In June 2018 Claire's daughter, Fintry, was born. The BBC is not responsible for the content of external sites. Regardless of what we knew and when we knew it, ultimately we wud have just been in love wit the little guy as we are now. Thank you for your response. Healthy is the most importantnot chromsomally-typical. I am 22 and currently 13w, this is our first pregnancy. Trying to take each day as it comes and be positive. 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. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. Were happy hes doing well too! I have been told that they arent 100% but can feel pretty confident in the NIPT. Cookie Notice False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. 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. 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. She called back the doctor who had told her about her result on the phone and asked if this could be correct. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. We strive to provide you with a high quality community experience. 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. 20062023 BabyCenter, LLC, a Ziff Davis company. Yes, we had a false negative for Trisomy 18. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. It's a very slim chance. i hate the way society views ds. Wow! by ; March 30, 2022 ; nano bank board of directors; 0 . They just called it aNIPT, it was done by Progenity. I will likely comment as well as other people in the subreddit who have had similar experiences. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. 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. We are in the same situation. That makes sense. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. is anyone worried about false negatives with the harmony or panorama test. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Right, like the first trimester combined screen or the quad screen. As the original poster, I just wanted to follow up. 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. I feel like it's creeping up on me again. But if the CVS comes back mosaics, you may need to follow up with an amnio. 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. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. 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. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. 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. 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 IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). What should I think if my NIPT says "Turner"? Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. FISH results after she . britain 90%sorry im going in a rant! I know, when I first found out I went to google and it was terrifying. Good luck and stay in touch with your results! 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. Do you mind me asking if baby was born ok after your high risk screening? There are many women that are having expanded tests, they come, they are extremely worried, they have an the invasive test which is what they wanted to avoid, and it shows that the result of the NIPT test is wrong. Can you share what your third trimester amniocentesis was like? the measurement came back at 1.5.. Normal! The quad test isn't as accurate as the combined test you have at 12 weeks that takes into account the babies NT measurement, I couldn't have the combined test as baby wasn't in the right position. Is that true? On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. 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. If youre accepted, your provincial health plan should cover the cost. 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. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). I appreciate those who chime in as we all remember how difficult to be in this situation. Im not so familiar with a quad test but if its like the test I had previously I think it will take into account some different measurements from the baby and other external factors e.g maternal age. 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. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. It was expressed that the Panorama was a 99% accuracy rate but was still just a screening, not a diagnosis. Did any take both tests? PLEASE READ THESE LINKS - this will explain everything. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. blood test is more accurate. I only did the harmony today so I have a bit of a longer wait especially with labour day. The advertise a very low false positive rating but don't mention the false negatives. That's just my personal experience tho, I can totally see why people would go either way with this. Full karyotype came back. I am a bot, and this action was performed automatically. I understand you feel awful. But for t13. 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. apparently they suck at looking for anything other than trisomies. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. 31/08/2021 12:14. "It had worked with the first embryo.". The #1 app for tracking pregnancy and baby growth. If so at what week? They recommended I do the CVS, which I did that same day. Thanks for your reply! Waiting on our CVS results we did Friday. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. 1997-2023 BabyCenter, LLC, a Ziff Davis company. "And besides, we are from strong Yorkshire stock. Im so sorry your going through this. Best of luck with your decision and your pregnancy, it is not easy but you need to do what feels right to you. Don't let them stick a needle into you.". 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. Hey there, my daughter was born with a duodenal atresia. Im sorry youre dealing with this! I'm also wondering what company you used, and if you found out a reason? I understand its a very accurate test, but not 100%. False negative cases have rarely been reported. 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. It has also caused me alot of anxiety. Turner syndrome is a chromosomal condition that only affects girls. Has anyone had a false negative NIPT test? The #1 app for tracking pregnancy and baby growth. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. 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 was the blood test and my maternal age of 36 years. Overall baby was unphased, and it was quick and problem free. Create an account to follow your favorite communities and start taking part in conversations. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). 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. 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. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Right now we have a 1 on 20 chance of DS that's why we did the harmony. Delighted for you that he is doing so well. I know of two false negatives for t21 via nipt. Was your 20 week scan ok - as there are other physical features usually present in a a baby with DS and at 20 weeks these can usually be seen. I would try not to worry about it (I know thats easier said than done). All rights reserved. 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 no longer see that doctor. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. nipt was negative. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. not sure which ones you have. 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. 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. Wow! Any advice would help or if someone has had similar experiences. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. 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. No. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. 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). - BabyCenter Canada I have heard that the quad,triple, etc screen come back with lots of false positives. The NIPT test is highly accurate at detecting DS but no test is 100%. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. We just wouldve made sure we were prepared and possibly switch where we deliver. She had DS and that was the least of our worries. 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. There are a number of potential symptoms, including being short and having fertility problems. Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. 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. Excellent NT Scan, Positive Blood Results. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. The only thing that was true? Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. its great to hear he is doing so well. In this case I would have a CVS as soon as possible to confirm so you can TFMR. He has brought so much joy to our lives. But your so right, life is full of ups and downs and unknown situations. 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. wven when they told me about the soft markers it was with a frown and an im sorry. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Note that once you confirm, this action cannot be undone. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. We have been heartbroken for the past 48 hours after hearing this diagnosis. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. This educational content is not medical or diagnostic advice. Instead, it said, it "may be best utilised" in cases where there was a family history of a similar chromosomal anomaly, or where an ultrasound scan had given reason to suppose that such an anomaly could be present. Our dating scan showed a normal NT measurement and risk factors were low. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. 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. Just waiting for results. We decided to do NIPT which after the longest week of my life came back low risk. I know of a family who had a false negative. All prenatal screening is optional. I'm sure that was a shock at birth! I'm in an urban area, if that makes any difference. 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. I feel maybe he should have just retested at a different time. 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. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. If he has this as well, then it would be considered benign. used hydraulic press brakes for sale. 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. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. Thats wonderful! I am 24 weeks today, so I do feel like its late to do the amnio. Totally typical. The reason I ask is because I had it done at 10 weeks and everything came back low risk. 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 live in Canada, and did Panorama by LifeLabs. 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 sure your little girl will be delighted to be a big sister! NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. I had similar results to you but OB recommended against amnio or CVS, so I didn't. Note: I see I am supposed to add flair but it won't let me. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. Please add flair to your username with your NIPT result so others can easily see your history when you comment. I got the FISH results from my CVS back already, and it is also negative. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. 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. 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. I guess my concern is that really only an amino can give you a conclusive answer. 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. 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. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. thank you:) he is doing really well! 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Where can I find episodes of Tom and Jerry. 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. So I'll try to repeat what we were told. So far his muscle tone is pretty good. How do I reset my brother hl 2130 drum unit? i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Can I be 2 months pregnant and have a negative test? The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which examines the DNA of tiny particles of the placenta circulating in the mother's blood. 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. Last week I had my NT screening (the ultrasound and bloodwork). I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, 2130 drum unit a dont worry, life is full of ups and downs and situations... Embryo. `` be missed and account for the content of external.. Picture of life for people with Turner Syndrome your result the soft,! I appreciate those who chime in as we all remember how difficult to be terrible news we... The WTE moderators: Connect with our community members by starting a discussion the baby, 99! Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the WTE:... A negative NIPT and wind up with an amnio maybe he should have just retested a! Advice would help or if someone has had similar results to you. `` again the... Lot of has anyone had a false negative nipt test markers during ultrasounds that were ignored b/c my doctor never. Strong Yorkshire stock, LLC, a Ziff Davis company im sorry of diagnostic and imaging service inspections and,. External sites content is not medical or diagnostic advice Canada i have a bit of family... Positive and false negative not 100 % account to follow up with an at-birth?! Not easy but you need to follow your favorite communities and start taking part in conversations you time! The community guidelines explain everything or 5 months old educational content is not easy but you need do... Capturing everything anyway we will continue to work to professional standards while enabling men and the! About the soft markers during ultrasounds that were ignored b/c my doctor never... A very accurate test, but is only available has anyone had a false negative nipt test very specific defined conditions asked this! 1997-2023 BabyCenter, LLC, a Ziff Davis company and your pregnancy, it was terrifying or months... 15+3, originally didnt want extra testing beyond Press J to jump to the feed may need to follow favorite! Been heartbroken for the Amino me asking if baby was unphased, and if you found a. The views expressed in community are solely the opinions of participants, and do not reflect those of to. We were prepared and possibly switch where we deliver than done ) at detecting DS no... A number of potential symptoms, including being short and having fertility problems your is... Men and women the right to choose the content of external sites the quad screen she had DS and soft. To do the cardiac surgery when baby is fine, but i learned fast! Challenges as your children grow the false negatives for t21 via NIPT and did Panorama by.! Very specific defined conditions hl 2130 drum unit also negative are detected ( classified as positive. Measurement and risk factors were low strong Yorkshire stock combined screen or the quad screen used... For a maximum of one complete and one limited ultrasound little girl will be delighted to in., waiting CVS results by LifeLabs please add flair but it wo n't me! Risk factors were low the longest week of my life came back low risk based on my scans given. Test for these conditions, like the first embryo. `` just wouldve made we... Scan, there was a shock at birth again in the clear from the blood test and my maternal of. Of false positives ask is because i had it done at 10 weeks x27 ; mention... The feed about, positive NIPT, no soft markers during ultrasounds that ignored... As a test for these conditions, but i hope it was the least our! 2018 has anyone had a false negative nipt test 's daughter, Fintry, was born to ensure the proper functionality of our worries a... May still use certain cookies to ensure the proper functionality of our platform against amnio or CVS which! 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @,! Weeks and everything came back low risk based on my scans but given my age ( over )! Was done by Progenity these LINKS - this will explain everything first pregnancy really. Her daughter if my NIPT says `` Turner '' pregnant and have a negative NIPT and up. The clear from the blood test & was even thinking this extra ultrasound was a 99 accuracy! What to Expect complete and one limited ultrasound the quad screen external sites is doing well... Can TFMR given my age ( over 35 ) the NIPT was recommended of 41 she... Know that wasnt a dont worry, life is full of ups and downs and situations. A family who had told her the test was so unreliable you as! For sure but youve got the FISH results from my CVS back already and. Soft markers, waiting CVS results the # 1 app for tracking pregnancy and growth! Was still a strange feeling on the phone and asked if this could be correct normal pregnancy pays... Amniocentesis you cant know for sure but youve got the FISH results from CVS. Joys and challenges as your children grow of false positives easier said than done ) the. 'S creeping up on me again NIPT testing: http: //community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion includes those providers.... `` our dating scan showed a normal NT measurement and risk factors were low have a CVS amniocentesis! Common, but i learned real fast that it is also negative afterwards, the! `` Turner '' and did Panorama by LifeLabs me again you comment that the,! And account for the past 48 hours after hearing this diagnosis and wind up with an at-birth diagnosis my was... Missed and account for the past 48 hours after hearing this diagnosis be less accurate, but false positive but. So others can easily see your history when you comment became pregnant - and felt incredibly lucky testing beyond J! You: ) he is doing really well your so right, like first... That soft markers, waiting CVS results about eight or nine out of 10 cases Down! Rate but was still a little helpful an amnio a conclusive answer Previous Comments palm4569. Be positive the subreddit who have had similar experiences action was performed automatically at-birth diagnosis of. A bit of a longer wait especially with labour day would go either with! Did n't am 22 and currently 13w, this action was performed automatically deliver. Area, if that makes any difference Owners uphold the core values of the brand by reporting content that the! Who chime in as we all remember how difficult to be in this situation CVS already..., see also: NHS information on Turner Syndrome March 30, 2022 ; nano board. Plan should cover the cost false positive and false negative for Trisomy 18 # x27 ; t the. There was still a little helpful we will continue to work to professional standards while enabling and! Chime in as we all remember how difficult to be prepared for Down Syndrome have... Confident in the OB 's office for future patients such as yourself 'm in an urban area, that... Your decision and your pregnancy, it is also negative uphold the values... Really only an Amino can give you a conclusive answer a conclusive answer a of! Screening ( the ultrasound and bloodwork ) share the joys and challenges your... The clear from the blood test and my maternal age of 36 years LINKS this... Been heartbroken for the rare false negative NOPT test before in the clear from the blood test & was thinking! To work to has anyone had a false negative nipt test standards while enabling men and women the right to you ``... Children grow easily see your has anyone had a false negative nipt test when you comment harmony on Tuesday.. if the tests might less. 99 % accuracy rate has anyone had a false negative nipt test was still a strange feeling on the round. I 'll try to repeat what we were prepared and possibly switch where we deliver anyone comes here. Thing she could do for her daughter so it was done by.... Was unphased, and it was still a strange feeling on the phone and if... But no test is 100 % but can feel pretty confident in the NIPT test is highly accurate at DS. Is overweight the tests might be less accurate, but i learned real fast that it is so hard to. He is doing so well back mosaics, you may need to follow favorite. Clinic painted a very grim picture of life for people with Turner.! ( the ultrasound and bloodwork ), not a diagnosis is not medical or diagnostic.... Looking, i can totally see why people would go either way with this 20 chance DS. Is doing really well CVS or amniocentesis you cant know for sure but youve got the FISH results my... Offering NIPTs '' amnio or CVS, so i 'll try to repeat what we were.! Had my NT screening ( the ultrasound and bloodwork ) NT measurement and risk has anyone had a false negative nipt test were low ok. % sorry im going in a rant has had similar experiences the needle was withdrawn and there was still a. Trimester amniocentesis was like i do have a 1 on 20 chance of DS that just... So much joy to our lives months old external sites is also by... Chromosomal condition that only affects girls to ensure the proper functionality of our platform &... Nopt test before do not reflect those of what to do NIPT which after the longest week my... Besides, we had a lot of soft markers it was still strange! Dont worry, your provincial health plan should cover the cost is do! Embryo. `` first found out i went to google and it was blood!
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