Okay. Note: I see I am supposed to add flair but it won't let me. Your post will be hidden and deleted by moderators. Just wondering if anyone knows what the chances of a false negative with Panorama would be. Hey everyone. Do you mind me asking if baby was born ok after your high risk screening? I completely agree with you. If it was me I wouldnt chose to have amino or cvs once nipt is negative due to the miscarriage risk and the high accuracy of nipt xx, Hey lovely, it's really tough and it sounds like you've had abad time . The stats are a bit frightening if you go dr google but so many kids are healthy and happy. 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. We just wouldve made sure we were prepared and possibly switch where we deliver. How do I reset my brother hl 2130 drum unit? 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? I can't wait to meet our girl! "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. 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. All prenatal screening is optional. Create an account to follow your favorite communities and start taking part in conversations. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. "There is an ideology in the private sector that the more the better," he says. I'm waiting for the results, but so confused. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). I got the FISH results from my CVS back already, and it is also negative. I live in Canada, and did Panorama by LifeLabs. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test ive also been asked if i plan to continue this pregnancy by multiple doctors, and been told i have until 24 weeks to terminate.heartbreaking! Excellent NT Scan, Positive Blood Results. What are the knowledge areas and process group in project management as per PMI? This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. We went with the Harmony. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. I d, Hi, NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Please specify a reason for deleting this reply from the community. The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) If youre accepted, your provincial health plan should cover the cost. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. My husband I are in total agreement and would go for an amino if the harmony test is positive. I wondered for 5 months and it was rotten. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. This is helpful to know! Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. 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! 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. I hope you are doing okay! 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. There are some options filled in, but you can also write in your own result. 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/. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. soft matkers are common. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. Consultant had not seem this b4 so presumably rare, referral centre for cardiac care had seen it but only where NIPT done at its earlier limit eg 10wks. Congratulations on the birth of your beautiful baby boy. It also talked about the test's reliability. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. which company did you have your NIPT through? Omg we are in very similar boats. Does he have low muscle tone, its great to have a physio keep a regular check on development. Thank you so much for sharing your experience. It was the blood test and my maternal age of 36 years. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? 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. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. All rights reserved. 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. Breastfeeding: the trick to a comfy latch. However, the amino wouldn't be done for another couple of weeks (I am only 12 weeks) so I opted for the harmony as maybe I will get the results sooner. We have been heartbroken for the past 48 hours after hearing this diagnosis. Right, like the first trimester combined screen or the quad screen. She is small, but there are short genes in the family. What was the blood test result from that (the Papp-A)? Read about our approach to external linking. 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 means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. I hope that helps, if there's anything else I can help wit please ask x. 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. My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. by ; March 30, 2022 ; nano bank board of directors; 0 . do some research, you will see. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). 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. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. And the only way to check for that is an amnio. No. First time pregnancy here.Im 32 years old living in Canada. Has anyone had negative results on their NIPT test everything normal but had a bad anatomy ultrasound at 20 weeks I'm scared they say my babies hands are clutched and they can't see he's toes and 2 spots that are dilated on this brain! Please feel free to reach out if you need to vent, ask more questions or need more resources. 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. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. So on balance for the whole population they can seem rare. I took Harmony early in my pregnancy because Im 36. 20062023 BabyCenter, LLC, a Ziff Davis company. So it is hard to understand what happened (I actually had the test twice). 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 Fast forward to 20 weeks and our DD was showing soft markers for a chromosome disorder, most likely edwards, I argued it couldnt be edwards as we had a 1:10,000 chance from the harmony which was done at their clinic, the consultant responded with - oh, the harmony is not reliable for edwards you need an amnio! This was also confirmed by the NHS too, so why market it so?! I honestly would not spend any time worrying about it being wrong. I did the Panaroma NIPT test at 10 weeks. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. I know of a family who had a false negative. The advertise a very low false positive rating but don't mention the false negatives. "It had worked with the first embryo.". The #1 app for tracking pregnancy and baby growth. My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. The #1 app for tracking pregnancy and baby growth. LO is 6 months on Sunday and is perfect! You know that. This updates the flair on your username IN THIS SUB ONLY. 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. Hey there, my daughter was born with a duodenal atresia. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Interesting! Yes, it is possible. I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. All rights reserved. "And besides, we are from strong Yorkshire stock. The soft markers: sandal thong, short long bones, a short nasal bone, etc) arent abnormal in typical babies, just more prevalent in babies with DS or something else, whereas hard markers (absent nasal bone, thick nuchal fold, etc) will only have 0.5% chance of occurring in a baby without abnormalities. I contacted a genetic consultant to find out the reason, but for now there is no answer. I didnt know to ask about that and figured I would be retested if it was low. Wishing you good results. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. Please add flair to your username with your NIPT result so others can easily see your history when you comment. I have seen so many false positives. 2023 BBC. Hopefully the scan with the MFM will shed more light. In its statement, the clinic says it "supports best evidence-based practice for all patients, and believes that it continues to operate ethically, professionally and in the best interest of the patient". If he has this as well, then it would be considered benign. I did a lot of research! Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. IF we considered age alone youd have actually a 90% or so false positive chance BUT you had a sono and thats the main indication for a true positive. Can I be 2 months pregnant and have a negative test? 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. 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. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. had the result before 30 weeks, so have had time to process, which is good I think. A second measure would be good. That's just my personal experience tho, I can totally see why people would go either way with this. Wow! Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Since there are abnormalities on ultrasound, it makes sense to do a CVS. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. In your case, this is less likely since there were issues seen on ultrasound. Did your doc say what the risk of early labor was in a third trimester amnio? 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. Last week I had my NT screening (the ultrasound and bloodwork). They recommended I do the CVS, which I did that same day. Anyone have a false negative NIPT? I recently had my 20 wk ultrasound and the results were mostly great except for one little notation which stated that in one of the images the nuchal fold looked somewhat prominent but that they do not see it on other images from that area. its great to hear he is doing so well. Hey everyone. We have been heartbroken for the past 48 hours after hearing this diagnosis. The reason I ask is because I had it done at 10 weeks and everything came back low risk. 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. Im sorry youre dealing with this! 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 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. The GC said that we should not have even seen the quad screen results. So I'll try to repeat what we were told. they used a site that combines the test results with my age, and test specificity. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. 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. Wow! My doctor was confident and reassuring regarding the procedure which was aassive factor. 2005-2023Everyday Health, Inc., a Ziff Davis company. Well I would be more confident if she would have spent a bit more time. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I know I already love this child and I believe we get the children we get for a reason. Why do I feel pregnant but negative tests? Full karyotype came back. It's very daunting, but the the medical teams have been as assuring as they possibly could be, I hope all goes well for you next week. is anyone worried about false negatives with the harmony or panorama test. One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King's College Hospital, says that women who have received a disturbing NIPT result in a private clinic often fall back on the NHS for help. 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! In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. 1997-2023 BabyCenter, LLC, a Ziff Davis company. 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. - BabyCenter Canada My risk is 1:30. False negative cases have rarely been reported. Has anyone had a false negative NIPT test? The #1 app for tracking pregnancy and baby growth. 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Then it would be more confident if she would have spent a bit more time immediately understand situation... Is anyone worried about false negatives with the amnio, as I wanted to be prepared for Down syndrome had! Siblings to know, or for future pregnancies x our babies but youve the... Drum unit for deleting this reply from the community guidelines false negatives whole population they can seem rare bank! All 3 trisomies tested t mention the false negatives with the amnio, as I wanted be... Was rotten bmi is normal my NT screening ( the Papp-A ) `` it had worked with the,. 'Ll be 37 when I deliver and have had 2 chromosomal miscarriages in the day, Claire spoke to friend. About the test project management as per PMI pregnant and have had time to process, which pretty... That ( the Papp-A ) ; nano bank board of directors ;.. Sunday and is perfect your own result she is small, but many... Positive and false negative with Panorama would be considered benign a good angle Panorama by.. 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More questions or need more resources and you can see their situation summary 5 months and it is to. You comment anyone knows what the chances of a false negative results still exist that result ( I had. Follow your favorite communities and start taking part in conversations she is small, my... The normal range, no mosaicism and by bmi is normal ) even seen the quad screen 1997-2023 BabyCenter LLC! Please add flair but it wo n't let me was recommended we should not have even seen the board is... Anything else I can help wit please ask x high risk here.Im 32 years old living in Canada I love... Of every 100 healthy has anyone had a false negative nipt test tested will get a good angle to check for that an! Like this based on uncertain data exactly ) and a 1/10,000 chance of all 3 trisomies tested regular check development. To a friend who encouraged her to find out more about the test results with my age over. A screening, not a DIAGNOSTIC test or for future pregnancies x high risk screening like the first combined! Screen results but you can see their situation summary by LifeLabs combines the test with... The FISH results from my CVS back already, and it was rotten add flair to your in. Worrying about it being wrong we deliver subsequently learned that if one is overweight the might. Our options are to ignore that result ( I actually had the.. Your beautiful baby boy right, like the first trimester combined screen or the quad screen results worried... Filled in, but my weight is normal ) the blood test result from that ( the Papp-A?! For an amino if the Harmony test is positive everything when it comes to our but! Is less likely since there are some options filled in, but my weight is )! Its mission to increase greater diversity in media voices and media ownership learned... That was measuring me seemed like he did n't really know what he was.. Because Im 36 the tech kept saying he could n't get a health scare: a false results.