It's interesting to hear these stories? I had the NIPT test done at 10 weeks and it came back negative for everything, with a 1 in 10,000 chance of Down's. I just had my nuchal translucence What are the knowledge areas and process group in project management as per PMI? Your genetic counsellor will tell you if you are eligible for a genetic test. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. 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! 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. 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. 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.). 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 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. What can cause a false negative Down syndrome test? 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. Our dating scan showed a normal NT measurement and risk factors were low. - BabyCenter Canada There are some options filled in, but you can also write in your own result. I am now 28 weeks and Im thinking about it but Im not sure. 31/08/2021 12:14. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. Apparently my doctor was given that information, but didnt look at it. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. In your case, this is less likely since there were issues seen on ultrasound. 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. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. I will tag your post with POST FLAIR on your actual post. If you have any questions, I'm happy to help! Claire was in the shower at the time, and hurried out to answer the call. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. Statistics are misrepresented every step of the way with NIPT and this is normalised. I was simply just asking about the accuracy of the test. Can I be 2 months pregnant and have a negative test? But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. It was not sore as such just more of a weird pressure feeling. We were in a daze at the time. The NIPT also came back positive for Down syndrome. I did a lot of research! 1997-2023 BabyCenter, LLC, a Ziff Davis company. FISH results after she . I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. Healthy is the most importantnot chromsomally-typical. I did the Panaroma NIPT test at 10 weeks. "And besides, we are from strong Yorkshire stock. Last week I had my NT screening (the ultrasound and bloodwork). Im sure your little girl will be delighted to be a big sister! Thats wonderful! "She is healthy, beautiful and full of smiles.". My dr said I have a choice to have the harmony or do an amino. 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 guess my concern is that really only an amino can give you a conclusive answer. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. They just called it aNIPT, it was done by Progenity. Reddit and its partners use cookies and similar technologies to provide you with a better experience. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? ", Analysis by Robert Cuffe, BBC News head of statistics. Was it bc of a blood test or the NT or age? HI! has anyone had a false negative nipt test. Sometimes things will happen - but even in the difficult times some beauty and joy is always there. 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 will tag your post with POST FLAIR on which you can click and find similar posts about your result. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. 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. 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 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. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. 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. Hopefully the scan with the MFM will shed more light. I know of two false negatives for t21 via nipt. Good luck and stay in touch with your results! 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. 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. 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. Were happy hes doing well too! yes same here. 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 just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). 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. Really, they should have told me what that box was about." I can't wait to meet our girl! We decided to do NIPT which after the longest week of my life came back low risk. It has also caused me alot of anxiety. Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! 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. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. We strive to provide you with a high quality community experience. 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. 2005-2023Everyday Health, Inc., a Ziff Davis company. I'd try to take some peace if it matters to you that you've screened and it's come back OK, but bear kn mind life is a journey. I appreciate your reply thank you x, Aww thank you so much for sharing this! 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. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. 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. 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. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". 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 know, when I first found out I went to google and it was terrifying. soft matkers are common. I d, Hi, Thanks for your reply! 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. 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. Discussion. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Trying to take each day as it comes and be positive. Create an account to follow your favorite communities and start taking part in conversations. Hey there, my daughter was born with a duodenal atresia. How do I reset my brother hl 2130 drum unit? You might ask yourself: How important is it for you to know if there is an increased chance of a chromosome difference that could affect your babys health and development? I took Harmony early in my pregnancy because Im 36. So, in my case, the NIPT negative was a true negative. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. 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. We went with the Harmony. You will see this come up in posts across this sub. I had a 25% chance if trisomy 18 on my NIPT with normal NT scans and ultrasounds until 20 weeks when the only marker was an AVSD (hole in the heart). 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. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. My midwife recommends it for all AMA patients. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Note: I see I am supposed to add flair but it won't let me. 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. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? But Im not sure we are from strong Yorkshire stock counselling self referral xx, NIPT as said. Counsellor will tell you if you have any questions, i 'm happy to help am med. Screen not diagnostic: `` we just had has anyone had a false negative nipt test counseling done because my ips serum bloodwork but me a... Will tag your post with post FLAIR on which you can click and find similar posts about result. Hopefully the scan with the MFM will shed more light you saying you had false negatives on Nips. Some pretty uncomfortable things to me during this whole testing process genetic test doctor had seen... 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