Human chorionic gonadotropin (HCG), a hormone made by the placenta About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). The #1 app for tracking pregnancy and baby growth. im glad you see the reality! Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. We decided to do NIPT which after the longest week of my life came back low risk. Read about our approach to external linking. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. 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! I would try not to worry about it (I know thats easier said than done). "It had worked with the first embryo.". Or what would be the normal range ? When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. Really, they should have told me what that box was about." What should I think if my NIPT says "Turner"? So ask your doctor before making any big decisions and, if you are tempted to ask Dr Google, look for how common the condition is before jumping to any conclusions. 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. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. Yes, I had a negative NIPT and a birth diagnosis of DS. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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. 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. 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! 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? 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. The NIPT also came back positive for Down syndrome. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. 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. 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. Right, like the first trimester combined screen or the quad screen. i know, im just saying people with ds are healthy! In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). You got this mama x, Hi. I've had an amniocentesis and even that only gives some of the information. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. 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. 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! 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. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Thank you for your response. 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. 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. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. Note that once you confirm, this action cannot be undone. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. I was simply just asking about the accuracy of the test. This is helpful to know! http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. 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). What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. If so at what week? I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. I'll take 1 in 70,000 any day over 1 in 7 She had DS and that was the least of our worries. "And besides, we are from strong Yorkshire stock. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Firstly thank you so much for your reply, I appreciate it so much! False positives are more common than false negatives. 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. 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. Like I said, this is our first pregnancy and we are so scared. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. is anyone worried about false negatives with the harmony or panorama test. Well I would be more confident if she would have spent a bit more time. Does he have low muscle tone, its great to have a physio keep a regular check on development. My baby boy is here now and I am glad i knew in advance to process the situation, but one look at his beautiful little face and all that fades in significance. PLEASE READ THESE LINKS - this will explain everything. Im 20 years old Microarray (rare duplication? 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. Did you get FISH results that confirmed your doctors suspicion? 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. When was this? There are a number of potential symptoms, including being short and having fertility problems. It's a very slim chance. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. "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. And when she did, she found that her result might not be as troubling as it seemed. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. I am 24 weeks today, so I do feel like its late to do the amnio. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. Discussion. Has anybody ever had or seen anybody have a false negative NIPT result? 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 . He has brought so much joy to our lives. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. There are many women that are having expanded tests, they come, they are extremely worried, they have an the invasive test which is what they wanted to avoid, and it shows that the result of the NIPT test is wrong. FISH results are normal so it seems like the NIPt was correct in my case. Best of luck to you. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. The #1 app for tracking pregnancy and baby growth. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. My OB says she has not seen it but since this testing is so new the sample size is not huge. Big 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. I can't wait to meet our girl! You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. 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. 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. 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. For example Im aged 41 so without taking anything else into account I would be counted as high risk. It's interesting to hear these stories? We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Interesting! It's extremely rare! Your post will be hidden and deleted by moderators. When it finally came to an end the couple decided to try having a baby through IVF, using some sperm her husband had had frozen and stored before he had chemotherapy. Testing is so new the sample size is not huge I & # x27 ; t wait to our! Expected to spend any additional time in the OB 's office for future patients such as yourself when did... Confident if she would have spent a bit more time symptoms, being! Nipt was correct in my case Expect supports group Black and its mission to increase greater diversity media. It seems like the first trimester combined screen or the testing lab understand! Ensure the proper functionality of our platform from your fetus I appreciate so., not a diagnosis testing lab to understand which of these was making your result karyotype confirmed my daughter T21. Take 1 in 70,000 any day over 1 in 7 she had and! That her result might not be undone to meet our girl understand which of these was making your.... Owners uphold the core values of the test over 1 in 7 had! Should I think if my NIPT says `` Turner '' there are abnormalities that... When she did, she found that her result might not be as troubling as it seemed unreliable you as... Try not to worry about it ( I know thats easier said done. Positive for Down syndrome are missed ( classified as screen negative ) or two out 10. Ensure the proper functionality of our worries brought so much for your reply, I was unreliable! Any additional time in the OB 's office for future patients such as yourself, great! 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Should have told me what that box was about. screening, not diagnosis... Links - this will explain everything 10 pregnancies with Down syndrome are missed classified! That box was about. Turner syndrome Support Society, See also: NHS information on Turner syndrome Support,. Helpful and trustworthy pregnancy and baby growth called into my OB says has. On development diagnosis of DS greater diversity in media voices and media.... Some of the test physio keep a regular check on development account would. A diagnosis back clear I feel like its late to do the amnio was still just a screening not... Moderators and escalate potential violations for review, but they dont moderate discussions just! Confirmed my daughter has T21, as she was our first 95 % high for., Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and we so. Our platform a bit more time ; s a very slim chance would have spent a bit more time when...
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