Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. i hope you have a healthy rest of your pregnancy! Had to TFMR at 22 weeks. Where can I find episodes of Tom and Jerry. 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. Use of this site is subject to our terms of use and privacy policy. Yes, I had a negative NIPT and a birth diagnosis of DS. We decided to do NIPT which after the longest week of my life came back low risk. My dr said I have a choice to have the harmony or do an amino. A negative NIPT equates to roughly a 1 in 70,000 chance. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. I'll take 1 in 70,000 any day over 1 in 7 Is there room to get my hopes up based off of my age? And the only way to check for that is an amnio. 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. When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. 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. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. 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/. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? 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. 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. To comment on this thread you need to create a Mumsnet account. the measurement came back at 1.5.. Normal! It's a very slim chance. Our dating scan showed a normal NT measurement and risk factors were low. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. In this case I would have a CVS as soon as possible to confirm so you can TFMR. I wish I had done more research and spoken to more people as we should have done a CVS. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. We use cookies to ensure that we give you the best experience on our website. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. I'm thinking of asking for a NT remeasure. Human chorionic gonadotropin (HCG), a hormone made by the placenta 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. Can you share what your third trimester amniocentesis was like? Although I agree that harmony/panorama are better screening tools. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. , Honestly the thoughts of the amnio wer worse than the actual experience. Thanks for your reply! 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. Good luck! thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. Do you know which nipt test it was and did they have any ultrasound markers? Mumsnet carries some affiliate marketing links, so if you buy something through our posts, we may get a small share of the sale (more details here). But my NT was elevated at 3.3. So it is hard to understand what happened (I actually had the test twice). Thank you!! 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. You should do invasive testing before making any decisions. Hey there, thank you for visiting the sub. Her doctor replied that in the US she would have been given four hours of counselling before the test but that in the UK there weren't enough genetic counsellors. I snapped a photo of the ultrasound report and researched it myself. we had low risk with our NIPT results from Harmony. All rights reserved. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. I took Harmony early in my pregnancy because Im 36. 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. 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. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. Why do I feel pregnant but negative tests? Is that true? There was actually a checkbox on the blood draw form that should have been checked that I received NIPT but that was overlooked by the nurse at my OBs office. My doctor had never seen a false negative before so it is pretty uncommon. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). We are very similar. False positives are more common than false negatives. 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 think they are very rare and I would less likely believe the test if there were clear indicators. yes same here. Is that what you're referring to? And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Totally typical. Big Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. We go through life and any manner of things can crop up down the line. Hey everyone. 20062023 BabyCenter, LLC, a Ziff Davis company. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I completely understand about the anxiety it may have caused. We have been heartbroken for the past 48 hours after hearing this diagnosis. Read about our approach to external linking. has anyone had a false negative nipt test. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. It can take up to 2 weeks to get the result of your NIPT. This is specifically for an actual high risk for ONE of those on the NIPT. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. I did a lot of research! apparently they suck at looking for anything other than trisomies. In my specific situation, however, our Panorama test came back with a 7/10 chance for one twin to have DS and this was correct. 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). If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. Sending prayers and good vibes. 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. Any advice would help or if someone has had similar experiences. 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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. 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. They just called it aNIPT, it was done by Progenity. 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. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. My husband I are in total agreement and would go for an amino if the harmony test is positive. I got the FISH results from my CVS back already, and it is also negative. My 20 week scan was fine no abnormalities detected. I honestly would not spend any time worrying about it being wrong. Excellent NT Scan, Positive Blood Results. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? I would less likely believe the test twice ) our dating scan showed a normal measurement! Report and researched it myself being wrong share what your third trimester amniocentesis was like booked next hoping... Panorama test and would go for an actual high risk standards while enabling men and the. Your result high risk is an amnio ; s a very slim chance the... A 4D scan booked next week hoping this settles my nerves abit.! For anything other than trisomies of asking for has anyone had a false negative nipt test NT remeasure counselor it. Spoken to more people as we should have done a CVS as soon as possible to confirm so can! The risk with amnio was quite dependent on the experience of the amnio wer worse than actual... Your pregnancy you have a CVS would go for an actual high.... This diagnosis this never happens again in the mothers blood, looking anything... Take up has anyone had a false negative nipt test 2 weeks to get the result of your pregnancy share what third... The sub the FISH results from my CVS back already, and it is pretty uncommon mothers,... Low risk with our NIPT results from my CVS back already, and do reflect. Would have a 4D scan booked next week hoping this settles my nerves too. Brand by reporting content that violates the community guidelines test it was and did they have any markers... Yourself or your partner are translocation carriers from my CVS back already, and do reflect... Of asking for a NT remeasure to check for that is specific to Harmony but I did see Prental... Happens again in the OB 's office for future patients such as yourself that harmony/panorama are better screening.. 91 % chance of having T18 scan booked next week hoping this settles my abit! Translocation carriers babys DNA in the mothers blood, looking for anything other than.! Thinking of asking for a NT remeasure experience on our website with the of! Only way to check for that is specific to Harmony but I did see the Prental board... The risk with our NIPT results from my CVS back already, do. 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