My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. I am now 28 weeks and Im thinking about it but Im not sure. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. In your case, this is less likely since there were issues seen on ultrasound. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). thats brilliant, some mosaic kids have very little issues. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. 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/. Read about our approach to external linking. What is the lowest chance of Down syndrome? There are a number of potential symptoms, including being short and having fertility problems. ", Analysis by Robert Cuffe, BBC News head of statistics. I'll take 1 in 70,000 any day over 1 in 7 So on balance for the whole population they can seem rare. 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. I have the same fears you do. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. That makes sense. So, has anyone had a false negative result from the NIPT test? I am 24 weeks today, so I do feel like its late to do the amnio. Thank you for your response. I know of two false negatives for t21 via nipt. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. our test came back negative across the board. "She is healthy, beautiful and full of smiles.". 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. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. Best of luck to you. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. It is a very accurate test from what I know. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. You know that. 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. We go through life and any manner of things can crop up down the line. 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. Is it possible to be pregnant and get a negative pregnancy test result? www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. When was this? Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. 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. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. 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. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? You got this mama x, Hi. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. We meet with a specialist on Monday to do an ultrasound to confirm this finding. I just had my nuchal translucence ultrasound at 13 1/2 weeks, and the doctor measured an increased thickness in nuchal translucency, which is an indicator of chromosomal abnormality or heart defect. Definitely clicked this post because I wanted to know what 'nips' testing was . 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 Hopefully the scan with the MFM will shed more light. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Really, they should have told me what that box was about." Yep 2020, blood sample collected approx 13 weeks ago. 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. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". Im sorry youre dealing with this! Apparently my doctor was given that information, but didnt look at it. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. Thats wonderful! , Honestly the thoughts of the amnio wer worse than the actual experience. Were happy hes doing well too! 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. 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. Im 13w and 3 days. Claire was in the shower at the time, and hurried out to answer the call. 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. 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. Will he wait for surgery or do they plan to do it after birth? @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. 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. 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. I did the Panaroma NIPT test at 10 weeks. 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. 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. My dr said I have a choice to have the harmony or do an amino. 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. Like I said, this is our first pregnancy and we are so scared. 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. Please whitelist our site to get all the best deals and offers from our partners. Just wondering if anyone knows what the chances of a false negative with Panorama would be. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. they used a site that combines the test results with my age, and test specificity. It was Harmony, no issue with fetal fraction/BMI etc. 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. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. 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. I took Harmony early in my pregnancy because Im 36. For more information, please see our Our son just turned 1 and he's doing fantastic!!! He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. britain 90%sorry im going in a rant! Now I stick with some support groups on Facebook because while there is sick kids you also see a lot of happy and healthy kids too. Group Black's collective includes Essence, The Shade Room and Naturally Curly. 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. Omg we are in very similar boats. If they told me the test was high risk I wouldve grieved for awhile but I am well aware what a blessing DS children are and it wouldnt have changed our outcome in any way. This message is automatically generated for all submissions and might sometimes get it wrong. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. the measurement came back at 1.5.. Normal! We decided to do NIPT which after the longest week of my life came back low risk. But your so right, life is full of ups and downs and unknown situations. has anyone had a false negative nipt test. Please specify a reason for deleting this reply from the community. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. Can you still be pregnant if you have a negative test? During this difficult time you may be looking information about what the NIPT results you received mean. Hey there, my daughter was born with a duodenal atresia. 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. 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. I got the FISH results from my CVS back already, and it is also negative. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. i hope you have a healthy rest of your pregnancy! We are very similar. I have wondered the same thing! i hate the way society views ds. I had a NIPT after a high risk screening result at 12 weeks. I hope that helps, if there's anything else I can help wit please ask x. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. And when she did, she found that her result might not be as troubling as it seemed. (I'm 32). What does OHIP cover? Discussion. 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. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. is anyone worried about false negatives with the harmony or panorama test. 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. 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). For example Im aged 41 so without taking anything else into account I would be counted as high risk. I appreciate those who chime in as we all remember how difficult to be in this situation. Unlike the NT test which has many shortcomings. Thank you so much for sharing your experience. It's a hard call, a very individual decision too depending on what the information means for you. 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. Cookie Notice used hydraulic press brakes for sale. Can you share what your third trimester amniocentesis was like? Privacy Policy. Well I would be more confident if she would have spent a bit more time. We have been heartbroken for the past 48 hours after hearing this diagnosis. It has also caused me alot of anxiety. The #1 app for tracking pregnancy and baby growth. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. For five years, Claire Bell's husband was treated for two types of cancer. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. My midwife recommends it for all AMA patients. Does he have low muscle tone, its great to have a physio keep a regular check on development. Has anyone had a false negative NIPT test? But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. If the sonos are normal I always ask people wait for an amnio. It's extremely rare! 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. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Your post will be hidden and deleted by moderators. I had similar results to you but OB recommended against amnio or CVS, so I didn't. But the fact that the state of CA is saying NIPT is superior to their test and that they don't pay heed to the results if NIPT has come back negative gives me a great amount of confidence. Is prenatal screening mandatory in Ontario? I never even knew there were different types of Down syndrome. And the only way to check for that is an amnio. 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. I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. So, in my case, the NIPT negative was a true negative. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. It's a very slim chance. Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. 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. thank you:) he is doing really well! "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.". his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Excellent NT Scan, Positive Blood Results. 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. we had low risk with our NIPT results from Harmony. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. We went with the Harmony. 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. Harmony is what I took! the mfm doctor told me they are really common. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. 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. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Still, I think the tests err on the side of caution so as to cut down on those surprises.. Slipping into journalist mode, Claire talked to the laboratory that tested her blood and asked how often they followed up to find out whether a baby given a test result indicating a high risk of Turner Syndrome actually turned out to have it. At my 20 week anatomy ultrasound I had 2 soft markers appear. I did a lot of research! This post is meant as a welcome and quick information / resources to those who have just found this sub. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Create an account or log in to participate. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. by ; March 30, 2022 ; nano bank board of directors; 0 . In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Though for women who have had fertility support, an earlier ultrasound may be done. 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. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. We just wouldve made sure we were prepared and possibly switch where we deliver. He has brought so much joy to our lives. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. I wondered for 5 months and it was rotten. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. 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.). My risk is 1:30. 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. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. Excellent NT Scan, Positive Blood Results. 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. I've had an amniocentesis and even that only gives some of the information. Im sure your little girl will be delighted to be a big sister! "It was this miraculous pregnancy," she says. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. that was as of last Monday. 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. (Harmony) They still can't figure out why. 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. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Human chorionic gonadotropin (HCG), a hormone made by the placenta If it came back positive we would have gone for the cvs or amino, I had a high measurement of 4mm at NT scan and have done Harmony. A negative NIPT equates to roughly a 1 in 70,000 chance. The advertise a very low false positive rating but don't mention the false negatives. Yes, we had a false negative for Trisomy 18. 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. I wish I had done more research and spoken to more people as we should have done a CVS. These stories make me wonder. If he has this as well, then it would be considered benign. HI! Interesting! "And besides, we are from strong Yorkshire stock. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. The first couple of months are a bit stressful but things do settle down. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. Met with a genetic counselor yesterday and she confirmed what you said. 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. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. There are some options filled in, but you can also write in your own result. PLEASE READ THESE LINKS - this will explain everything. My doctor was confident and reassuring regarding the procedure which was aassive factor. They are testing my husband now. 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. Did you get FISH results that confirmed your doctors suspicion? Best of luck! 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.
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