soft matkers are common. wven when they told me about the soft markers it was with a frown and an im sorry. 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. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. First time pregnancy here.Im 32 years old living in Canada. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. Now Im overcome with anxiety again about my baby having DS. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Good luck and stay in touch with your results! 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. 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. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. It was not sore as such just more of a weird pressure feeling. 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. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. 31/08/2021 12:14. that was as of last Monday. Ukraine interior ministry leadership killed in crash, 'I saw a burning helicopter circling': 16 killed in Ukraine crash, 15 minutes to defend yourself against death penalty. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I feel like it's creeping up on me again. It was the blood test and my maternal age of 36 years. Our son just turned 1 and hes doing fantastic!!! ", Want help? HI! My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. This message is automatically generated for all submissions and might sometimes get it wrong. Please contact the moderators of this subreddit if you have any questions or concerns. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. It's a very slim chance. 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. Can I be 2 months pregnant and have a negative test? DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. 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. 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. "I wanted her to be a whole person in my mind, for me to know her totally before she gets a condition attached to her," Claire says. And the only way to check for that is an amnio. Read about our approach to external linking. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. 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. 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. So, has anyone had a false negative result from the NIPT test? Since one is HMX1, which he said is a building block gene & very important, we are not going to take the chance and are planning to terminate at this point. What are the knowledge areas and process group in project management as per PMI? 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. I'd try to take some peace if it matters to you that you've screened and it's come back OK, but bear kn mind life is a journey. 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. I had a negative NIPT at 14 weeks but at the 20 week ultrasound they found an AVSD so I had an amnio and that is when they diagnosed my son with mosaic Down syndrome- pretty rare as it only accounts for 1-2% of all Down syndrome cases. I had a NIPT after a high risk screening result at 12 weeks. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. I will tag your post with POST FLAIR on your actual post. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. We have been heartbroken for the past 48 hours after hearing this diagnosis. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. 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. I'm also wondering what company you used, and if you found out a reason? 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 means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). I did the Panaroma NIPT test at 10 weeks. What would be considered a normal NT and a high NT? About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). I felt a little sore on the spot for a few hours, nothing much, and once about 24 hours had passed I was relieved it was done and we would know for sure. I also agree about people and doctors and how they view DS. My husband is also familiar with the other duplicated genes, and their roles, and it's just too scary to move forward with the pregnancy knowing everything that could go wrong. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. Are you glad you had the amnio? False negatives are a lot rarer. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. 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. Please whitelist our site to get all the best deals and offers from our partners. She shows no symptoms of Turner Syndrome. Was it elevated at all? It adds: "We will continue to work to professional standards while enabling men and women the right to choose. Statistics are misrepresented every step of the way with NIPT and this is normalised. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. Or did you just wait for the full karyotype? Find advice, support and good company (and some stuff just for fun). Hey everyone. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. Can you share what your third trimester amniocentesis was like? Unlike the NT test which has many shortcomings. Came back negative so we didn't need to do any diagnostic testing. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. 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. My risk is 1:30. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. If youre still worried, go for the amnio. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. I appreciate those who chime in as we all remember how difficult to be in this situation. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. When Claire Bell became pregnant she paid for a test that would indicate whether the baby had Down's Syndrome - and agreed to be screened for some other rare conditions at the same time. Low fetal fraction, high BMI, mosaicism? It was Harmony, no issue with fetal fraction/BMI etc. My OB says she has not seen it but since this testing is so new the sample size is not huge. But was informed its not 100% we decided to wait until my 20 week scan everything was fine and I felt better for a while. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? If youre accepted, your provincial health plan should cover the cost. 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. It's a very slim chance. Was it bc of a blood test or the NT or age? I just did the nipt test and I am not concerned about having false negatives. 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