The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false.. 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. Im sure your little girl will be delighted to be a big sister! I feel maybe he should have just retested at a different time. It has also caused me alot of anxiety. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. ive also been asked if i plan to continue this pregnancy by multiple doctors, and been told i have until 24 weeks to terminate.heartbreaking! There's actually a board on here for those specific NIPT tests. 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. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. But my NT was elevated at 3.3. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. We went with the Harmony. We are very similar. The Papp-A came back normal. Is it possible to be pregnant and get a negative pregnancy test result? I have the same fears you do. 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. Is that true? Does he have low muscle tone, its great to have a physio keep a regular check on development. Came back negative so we didn't need to do any diagnostic testing. used hydraulic press brakes for sale. The NIPT test is highly accurate at detecting DS but no test is 100%. 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. HI! I just had my nuchal translucence ultrasound at 13 1/2 weeks, and the doctor measured an increased thickness in nuchal translucency, which is an indicator of chromosomal abnormality or heart defect. 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. 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. I completely understand and my head hasnt stopped spinning. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Hey everyone. 2023 BBC. 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). think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. I honestly think you should have faith in the panorama test and not do any invasive testing. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. 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. It's interesting to hear these stories? I honestly think that if I had the Harmony after the ultrasound, Id be calm? She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. Thanks, that is really interesting about the mosaic DS. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. Last week I had my NT screening (the ultrasound and bloodwork). But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. 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. 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. I no longer see that doctor. 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. I d, Hi, They were told he wouldn't walk, talk blah blah blah - he does both, is a lovely little boy and he's thriving in a specialist school and is such a fabulous kid. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. You got this mama x, Hi. The NIPT test is highly accurate at detecting DS but no test is 100%. the measurement came back at 1.5.. Normal! I hope you are doing okay! Im sorry youre dealing with this! What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. Its well known that with NIPT, there is a risk of false positive cases due to the fact that the analyzed fetal DNA has a placental origin and another important factor is that placental mosaicism can give discordant, and therefore, invalid results (2630). not sure which ones you have. This educational content is not medical or diagnostic advice. 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. 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. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! Basically, this means that there are 3 copies of a chunk of 30 genes on chromosome 4, and to make matters even worse, it is considered a Variant of Unknown Significance (VOUS) because there are no reported cases of individuals with 3 copies of these genes with disorders/defects. I hope that helps, if there's anything else I can help wit please ask x. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. "It's just so important that women know that this test has too many false positives.". 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. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. The BBC is not responsible for the content of external sites. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. 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. 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. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. 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. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which examines the DNA of tiny particles of the placenta circulating in the mother's blood. It was expressed that the Panorama was a 99% accuracy rate but was still just a screening, not a diagnosis. Did any take both tests? I only plan to do an amnio if something life threatening shows up. 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. 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. If youre accepted, your provincial health plan should cover the cost. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. She shows no symptoms of Turner Syndrome. The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. This limit does not apply to high risk pregnancies. 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. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I agree with you that in a way I think I would be more confident with an amino but it does carry more risk especially if our babies are healthy and our screening tools just aren't that great. We are in the same situation. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. What was the blood test result from that (the Papp-A)? i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. i know, im just saying people with ds are healthy! I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? It was so helpful. I live in Canada, and did Panorama by LifeLabs. In your case, this is less likely since there were issues seen on ultrasound. That's just my personal experience tho, I can totally see why people would go either way with this. Yep 2020, blood sample collected approx 13 weeks ago. BabyCenter may earn a commission from shopping links. She said the NIPTs all use very similar technology, and a negative result one one would almost certainly result in a negative result on the other. We go through life and any manner of things can crop up down the line. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, The #1 app for tracking pregnancy and baby growth. Slipping into journalist mode, Claire talked to the laboratory that tested her blood and asked how often they followed up to find out whether a baby given a test result indicating a high risk of Turner Syndrome actually turned out to have it. If so at what week? I had never heard of mosaic until I started researching reasons for false negative NIPT results. Big our test came back negative across the board. The first couple of months are a bit stressful but things do settle down. My ultra sound tech spent a lot of time trying get the measurement and the. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) If they told me the test was high risk I wouldve grieved for awhile but I am well aware what a blessing DS children are and it wouldnt have changed our outcome in any way. In June 2018 Claire's daughter, Fintry, was born. 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. 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 he's doing fantastic!!! I didn't want to know the gender but my husband did, so I thought, 'All right then. This is helpful to know! The NT was higher at 3.2 so I opted for a CVS. She called back the doctor who had told her about her result on the phone and asked if this could be correct. This educational content is not medical or diagnostic advice. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. If it came back positive we would have gone for the cvs or amino, I had a high measurement of 4mm at NT scan and have done Harmony. Your genetic counsellor will tell you if you are eligible for a genetic test. For me it was worthwhile to know, but that's a personal call. Use of this site is subject to our terms of use and privacy policy. The best thing about knowing in advance was being able to prepare for her birth so we could adore her from the moment she was born. Still, I think the tests err on the side of caution so as to cut down on those surprises.. Thank you!! No. All rights reserved. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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Rate but was still a little helpful 5kg so maybe 4 or 5 months....
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