thank you:) he is doing really well! 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. I had amnio at 28weeks due to my worry about the risk of miscarriage, and as my consultant said the risk then was for prematurity but baby had an excellent chance of surviving if the worst had happened and I went in to labour. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. The #1 app for tracking pregnancy and baby growth. Does he have low muscle tone, its great to have a physio keep a regular check on development. Thank you for sharing this. "I just remember thinking this is science, this is fact I couldn't stop crying, I couldn't walk more than 200m at a time, I just felt hopeless.". I'll take 1 in 70,000 any day over 1 in 7 The NIPT test is highly accurate at detecting DS but no test is 100%. wven when they told me about the soft markers it was with a frown and an im sorry. Since there are abnormalities on ultrasound, it makes sense to do a CVS. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Yes, we had a false negative for Trisomy 18. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. I need to take control and stay positive! Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. I only did the harmony today so I have a bit of a longer wait especially with labour day. I was told the accuracy of the test is 99.9% or something like that. No. She had DS and that was the least of our worries. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. 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. If you have any questions, I'm happy to help! I just did the nipt test and I am not concerned about having false negatives. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Overall baby was unphased, and it was quick and problem free. I'm unclear. 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. To comment on this thread you need to create a Mumsnet account. 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. You should do invasive testing before making any decisions. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has "a high failure rate" - a low detection rate and a high false positive rate. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. blood test is more accurate. I wondered for 5 months and it was rotten. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, If he has this as well, then it would be considered benign. For more information, please see our 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 feel like it's creeping up on me again. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. 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. Since I had the amnio I have a pediatrician who works a lot with kids with Down syndrome and he is already starting early intervention. "It's just so important that women know that this test has too many false positives.". 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. Create an account or log in to participate. 31/08/2021 12:14. It can take up to 2 weeks to get the result of your NIPT. Met with a genetic counselor yesterday and she confirmed what you said. Or did you just wait for the full karyotype? The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. I'm also wondering what company you used, and if you found out a reason? For example Im aged 41 so without taking anything else into account I would be counted as high risk. Our son just turned 1 and hes doing fantastic!!! I took Harmony early in my pregnancy because Im 36. 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 called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. The soft markers: sandal thong, short long bones, a short nasal bone, etc) arent abnormal in typical babies, just more prevalent in babies with DS or something else, whereas hard markers (absent nasal bone, thick nuchal fold, etc) will only have 0.5% chance of occurring in a baby without abnormalities. 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. My doctor was confident and reassuring regarding the procedure which was aassive factor. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. and the stats are so upsetting to me too.70% of americans that find out their baby will have ds terminatei truly think its bc of the way the doctors deliver that news, basicalky offering an abortion in the same breath. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. The NIPT also came back positive for Down syndrome. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I would try not to worry about it (I know thats easier said than done). - BabyCenter Canada The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. 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. Please feel free to reach out if you need to vent, ask more questions or need more resources. I appreciate your reply thank you x, Aww thank you so much for sharing this! A negative NIPT equates to roughly a 1 in 70,000 chance. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). Please specify a reason for deleting this reply from the community. 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. Our son just turned 1 and he's doing fantastic!!! Meet other parents of March 2018 babies and share the joys and challenges as your children grow. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. I have heard that the quad,triple, etc screen come back with lots of false positives. Please whitelist our site to get all the best deals and offers from our partners. It's extremely rare! But for t13. apparently they suck at looking for anything other than trisomies. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. I did the Panaroma NIPT test at 10 weeks. I have wondered the same thing! Fact Most people who have a screening test will have a negative result, meaning that the baby has a low risk of having Down syndrome. It's mainly used to screen for Down's Syndrome and two. 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. It was not sore as such just more of a weird pressure feeling. 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. I know of a family who had a false negative. Is there room to get my hopes up based off of my age? I didnt know to ask about that and figured I would be retested if it was low. I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. 2005-2023Everyday Health, Inc., a Ziff Davis company. Hi @shhh2014 I had a negative NIPT, taken at 20weeks as I did not want to risk amnio, but Consultant was not happy with result due to avsd and short femur on US. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. 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. My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. The reason I ask is because I had it done at 10 weeks and everything came back low risk. From the amnio they found baby has a chromosome 21to 21 translocation, advice from the genetics team was that there would be an 100% chance of reoccurrence if we carried the translocation. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. It also talked about the test's reliability. Reddit and its partners use cookies and similar technologies to provide you with a better experience. The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. I no longer see that doctor. Hey there, my daughter was born with a duodenal atresia. They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed. All prenatal screening is optional. My doctor cud tell from US that my uterus had not contracted during the procedure, so I was allowed leave quite quickly-- I think if there was contraction they wud have kept me a whole to make sure it settled down. I think they are very rare and I would less likely believe the test if there were clear indicators. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. But my NT was elevated at 3.3. I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). 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. 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. 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. Excellent NT Scan, Positive Blood Results. Please specify a reason for deleting this reply from the community. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? Do you mind me asking if baby was born ok after your high risk screening? our test came back negative across the board. 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. 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