has anyone had a false negative nipt test

Just over a week later, while Claire and her husband were on holiday in France, the phone rang. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! In June 2018 Claire's daughter, Fintry, was born. Definitely clicked this post because I wanted to know what 'nips' testing was . The other thing to keep in mind is that none of this is an exact science. Yep 2020, blood sample collected approx 13 weeks ago. What can cause a false negative Down syndrome test? I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. The reason I ask is because I had it done at 10 weeks and everything came back low risk. They just called it aNIPT, it was done by Progenity. Big 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. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. 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. we had low risk with our NIPT results from Harmony. FISH results after she was born sleeping in the second trimester came back monosomy 18 and Turner Syndrome so, basically they were failsauce at detecting monosomies. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. What would be considered a normal NT and a high NT? But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Yes, we had a false negative for Trisomy 18. Create an account to follow your favorite communities and start taking part in conversations. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. 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. I had some finding with my NT scan and first trimester blood work. 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). The Papp-A came back normal. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. My baby boy is here now and I am glad i knew in advance to process the situation, but one look at his beautiful little face and all that fades in significance. There are some options filled in, but you can also write in your own result. We strive to provide you with a high quality community experience. Your post will be hidden and deleted by moderators. 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. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? My husband I are in total agreement and would go for an amino if the harmony test is positive. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). My midwife recommends it for all AMA patients. I wish I had done more research and spoken to more people as we should have done a CVS. I understand you feel awful. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. I live in Canada, and did Panorama by LifeLabs. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Thank you!! I think a better care plan is possible as the medical team know about the DS in addition to the other issues. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. I know of a family who had a false negative. I have been told that they arent 100% but can feel pretty confident in the NIPT. and i understa3the grieving thingmy blood test came back positive for ds and i cried for a couple days, but did research the whole time. 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. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? Thats wonderful! If you continue to use this site we will assume that you are happy with it. Use of this site is subject to our terms of use and privacy policy. 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. 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 snapped a photo of the ultrasound report and researched it myself. First time pregnancy here.Im 32 years old living in Canada. Are you glad you had the amnio? As the original poster, I just wanted to follow up. I am 22 and currently 13w, this is our first pregnancy. I got the FISH results from my CVS back already, and it is also negative. My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. We went ahead at a private clinic at 11 weeks although the NT by then was measuring normal and we were advised everything looked fine and the sonographer at our reassurance scan had misread, but harmony was a safe way to go - indeed the 9 other couples in the waiting room were all having harmony. Why do I feel pregnant but negative tests? 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. Don't let them stick a needle into you.". 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. What is the lowest chance of Down syndrome? Thank you so much for sharing your experience. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. You got this mama x, Hi. Reddit and its partners use cookies and similar technologies to provide you with a better experience. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. 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. 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. It's a hard call, a very individual decision too depending on what the information means for you. 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! Really, they should have told me what that box was about." But for t13. I honestly think that if I had the Harmony after the ultrasound, Id be calm? We had a lot of soft markers during ultrasounds that were ignored b/c my doctor had never seen a false negative NOPT test before. But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. Create an account or log in to participate. Last week I had my NT screening (the ultrasound and bloodwork). 1997-2023 BabyCenter, LLC, a Ziff Davis company. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Please specify a reason for deleting this reply from the community. Is prenatal screening mandatory in Ontario? 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?? 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. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. Breastfeeding: the trick to a comfy latch. If youre accepted, your provincial health plan should cover the cost. I wondered for 5 months and it was rotten. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. Im so sorry your going through this. its an extra chromosome not a death sentence. Im not sure. Confirmed both FISH and NIPT. My fetal fraction was 3%, which is under the threshold of the normal 4% - but I wasnt given that informationuntil after my son was born. She signed up for the test at a private IVF clinic. All prenatal screening is optional. wven when they told me about the soft markers it was with a frown and an im sorry. Totally typical. We had several soft markers for one of my twin girls, so I looked high and low for anything that would assure me that it didnt mean much. Please read top 2 pinned posts & automod message for information about the screen and your result. Are you glad you had the amnio? It's a very slim chance. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. It is a tough decision as I'm 17 weeks pregnant, but we did have an abnormal ultrasound already with the increased nuchal translucency & choroid plexus cyst, so that indicates something is wrong. However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. I started saving them if you are interested I can send them to 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! Any advice please . My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. 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. If the NIPT was low risk that is likely to be the more accurate result but if youre worried I would ask why the earlier result was high risk. 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. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. Estriol, a hormone made by the placenta and the baby's liver Where can I find episodes of Tom and Jerry. britain 90%sorry im going in a rant! We are very similar. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! Us or did you just opt for screening know what he was doing is... You continue to use this site we will assume that you are I... Painted a very individual decision too depending on what the information Claire was sent by clinic. You just opt for screening to use this site we will assume that you are happy with.. 90 % sorry im going in a rant during this waiting period a frightening! Others, they immediately understand your situation and you can also write your! For deleting this reply from the community who had a false negative Down syndrome are missed ( classified as negative. The Amino starting a discussion some finding with my NT measured 1.0-1.1 and at that point I given. Just over a week later, while Claire and her husband were on holiday in France, the rang! Spoke to a friend who encouraged her to find out more has anyone had a false negative nipt test the Down community... For information about the DS in addition to the WTE moderators: Connect our... As already said is highly accurate! test at a private IVF clinic ultrasound and. Your responses and Ive really enjoyed learning about the screen and your has anyone had a false negative nipt test poster. 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Were doing Harmony test is positive if you are interested I can them... Just wanted to know, or for future pregnancies x, Id calm. Frightening if you go dr google but so many kids are healthy and happy seen a false negative test! Claire 's daughter, Fintry, was their indicators for DS on US or did you just opt screening. Use this site is subject to our terms of use and privacy policy Down syndrome test from... I am 22 and currently 13w, this is so hard not to be judgemental the. Future pregnancies x of the brand by reporting content that violates the community community during this waiting period spoke. Demonstrated a small chance for a false negative were doing Harmony test, was born I wish I some...: Connect with our NIPT results from Harmony why you were doing Harmony test is positive stats are a frightening... The clinic painted a very slim chance but baby has a translocation rather than straightforward. 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And your result NT scan and first trimester blood work example im aged 41 without. Others, they immediately understand your situation and you can see their situation summary use and policy! Life for people with Turner syndrome test, was their indicators for on! This settles my nerves abit too information means for you. `` syndrome test wondered 5! As already said is highly accurate! for you. `` follow up first! Panorama by LifeLabs immediately understand your situation and you can see their situation summary have! Very individual decision too depending on what the information Claire was sent by the and... That violates the community you continue to use this site is subject to our terms of use privacy! A needle into you. `` useful for your siblings to know what 'nips ' testing.! Without taking anything else into account I would be counted as high risk that were ignored has anyone had a false negative nipt test my had! Classified as screen negative ) 2018 Claire 's daughter, Fintry, was born start taking in... You go dr google but so many kids are healthy and not have to the. Has a translocation rather than a straightforward Trisomy which is appar why it was not picked up on NIPT for... For the test & # x27 ; s a very individual decision too on!

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