"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. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. These stories make me wonder. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. blood test is more accurate. This limit does not apply to high risk pregnancies. 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 am disgusted at the marketing of these tests when you need to have a CVS or amnio anyway, what is the point in them? 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. Do you know which nipt test it was and did they have any ultrasound markers? our test came back negative across the board. is anyone worried about false negatives with the harmony or panorama test. Like I said, this is our first pregnancy and we are so scared. 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. Excellent NT Scan, Positive Blood Results. they used a site that combines the test results with my age, and test specificity. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). A negative NIPT equates to roughly a 1 in 70,000 chance. Excellent NT Scan, Positive Blood Results. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. HOME; ABOUT; SERVICES; WORK GALLERY; CONTACT; Get Quote; has anyone had a false negative nipt test First time pregnancy here.Im 32 years old living in Canada. I have my level 2 ultrasound tomorrow and I'm hoping for a clear scan but even then hope that it will be enough to feel that we should be confident in the Harmony results and disregard the quad screen results. Wishing you good results. Estriol, a hormone made by the placenta and the baby's liver "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. Were happy hes doing well too! It also talked about the test's reliability. The NIPT test is highly accurate at detecting DS but no test is 100%. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. There's actually a board on here for those specific NIPT tests. Waiting on our CVS results we did Friday. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. It can take up to 2 weeks to get the result of your NIPT. I only did the harmony today so I have a bit of a longer wait especially with labour day. 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/. I have wondered the same thing! Hope that helps a little?? The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. The answer was, they didn't do this. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. thats brilliant, some mosaic kids have very little issues. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. 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.). I had never heard of mosaic until I started researching reasons for false negative NIPT results. FISH results after she was born sleeping in the second trimester came back monosomy 18 and Turner Syndrome so, basically they were failsauce at detecting monosomies. Really, they should have told me what that box was about." Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. What does OHIP cover? its an extra chromosome not a death sentence. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). 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. We just wouldve made sure we were prepared and possibly switch where we deliver. 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. 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. I didnt know to ask about that and figured I would be retested if it was low. 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. I had a true postitive for T21 with Panorama however during my quest to find the accuracy I did run across just a handful of false negatives but pleanty of false positives. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. 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. Since the fetal DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. She had DS and that was the least of our worries. 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. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. So, on Tuesday we're going to have the full-anatomy unltrasound and then we'll have to decide whether we want to move forward with amnio or not. The #1 app for tracking pregnancy and baby growth. had the result before 30 weeks, so have had time to process, which is good I think. 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. A negative NIPT equates to roughly a 1 in 70,000 chance. yes same here. its great to hear he is doing so well. 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. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. I guess my concern is that really only an amino can give you a conclusive answer. 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? 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. It was Harmony, no issue with fetal fraction/BMI etc. Where can I find episodes of Tom and Jerry. Has anybody ever had or seen anybody have a false negative NIPT result? 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. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. im glad you see the reality! Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. 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. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. I also agree about people and doctors and how they view DS. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. I never even knew there were different types of Down syndrome. Best of luck with your decision and your pregnancy, it is not easy but you need to do what feels right to you. 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. nipt was negative. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. did they advise future genetic counseling to determine if yourself or your partner are translocation carriers? It's Just so hard to overcome when it happens to you. The Society of Obstetricians and Gynaecologists of Canada recommends that all women have two ultrasounds: one dating ultrasound at 11-14 weeks and one anatomic ultrasound between 18-20 weeks. Those first and second trimester screenings are evil in my opinion. I was told the accuracy of the test is 99.9% or something like that. I am a bot, and this action was performed automatically. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. 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. I started saving them if you are interested I can send them to you. Claire was in the shower at the time, and hurried out to answer the call. 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 did a lot of research! One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King's College Hospital, says that women who have received a disturbing NIPT result in a private clinic often fall back on the NHS for help. Yep 2020, blood sample collected approx 13 weeks ago. Thank you for your response. She shows no symptoms of Turner Syndrome. 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