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. I need to take control and stay positive! I know of a family who had a false negative. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. 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. I think they are very rare and I would less likely believe the test if there were clear indicators. 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. blood test is more accurate. 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. False positives are waaaay more common. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. Yes, we had a false negative for Trisomy 18. Is there room to get my hopes up based off of my age? Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. But this was not the case and I dont like the false hope is helpful. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. It also talked about the test's reliability. Has anybody ever had or seen anybody have a false negative NIPT result? Hey there, my daughter was born with a duodenal atresia. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Good luck and stay in touch with your results! Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. The NIPT test is highly accurate at detecting DS but no test is 100%. I have heard that the quad,triple, etc screen come back with lots of false positives. Can I be 2 months pregnant and have a negative test? Turner syndrome is a chromosomal condition that only affects girls. 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. It was the blood test and my maternal age of 36 years. i hate the way society views ds. Good luck! I am 24 weeks today, so I do feel like its late to do the amnio. Hopefully the scan with the MFM will shed more light. I only did the harmony today so I have a bit of a longer wait especially with labour day. Do you mind me asking if baby was born ok after your high risk screening? I have heard that there are rare types of Downs that may be missed and account for the rare false negative. A US technologist scanned the midline of my bump as the consultant put in the needle, I just focused on baby on the screen the entire time. 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). Was it elevated at all? If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. 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. 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. Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. (Harmony) They still can't figure out why. This is specifically for an actual high risk for ONE of those on the NIPT. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. So, has anyone had a false negative result from the NIPT test? Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. The GC said that we should not have even seen the quad screen results. I'm waiting for the results, but so confused. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. Anyone have a false negative NIPT? It's a very slim chance. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. 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. We have been heartbroken for the past 48 hours after hearing this diagnosis. Im not sure. I only plan to do an amnio if something life threatening shows up. Who was Ukrainian minister Denys Monastyrsky? I honestly think you should have faith in the panorama test and not do any invasive testing. I had some finding with my NT scan and first trimester blood work. I'm in an urban area, if that makes any difference. 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! 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. thats brilliant, some mosaic kids have very little issues. 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. we had low risk with our NIPT results from Harmony. False negatives are a lot rarer. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. I know, when I first found out I went to google and it was terrifying. 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?! "It was this miraculous pregnancy," she says. Hey there, thank you for visiting the sub. I did the Panaroma NIPT test at 10 weeks. The Papp-A came back normal. But obv that will depend on how he is symptom wise etc. PLEASE READ THESE LINKS - this will explain everything. If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. I am sure it will be helpful for him to have supports already in place before he shows any need. We are very similar. Were happy hes doing well too! If so at what week? I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. 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. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. Has anyone had a false negative NIPT test? 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. the measurement came back at 1.5.. Normal! My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. Please whitelist our site to get all the best deals and offers from our partners. Can you still be pregnant if you have a negative test? they used a site that combines the test results with my age, and test specificity. 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. 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. I know exactly how you feel. I feel maybe he should have just retested at a different time. NIPT has been shown in multiple studies to be very good at identifying the most common chromosomal conditions - Down's syndrome, Edwards' syndrome and Patau's syndrome - particularly in women who have a higher chance [1] of having a fetus with one of these conditions. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. 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. "There is an ideology in the private sector that the more the better," he says. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. "In the NIPT test they offer a whole range of conditions that they test for, for which we have no data about how effective and how worthwhile the method of screening is. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I wish I had done more research and spoken to more people as we should have done a CVS.
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