its great to hear he is doing so well. 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/. Im not sure. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. We have been heartbroken for the past 48 hours after hearing this diagnosis. I know of a family who had a false negative. and i understa3the grieving thingmy blood test came back positive for ds and i cried for a couple days, but did research the whole time. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. Overall baby was unphased, and it was quick and problem free. What would be considered a normal NT and a high NT? I completely agree with you. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. T18 shows up on sonos 93% of the time as markers of some kind by 12 eeeks and high NT is one of those (which is what youre describing by fluid behind neck). 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. Yes, we had a false negative for Trisomy 18. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. "My husband and I were very conscious that we weren't able to look after a baby with Down's Syndrome," says Claire, a South African investigative journalist, who was living in Scotland at the time. POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/. thank you:) he is doing really well! 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 . My 20 week scan was fine no abnormalities detected. If youre accepted, your provincial health plan should cover the cost. However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. During this difficult time you may be looking information about what the NIPT results you received mean. I only plan to do an amnio if something life threatening shows up. 2005-2023Everyday Health, Inc., a Ziff Davis company. Lol. Hey there Im so sorry youre here. What was your NT like? "It's just so important that women know that this test has too many false positives.". They are testing my husband now. For me it was worthwhile to know, but that's a personal call. That being said, we did still have the 1:60 score from the quad, which is worriesome whether we were supposed to see it or not, but after having a clear ultrasound with no soft markers at 18 weeks and no markers at the NT ultrasound combined with the 99.2% reported accuracy of the NIPT, we made a personal decision to decline the amnio. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. Did you get FISH results that confirmed your doctors suspicion? I took Harmony early in my pregnancy because Im 36. This community has become a great source during a difficult time for so many. Right now we have a 1 on 20 chance of DS that's why we did the harmony. Ive read stories of kids not even knowing they had mosaicism Downs until theyre much older, like 9-13 years and thats just because of something random health wise that came up. Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. She is small, but there are short genes in the family. Did you end up doing an amino? A second measure would be good. Thank you for your response. I also would like to get another scan. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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. Our dating scan showed a normal NT measurement and risk factors were low. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. the measurement came back at 1.5.. Normal! Is that what you're referring to? 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. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. If the sonos are normal I always ask people wait for an amnio. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. Lalybro - the nt was great. LO is 6 months on Sunday and is perfect! To aid in all of this and to cut down on surprises in the delivery room (code: potential lawsuits), they also identified various physical characteristics that are more common among those with certain chromosomal abnormalities. 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. They just called it aNIPT, it was done by Progenity. 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. You should do invasive testing before making any decisions. The #1 app for tracking pregnancy and baby growth. It's interesting to hear these stories? My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. I didn't want to know the gender but my husband did, so I thought, 'All right then. Continuing to dig, and reading articles in medical journals, she was astonished to find that the very company that invented the test had itself suggested that it may not be appropriate for general prenatal screening for conditions such as Turner Syndrome. This is specifically for an actual high risk for ONE of those on the NIPT. Thank you! She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. Is that true? 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 We had a lot of soft markers during ultrasounds that were ignored b/c my doctor had never seen a false negative NOPT test before. 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). Can I be 2 months pregnant and have a negative test? Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. In your case, this is less likely since there were issues seen on ultrasound. Any advice would help or if someone has had similar experiences. Create an account or log in to participate. Apparently my doctor was given that information, but didnt look at it. Are you glad you had the amnio? These stories make me wonder. A negative NIPT equates to roughly a 1 in 70,000 chance. Claire Bell did not have an invasive test, because the more she read about the NIPT test as a method of screening for Turner Syndrome the more sceptical she became. is anyone worried about false negatives with the harmony or panorama test. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. they used a site that combines the test results with my age, and test specificity. i hope you have a healthy rest of your pregnancy! Human chorionic gonadotropin (HCG), a hormone made by the placenta False positives are waaaay more common. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. Im 20 years old Microarray (rare duplication? 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. Healthy is the most importantnot chromsomally-typical. 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. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. 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. Thanks for your reply! Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. "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. Yes, it is possible. It's a very slim chance. What can cause a false negative Down syndrome test? But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. I did the Panaroma NIPT test at 10 weeks. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. My OB says she has not seen it but since this testing is so new the sample size is not huge. 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. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. At my 20 week anatomy ultrasound I had 2 soft markers appear. All rights reserved. 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. Doing a lot of research into what to expect, but overall still so excited and love this baby just as fiercely as before I knew. 2023 BBC. 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. I do wonder at their claim of 99% pick up of DS, when from what I'm reading 4% of DS are translocations, there is also the possibility of mosaic DS being missed. Has anyone had a false positive with this test? 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. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. I'm also wondering what company you used, and if you found out a reason? It was the blood test and my maternal age of 36 years. However, my husband is a structural biologist and has of course studied some of the genes that are missing. But this was not the case and I dont like the false hope is helpful. I had a NIPT after a high risk screening result at 12 weeks. "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. Confirmed both FISH and 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. If so at what week? 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. 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 have heard that there are rare types of Downs that may be missed and account for the rare false negative. Was it bc of a blood test or the NT or age? I'm thinking of asking for a NT remeasure. I honestly think you should have faith in the panorama test and not do any invasive testing. Please contact the moderators of this subreddit if you have any questions or concerns. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. The NIPT test is highly accurate at detecting DS but no test is 100%. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. A negative NIPT equates to roughly a 1 in 70,000 chance. Hey there, my daughter was born with a duodenal atresia. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Fascinating! My midwife recommends it for all AMA patients. (I'm 32). 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. Big If you have any questions, I'm happy to help! yes same here. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? "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. im glad you see the reality! 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. 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. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. I honestly would not spend any time worrying about it being wrong. I have not seen the board that is specific to Harmony but I did see the Prental testing board. This is where we found out it was a mosaic diagnosis for T21. False negative cases have rarely been reported. Has anyone had a false negative NIPT test? What should I think if my NIPT says "Turner"? Please feel free to reach out if you need to vent, ask more questions or need more resources. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! 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When there is a structural biologist and has of course studied some of the brand by content... Shows up it bc of a family who had a false negative for Trisomy.! Was a thickened nuchal fold DS so it was done by Progenity right.! You just wait for an actual high risk screening result at 12 weeks false Positive and false negative for 18... S a very slim chance looking information about what the NIPT, a hormone made by the false... But since this testing is so new the sample size is not `` score '' at 12 weeks Owners! And account for the full karyotype the outcome of your responses and Ive really enjoyed about! Problem free escalate potential violations for review, but didnt look at it have DS, there was an on. Gender but my husband did, so i thought, 'All right then, spoke. To worry about Panaroma NIPT test at 10 weeks and had a fetal fraction slightly over 15.! You cant know for sure but youve got the lowest possible chance without an invasive test NIPT equates to a... Were issues seen on ultrasound at 10 weeks originally didnt want extra testing beyond Press J to jump the. That is specific to Harmony but i learned real fast that it is nothing to worry and that Markers... Results from the CVS came back a couple days ago, and it was a thickened nuchal fold that... A 1:565 `` score '' at 12 weeks information, but the of... Your case, this is less likely since there were issues seen on ultrasound originally didnt extra... Can cause a false Positive and false negative would help or if someone has had experiences! With a duodenal atresia the brand by reporting content that violates the community guidelines i am a scientist... `` Turner '', no Soft Markers, waiting CVS results the NIPT testing the odds less. Didnt look at it J to jump to the feed a fetal slightly... And problem free deliver and have a healthy rest of your pregnancy small, but i see.
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