If so at what week? Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. we had low risk with our NIPT results from Harmony. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. 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. 20062023 BabyCenter, LLC, a Ziff Davis company. @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. MaterniT21 positive for Down Syndrome. 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. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. We go through life and any manner of things can crop up down the line. I know of two false negatives for t21 via nipt. 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. Of course now I'm worrying myself sick that it might be a false negative and I read somewhere that NIPT tests for women under 35 are not as accurate. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. Are you glad you had the amnio? So many people told me it would most likely be a false positive because I had normal scans. They are testing my husband now. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. You can ask your midwife to refer you in to perinatal mental health or even self refer if in England to counselling which is fast tracked if pregnant or postnatal. Update from my end. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. I had never heard of mosaic until I started researching reasons for false negative NIPT results. Please feel free to reach out if you need to vent, ask more questions or need more resources. I am a bot, and this action was performed automatically. The advertise a very low false positive rating but don't mention the false negatives. is anyone worried about false negatives with the harmony or panorama test. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) i hate the way society views ds. I got the FISH results from my CVS back already, and it is also negative. It was Harmony, no issue with fetal fraction/BMI etc. Thank you for your response. That makes sense. I have been told that they arent 100% but can feel pretty confident in the NIPT. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. In response to the increasing availability of the NIPT test, England's Care Quality Commission started carrying out inspections of clinics and hospitals in England - Health Improvement Scotland has also said it currently regulates two services which offer pre-natal testing, In a statement, the CQC says: "We expect providers of NIPTs to ensure that women fully understand the procedure, know that it is not a diagnostic test, are informed about the possible outcomes, and that appropriate support is made available when delivering the test results. Note that once you confirm, this action cannot be undone. But in many cases, it is still most likely that your child is perfectly fine. I really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. 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. The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. Please read top 2 pinned posts & automod message for information about the screen and your result. ", Want help? 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. First time pregnancy here.Im 32 years old living in Canada. Your post will be hidden and deleted by moderators. Human chorionic gonadotropin (HCG), a hormone made by the placenta Harmony is what I took! Waiting on our CVS results we did Friday. Hey there Im so sorry youre here. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. I am 22 and currently 13w, this is our first pregnancy. 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. Haha sorry I was typing fast on my phone. But obv that will depend on how he is symptom wise etc. I never even knew there were different types of Down syndrome. False negatives are a lot rarer. I'll take 1 in 70,000 any day over 1 in 7 Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. 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". What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Now I stick with some support groups on Facebook because while there is sick kids you also see a lot of happy and healthy kids too. 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. 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. 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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. "And besides, we are from strong Yorkshire stock. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. She wanted to eliminate other chromosomal issues not picked up as well on NIPT, so I eventually agreed to amnio at 28weeks where the risk was more of prematurity than miscarriage. yes same here. "The thought that I could have terminated this pregnancy, that it crossed my mind to terminate, that is" she says, pausing to find the right words. 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. The answer was, they didn't do this. "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' 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. Thank you for sharing this. Thank you!! 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. Im in the same boat as you tho I had the ultrasound with the markers which gave me 1:3 chance with my age and then took the Harmony test which came back less than 1:10,000. Still at a loss about what to do for the best, Claire called her aunt. I could c the needle come in, while baby happily kicked about as usual. Mumsnet carries some affiliate marketing links, so if you buy something through our posts, we may get a small share of the sale (more details here). had the result before 30 weeks, so have had time to process, which is good I think. I hate that I'm latching onto this one little thing as my ultrasound was nearly perfect and I had an NIPT test at 10 weeks which came back as low risk. If youre still worried, go for the amnio. If the sonos are normal I always ask people wait for an amnio. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. I know exactly how you feel. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. My 20 week scan was fine no abnormalities detected. Check it out. What are the knowledge areas and process group in project management as per PMI? our test came back negative across the board. I was told the accuracy of the test is 99.9% or something like that. 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. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. Though for women who have had fertility support, an earlier ultrasound may be done. "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. Not held to a set schedule do this 22 and currently 13w, this action was performed automatically that... Life and any manner of things can crop up down the line posts... 4D scan booked next week hoping this settles my nerves abit too had never of! 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