has anyone had a false negative nipt test

They just called it aNIPT, it was done by Progenity. I know of a family who had a false negative. Totally typical. If he has this as well, then it would be considered benign. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I also would like to get another scan. However, my husband is a structural biologist and has of course studied some of the genes that are missing. 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 answer was, they didn't do this. This limit does not apply to high risk pregnancies. 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. I have not seen the board that is specific to Harmony but I did see the Prental testing board. They are testing my husband now. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Can you share what your third trimester amniocentesis was like? Im sorry youre dealing with this! 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. i did the materniT genome test and was told it was 86% accurate. 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. iceland is 100%. nipt was negative. The first couple of months are a bit stressful but things do settle down. 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. 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. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Overall baby was unphased, and it was quick and problem free. This is specifically for an actual high risk for ONE of those on the NIPT. It's mainly used to screen for Down's Syndrome and two. Has anyone had a false negative NIPT test? We are in the same situation. It was not sore as such just more of a weird pressure feeling. Did your doc say what the risk of early labor was in a third trimester amnio? I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. For five years, Claire Bell's husband was treated for two types of cancer. Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. 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. "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.". Firstly thank you so much for your reply, I appreciate it so much! These stories make me wonder. Did you end up doing an amino? So the quad test test takes into account age (27 I was 26 at the time) ethnicity, BMI ( I am over weight) and diabetes, the blood taken measures Alpha-fetoprotein (AFP), a protein made by the developing baby If you have any questions, I'm happy to help! Where can I find episodes of Tom and Jerry. 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. 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. 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. We are very similar. Xx, Hi. 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. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. has anyone had a false negative nipt test. She shows no symptoms of Turner Syndrome. Is prenatal screening mandatory in Ontario? Were happy hes doing well too! My 20 week scan was fine no abnormalities detected. Thanks for your reply! Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. 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. We have been heartbroken for the past 48 hours after hearing this diagnosis. I hope the baby gains weight fast for the heart surgery. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). My midwife recommends it for all AMA patients. Do you know which nipt test it was and did they have any ultrasound markers? I also agree about people and doctors and how they view DS. 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. I wondered for 5 months and it was rotten. During this difficult time you may be looking information about what the NIPT results you received mean. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. I am a bot, and this action was performed automatically. 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. Reddit and its partners use cookies and similar technologies to provide you with a better experience. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Please specify a reason for deleting this reply from the community. Just wondering if anyone knows what the chances of a false negative with Panorama would be. Find advice, support and good company (and some stuff just for fun). 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. You will see this come up in posts across this sub. 20062023 BabyCenter, LLC, a Ziff Davis company. 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. 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/. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. 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. So far his muscle tone is pretty good. Im so sorry your going through this. 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. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. Omg we are in very similar boats. Do you mind me asking if baby was born ok after your high risk screening? Any advice please . Yes, I had a negative NIPT and a birth diagnosis of DS. Can NIPT tests be wrong? I was simply just asking about the accuracy of the test. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). 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. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Haha sorry I was typing fast on my phone. Definitely clicked this post because I wanted to know what 'nips' testing was . 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). "And besides, we are from strong Yorkshire stock. When it finally came to an end the couple decided to try having a baby through IVF, using some sperm her husband had had frozen and stored before he had chemotherapy. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. It's a very slim chance. I know exactly how you feel. Our son just turned 1 and he's doing fantastic!!! 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. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. We meet with a specialist on Monday to do an ultrasound to confirm this finding. 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. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Last week I had my NT screening (the ultrasound and bloodwork). There's actually a board on here for those specific NIPT tests. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. 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. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! 31/08/2021 12:14. "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.". I'm sure that was a shock at birth! I understand you feel awful. The NIPT test is highly accurate at detecting DS but no test is 100%. 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. 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! 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. Thank you for sharing this. 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. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? 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. Please contact the moderators of this subreddit if you have any questions or concerns. Any advice would help or if someone has had similar experiences. Has anybody ever had or seen anybody have a false negative NIPT result? She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. MaterniT21 positive for Down Syndrome. 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