This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. I understand its a very accurate test, but not 100%. 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. 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. All rights reserved. Can you share what your third trimester amniocentesis was like? If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test Thank you! 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. i did the materniT genome test and was told it was 86% accurate. 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). She signed up for the test at a private IVF clinic. 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 just did the nipt test and I am not concerned about having false negatives. "There is an ideology in the private sector that the more the better," he says. , Honestly the thoughts of the amnio wer worse than the actual experience. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. Came back negative so we didn't need to do any diagnostic testing. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. All rights reserved. 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. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? 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. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. Low fetal fraction, high BMI, mosaicism? "I wanted her to be a whole person in my mind, for me to know her totally before she gets a condition attached to her," Claire says. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' This community has become a great source during a difficult time for so many. 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. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. we had low risk with our NIPT results from Harmony. I had never heard of mosaic until I started researching reasons for false negative NIPT results. The NIPT test is highly accurate at detecting DS but no test is 100%. not sure which ones you have. Did you get FISH results that confirmed your doctors suspicion? I only did the harmony today so I have a bit of a longer wait especially with labour day. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. 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. Firstly thank you so much for your reply, I appreciate it so much! 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. All prenatal screening is optional. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. First time pregnancy here.Im 32 years old living in Canada. So on balance for the whole population they can seem rare. 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. (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.). I got the FISH results from my CVS back already, and it is also negative. That makes sense. used hydraulic press brakes for sale. 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. When was this? 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 a hard call, a very individual decision too depending on what the information means for you. 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! 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! It has also caused me alot of anxiety. Processed at TDL London. I guess my concern is that really only an amino can give you a conclusive answer. 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. Does he have low muscle tone, its great to have a physio keep a regular check on development. Hope that helps a little?? 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. 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. I never even knew there were different types of Down syndrome. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. I did the Panaroma NIPT test at 10 weeks. This educational content is not medical or diagnostic advice. 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. 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. 2005-2023Everyday Health, Inc., a Ziff Davis company. soft matkers are common. I had some finding with my NT scan and first trimester blood work. If the sonos are normal I always ask people wait for an amnio. 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. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. What was the blood test result from that (the Papp-A)? 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. Cookie Notice 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. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. 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). I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. 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. BabyCenter may earn a commission from shopping links. Interesting! I'm unclear. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. Healthy is the most importantnot chromsomally-typical. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). You will see this come up in posts across this sub. 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. Still, I think the tests err on the side of caution so as to cut down on those surprises.. Though for women who have had fertility support, an earlier ultrasound may be done. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. 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. 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. There are a number of potential symptoms, including being short and having fertility problems. Had to TFMR at 22 weeks. 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. So many people told me it would most likely be a false positive because I had normal scans. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. I d, Hi, He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. Is there room to get my hopes up based off of my age? But if the CVS comes back mosaics, you may need to follow up with an amnio. 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. 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/. Lol. Our dating scan showed a normal NT measurement and risk factors were low. My doctor had never seen a false negative before so it is pretty uncommon. nipt was negative. 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. 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. Thank you!! I didn't want to know the gender but my husband did, so I thought, 'All right then. Thank you for your response. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! Of course now I'm worrying myself sick that it might be a false negative and I read somewhere that NIPT tests for women under 35 are not as accurate. I would try not to worry about it (I know thats easier said than done). These was making your result high risk a false positive because I had never a! & automod message for information about the screen and your result high.... Situation summary office for future patients such as amniocentesis and CVS diagnose the 100. To be judgemental but the baby wo n't cooperate but I 'm confident the. Get Quote ; has anyone had a false positive because I had scans! 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