Create an account or log in to participate. Really, they should have told me what that box was about." Find advice, support and good company (and some stuff just for fun). I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. 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. This post is meant as a welcome and quick information / resources to those who have just found this sub. Fascinating! I appreciate those who chime in as we all remember how difficult to be in this situation. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. "She is healthy, beautiful and full of smiles.". Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! 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. Your post will be hidden and deleted by moderators. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. In response to the increasing availability of the NIPT test, England's Care Quality Commission started carrying out inspections of clinics and hospitals in England - Health Improvement Scotland has also said it currently regulates two services which offer pre-natal testing, In a statement, the CQC says: "We expect providers of NIPTs to ensure that women fully understand the procedure, know that it is not a diagnostic test, are informed about the possible outcomes, and that appropriate support is made available when delivering the test results. 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. by ; March 30, 2022 ; nano bank board of directors; 0 . They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. 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! The Harmony test came back clear and we relaxed. Is prenatal screening mandatory in Ontario? The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . I know I already love this child and I believe we get the children we get for a reason. "And besides, we are from strong Yorkshire stock. 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. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. There are some options filled in, but you can also write in your own result. Also, we didn't have any markers as part of the ultrasounds Because of the NIPT coming back is low risk and no specific markers, no one suggested I should do an amnio. That makes sense. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. We strive to provide you with a high quality community experience. Harmony is what I took! 2005-2023Everyday Health, Inc., a Ziff Davis company. that was as of last Monday. 31/08/2021 12:14. Has anyone had a false negative NIPT test? I think they are very rare and I would less likely believe the test if there were clear indicators. 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. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). Had to TFMR at 22 weeks. But if the CVS comes back mosaics, you may need to follow up with an amnio. Check it out. PLEASE READ THESE LINKS - this will explain everything. I feel maybe he should have just retested at a different time. Sending prayers and good vibes. Statistics are misrepresented every step of the way with NIPT and this is normalised. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. Yes, we had a false negative for Trisomy 18. So on balance for the whole population they can seem rare. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. used hydraulic press brakes for sale. I wish I had done more research and spoken to more people as we should have done a CVS. Please feel free to reach out if you need to vent, ask more questions or need more resources. - BabyCenter Canada We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. 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. Our son just turned 1 and hes doing fantastic!!! Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. Im really not inclined to do an amnio, but I wonder if there would be any sense in taking a different CFDA test for peace of mind. Came back negative so we didn't need to do any diagnostic testing. 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. My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. The NT was higher at 3.2 so I opted for a CVS. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. I completely agree with you. But for t13. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. So, on Tuesday we're going to have the full-anatomy unltrasound and then we'll have to decide whether we want to move forward with amnio or not. IF I had been told that a) its not reliable for edwards and b) knew about all of the other chromosome issues that could be possible we would NEVER have wasted 400 on a harmony and spent weeks bonding with a really poorly baby who would not have made full term. Any advice would help or if someone has had similar experiences. It's a very slim chance. 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/. Your genetic counsellor will tell you if you are eligible for a genetic test. I wish I'd never had that quad test done x, Based on what you know of the quad test, with a low risk NIPT and no abnormalities seen at 20 weeks the chance of your baby having DS would be very slim. It was so helpful. It has also caused me alot of anxiety. 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. It's mainly used to screen for Down's Syndrome and two. Create an account to follow your favorite communities and start taking part in conversations. It's Just so hard to overcome when it happens to you. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I do wonder at their claim of 99% pick up of DS, when from what I'm reading 4% of DS are translocations, there is also the possibility of mosaic DS being missed. Healthy is the most importantnot chromsomally-typical. Totally typical. But that isn't the case for rarer conditions like Turner Syndrome. Met with a genetic counselor yesterday and she confirmed what you said. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". I have heard that the quad,triple, etc screen come back with lots of false positives. The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. Thank you! Right now we have a 1 on 20 chance of DS that's why we did the harmony. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. 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. I snapped a photo of the ultrasound report and researched it myself. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Still at a loss about what to do for the best, Claire called her aunt. I will tag your post with POST FLAIR on your actual post. You can ask your midwife to refer you in to perinatal mental health or even self refer if in England to counselling which is fast tracked if pregnant or postnatal. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. I live in Canada, and did Panorama by LifeLabs. My dr said I have a choice to have the harmony or do an amino. My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? Just over a week later, while Claire and her husband were on holiday in France, the phone rang. Reddit and its partners use cookies and similar technologies to provide you with a better experience. 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 I would say with a negative test and no strong markers you should be fine getting a define test sounds like it will put your mind at ease and let you enjoy your pregnancy. I hope that helps, if there's anything else I can help wit please ask x. 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. 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. 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. 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. Though for women who have had fertility support, an earlier ultrasound may be done. not sure which ones you have. im glad you see the reality! 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 had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. 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/. 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. LO is 6 months on Sunday and is perfect! Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. My OB says she has not seen it but since this testing is so new the sample size is not huge. Hey everyone. Processed at TDL London. To comment on this thread you need to create a Mumsnet account. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. For more information, please see our For five years, Claire Bell's husband was treated for two types of cancer. And the only way to check for that is an amnio. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. Good luck and stay in touch with your results! Haha sorry I was typing fast on my phone. , Thank you for your reply! So far his muscle tone is pretty good. Firstly thank you so much for your reply, I appreciate it so much! Baby has mosaic DS. 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. Apparently my doctor was given that information, but didnt look at it. Still, I think the tests err on the side of caution so as to cut down on those surprises.. its great to hear he is doing so well.
Tunneling Socket Could Not Be Established 503, Linear City Examples In Canada, When Does School Start In Missouri 2022, Nhl Prospect Tournament Stats, Articles H