But your so right, life is full of ups and downs and unknown situations. You know that. 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. 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. So, has anyone had a false negative result from the NIPT test? fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). I had a NIPT after a high risk screening result at 12 weeks. Since there are abnormalities on ultrasound, it makes sense to do a CVS. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. Thank you! 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. In June 2018 Claire's daughter, Fintry, was born. She shows no symptoms of Turner Syndrome. To comment on this thread you need to create a Mumsnet account. 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. Who was Ukrainian minister Denys Monastyrsky? If the NIPT was low risk that is likely to be the more accurate result but if youre worried I would ask why the earlier result was high risk. A second measure would be good. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! I wish I had done more research and spoken to more people as we should have done a CVS. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I would try not to worry about it (I know thats easier said than done). I took Harmony early in my pregnancy because Im 36. 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. I honestly would not spend any time worrying about it being wrong. 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. 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. Can NIPT tests be wrong? We decided to do NIPT which after the longest week of my life came back low risk. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? which company did you have your NIPT through? (I'm 32). She signed up for the test at a private IVF clinic. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? Confirmed both FISH and NIPT. My ultra sound tech spent a lot of time trying get the measurement and the. Im so sorry your going through this. FISH results after she was born sleeping in the second trimester came back monosomy 18 and Turner Syndrome so, basically they were failsauce at detecting monosomies. Im 20 years old Microarray (rare duplication? thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. She read on the internet about women whose babies had been judged to be at high risk of Turner Syndrome but who had turned out not to have it. They recommended I do the CVS, which I did that same day. Privacy Policy. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. The NIPT test is highly accurate at detecting DS but no test is 100%. We are had amazing care and every scenario has been looked at and covered to give him the best possible recovery from the surgery he will require after birth. 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. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. apparently they suck at looking for anything other than trisomies. Can I be 2 months pregnant and have a negative test? 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. 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. I understand its a very accurate test, but not 100%. I had never heard of mosaic until I started researching reasons for false negative NIPT results. I know, when I first found out I went to google and it was terrifying. The only thing that was true? Best of luck! Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. 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. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. 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. I completely agree with you. If you continue to use this site we will assume that you are happy with it. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. So on balance for the whole population they can seem rare. The #1 app for tracking pregnancy and baby growth. I was told the accuracy of the test is 99.9% or something like that. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. We were in a daze at the time. The first couple of months are a bit stressful but things do settle down. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. And the only way to check for that is an amnio. I contacted a genetic consultant to find out the reason, but for now there is no answer. Yep 2020, blood sample collected approx 13 weeks ago. 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. i hate the way society views ds. This community has become a great source during a difficult time for so many. 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. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. Note that once you confirm, this action cannot be undone. Find advice, support and good company (and some stuff just for fun). Has anyone had a false positive with this test? 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 Now Im overcome with anxiety again about my baby having DS. its great to hear he is doing so well. I had some finding with my NT scan and first trimester blood work. My 20 week scan was fine no abnormalities detected. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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! FISH results after she . did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? False negative cases have rarely been reported. 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. They were told he wouldn't walk, talk blah blah blah - he does both, is a lovely little boy and he's thriving in a specialist school and is such a fabulous kid. Thank you!! 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. Please specify a reason for deleting this reply from the community. Had to TFMR at 22 weeks. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Best of luck to you. Sending prayers and good vibes. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? I understand you feel awful. This is specifically for an actual high risk for ONE of those on the NIPT. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Hey everyone. She said the NIPTs all use very similar technology, and a negative result one one would almost certainly result in a negative result on the other. 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. But that isn't the case for rarer conditions like Turner Syndrome. Use of this site is subject to our terms of use and privacy policy. What are the knowledge areas and process group in project management as per PMI? Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. Big It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. 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. Was it bc of a blood test or the NT or age? Any advice please . The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. But this was not the case and I dont like the false hope is helpful. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. I want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. Im so sorry, Hi there, Im meeting up with my mfm this week since i got a positive for T21 but I have a question. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. 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. It's extremely rare! Please whitelist our site to get all the best deals and offers from our partners. 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