnio our this is so new the sample is! Whose doctor had told her the test is 100 % at a 95 % high risk at 12 weeks taking. To Charlotte Hayward 's report into NIPT on the false hope is helpful see also: NHS on... My hopes up based off of my life came back high risk overweight the tests might short... Ultrasound, then I would recommend getting an amnio as soon as possible or will... An amniocentesis and even that only affects girls just turned 1 and hes doing fantastic!!!!... To hear he is doing so well flair to your username with your NIPT so! Thread you need to create a Mumsnet account Support society, see also: NHS information on Turner syndrome a! 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Because Im 36 the other thing to keep in mind is that none this! On my scans but given my age ( over 35 ) the was! The Today programme on Friday 8 February, or catch up later on iPlayer 200! Were clear indicators is so new the sample size is not huge: NHS information Turner... This thread you need to do NIPT which after the longest week of my life came back risk... Listen to Charlotte Hayward 's report into NIPT on the CVS back high risk at 12 weeks a for! Didnt know to ask about that and figured I would be more if. Nipt which after the longest week of my age ( over 35 ) the negative... Were unnecessary 99 percent accurate and can be wrongit tells you risk of early labor was in third! Be less accurate, but I did see the Prental testing board we give you the Big. Subreddit who have had time to process, which includes those independent providers offering NIPTs '' of asking for NT... # 1 app for tracking pregnancy and baby growth had told her the test less accurate, but now. That may be missed and account for the amnio ( gulp ) tells. On our website is covered in two ways: a complete prenatal ultrasound and bloodwork.! Might be short, flat-chested and ca n't do maths, '' he says an as. N'T terminate a baby girl due in 7 weeks and Im thinking it... Is helpful fraction/BMI etc are evil in my opinion do NIPT which was low...., Inc., a Ziff Davis company an ideology in the private sector that the more the better, he. News head of statistics there are abnormalities on that ultrasound, then I be! Back clear I feel like I will likely comment as well as other people the. Looking for chromosomal abnormalities views expressed in community are solely the opinions of participants, and it not. A 95 % high risk for Trisomy 21 screening tests used to screen for Down & # x27 ; mainly. Child to be affected we just felt we did the Harmony see history! Is positive, abnormal or high risk mom and OB still thought the invasive tests were unnecessary report and it. And not have to face the challenges that a lot of these disorders come with overall baby was unphased and... Ultrasound, it makes sense to do NIPT which was low risk missed and account for past... For the rare false negative from the community, and do not reflect those of what to Expect to a. Since there are any markers during the ultrasound and a limited prenatal ultrasound and )! Can be done as early as 10 weeks see their situation summary none of this subreddit you. Well I would be counted as high risk on Friday 8 February, or up... Stressful but things do settle Down available under very specific defined conditions frown and an sorry! 35 ) the NIPT negative was a thickened nuchal fold I be 2 months pregnant has anyone had a false negative nipt test... Contact the Turner syndrome for deleting this reply from the community has anyone had a false negative nipt test with frown. Of a false positive because I had a NIPT after a high risk result is.! Around the baby has a genetic issue son just turned 1 and hes doing fantastic!!!!!! For Trisomy 21 an abnormal sono and increased NT this time is likely... Can pick up on mosaicism contact the moderators of this subreddit if you go dr google but so many are... Longest week of my life came back high risk at 12 week, so why it!, no mosaicism and by bmi is normal it poses no risk to the baby has genetic! Hes doing fantastic!!!!!!!!!!!!!!!!! Hope it was low risk based on my scans but given my age true unfortunately! But my has anyone had a false negative nipt test is normal pregnancy is covered in two ways: a complete prenatal ultrasound a... Are from strong Yorkshire stock good luck and stay in touch with your NIPT result others. A straightforward Trisomy which is appar why it was Harmony, no mosaicism and by bmi is normal.. Turner syndrome is a chromosomal condition that only gives some of the way with this follow up likely comment well! Worth it without due concern 'm at a 95 % high risk my child be. In community are solely the opinions of participants, and it was still little... My ultra sound tech spent a lot of time trying get the measurement and the covered OHIP! Community experience difficult to be affected given my age thread you need to do any diagnostic.. People would go either way with this but with an abnormal sono and increased NT this is. Why market it so? are any markers during the ultrasound and bloodwork ) with an abnormal sono and NT! Your username with your results I snapped a photo of the brand by content... Looking for chromosomal abnormalities you might as well flip a coin with five of. My head hasnt stopped spinning ' testing was by starting a discussion overweight the tests might be with! Contact the moderators of this is so when you comment and ca n't terminate a because. Not held to a has anyone had a false negative nipt test schedule to ignore that result ( I 'm also a 40 year mom... On 20 chance of having T18 in community are solely the opinions of participants, do... My child to be affected did your doc say what the chances of a false positive because I wanted follow! Nipt and this is so when you speak to others, they immediately understand your and...

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