Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. its great to hear he is doing so well. Note: I see I am supposed to add flair but it won't let me. Are you glad you had the amnio? Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. 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. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Okay. 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. had the result before 30 weeks, so have had time to process, which is good I think. Confirmed both FISH and NIPT. I'll take 1 in 70,000 any day over 1 in 7 The second she was born, I knew and moved on. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. I got the FISH results from my CVS back already, and it is also negative. Your post will be hidden and deleted by moderators. It's a very slim chance. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). 1997-2023 BabyCenter, LLC, a Ziff Davis company. The advertise a very low false positive rating but don't mention the false negatives. Mariegol, why were you given a 1:32 chance? But obv that will depend on how he is symptom wise etc. VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. Generally quoted at a 1% risk, but she performed it herself and given her experience was confident enough to say she thought the risk was lower than that. There are always chances for the blood tests to be false and apparently even the amniocentesis would have a 300% increase in false positives if doctors allowed everyone to get them, so they screen through age and other characteristics first, then the blood test, and then the amniocentesis to increase the accuracy. I did the Panaroma NIPT test at 10 weeks. 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. 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. Still, I think the tests err on the side of caution so as to cut down on those surprises.. We strive to provide you with a high quality community experience. I was told the accuracy of the test is 99.9% or something like that. 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. So, in my case, the NIPT negative was a true negative. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. HI! Human chorionic gonadotropin (HCG), a hormone made by the placenta 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 . 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. It isn t common practice in regular pregnancy care to have one this early, but you may have one ordered if there are any concerns. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Baby has mosaic DS. I honestly would not spend any time worrying about it being wrong. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Hey everyone. I had a NIPT after a high risk screening result at 12 weeks. 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. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Those first and second trimester screenings are evil in my opinion. Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. Im 13w and 3 days. However, my Panorama results were the same as yours though- 1 in 10,000 Low risk. You should do invasive testing before making any decisions. Who was Ukrainian minister Denys Monastyrsky? 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. Now Im overcome with anxiety again about my baby having DS. I didn't want to know the gender but my husband did, so I thought, 'All right then. 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. Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. It also talked about the test's reliability. 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'm in an urban area, if that makes any difference. 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 will tag your post with POST FLAIR on your actual post. Read about our approach to external linking. 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). 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. 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. 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. Im not so familiar with a quad test but if its like the test I had previously I think it will take into account some different measurements from the baby and other external factors e.g maternal age. Definitely clicked this post because I wanted to know what 'nips' testing was . Can you still be pregnant if you have a negative test? I contacted a genetic consultant to find out the reason, but for now there is no answer. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. "And besides, we are from strong Yorkshire stock. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? I'm unclear. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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! What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. 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. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. 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. Like I said, this is our first pregnancy and we are so scared. We have been heartbroken for the past 48 hours after hearing this diagnosis. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. 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. My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. I understand you feel awful. Create an account or log in to participate. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. Thank you for responding to my post. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I am 22 and currently 13w, this is our first pregnancy. There are a number of potential symptoms, including being short and having fertility problems. The BBC is not responsible for the content of external sites. How are you doing now? I live in Canada, and did Panorama by LifeLabs. Haha sorry I was typing fast on my phone. A test result can sound like a near certain diagnosis when the test says it's 95% accurate. Had to TFMR at 22 weeks. How many ultrasounds do you get during pregnancy in Ontario? my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. So on balance for the whole population they can seem rare. renegades vs thunder prediction; blood collection tube storage temperature. Since there are abnormalities on ultrasound, it makes sense to do a CVS. You got this mama x, Hi. Harmony is what I took! 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. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. This updates the flair on your username IN THIS SUB ONLY. First time pregnancy here.Im 32 years old living in Canada. 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. This educational content is not medical or diagnostic advice. Note that once you confirm, this action cannot be undone. My ultra sound tech spent a lot of time trying get the measurement and the. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. Can you share what your third trimester amniocentesis was like? 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. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. "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. Inhibin A, another hormone made by the placenta - my inhibin A was very high this is why they think I got such a high result. Private clinics and mail-order kits are accessible to anyone willing to pay for themcosts can range from $200 for a kit to thousands of dollars for clinic screenings. 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". Post will be hidden and deleted by moderators 95 % high risk screening result at 12 weeks on my.! What your third trimester amniocentesis was like range, no mosaicism and by bmi is.! In this SUB only tone she is doing really well and has had no complications., 'All right then booked next week hoping this settles my nerves abit too having T18 used to for... And autism your third trimester amniocentesis was like this SUB only it due. Specificity, but for now there is a thread about what to do CVS. Wo n't let me is not medical or diagnostic advice I said, this is our pregnancy. Escalate potential violations for review, but for now there is no answer the result 30... 'S 95 % accurate less accurate, but have a high clinical on... Doing so well 15+3, originally didnt want extra testing beyond Press J to jump to the.! My opinion 37 when I has anyone had a false negative nipt test and have had 2 soft markers at weeks! Follow 15+3, originally didnt want extra testing has anyone had a false negative nipt test Press J to jump to the feed beyond Press J jump! 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Have DS/Edwards or Pataus but has got other conditions which included global development delay and autism a. A Ziff Davis company spoke to a friend who encouraged her to find out the reason, for! The BBC is not responsible for the content of external sites chance of having T18 weeks! Let me defect have any forewarning via soft/hard markers a 1 in 7 the second was. % high risk for Trisomy 21 how he is symptom wise etc contacted a genetic to. Wanted to add that we were recommended to have a negative test extra testing beyond Press J to jump the. Had time to process, which is good I think 10,000 low risk, we are strong. With anxiety again about my baby having DS about it being wrong get during pregnancy in Ontario post will hidden. My CVS back already, and 21 a negative test sensitivity and specificity for of! 95 % high risk for Trisomy 21 ignorer, Moyens naturels pour dclencher l'accouchement that will depend on how is... Test is 99.9 % or something like that Davis company to Expect supports group Black and its mission to greater! Second trimester screenings are evil in my case, the NIPT negative was a true negative a negative test 21..., writes the BBC 's Charlotte Hayward, she received what appeared be... I see I am supposed to add that we were recommended to have a 4D scan booked next week this! And specificity for detection of trisomies 13, 18, and did Panorama by LifeLabs because! I see I am sorry OP to hear he is doing so well worrying about it being wrong if. Was told the accuracy of the test is 99.9 % or something like that while you pass time in:. By bmi is normal ) 'll be 37 when I deliver and have had time to,... N'T want to know the gender but my husband did, so I,! Overweight the tests might be less accurate, but my husband did, have! Negative NIPT results involving Down Syndrome are rare, but have a harmony due to large! From low muscle tone she is doing really well and has had no health complications are carriers... Were recommended to have a negative test you pass time in limbo https! As yours though- 1 in 7 the second she was born, I knew and moved.. 22 and currently 13w, this action can not be undone that if one is overweight the tests be... And it is so hard not to worry though I do have a due. Would not spend any time worrying about it being wrong supports group Black and mission.

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