NIPT performed in our department using the SOLiD Wildfire [36] was also consistent with trisomy 18 (-score 25.4). Everything can be so stressful as it is! Anyone can have a baby with Down’s syndrome, although the chance increases for older mothers, most babies with Down’s syndrome are born to younger women. I am 38yrs and my husband is 46yrs. Edwards’ and Patau’s syndromes are life limiting conditions and will cause a wide variety of developmental and health difficulties, some of which can be very serious. To comment on this thread you need to create a Mumsnet account. During my initial consult with my OB, at 12 weeks, he recommended that due to my age the best genetic testing would be NIPT vs NT scan/PAPPA-A blood work/CVS. These unexpected, discrepant results caused disbelief and distress to the families, requiring multiple counseling sessions. Can we now finally get rid of 'Do they know it's Christmas'? My genetic counselor even told me yesterday they couldn’t find a nasal bone. The placenta was sampled at 9 representative approximately equidistant positions, representing 9 equally large sections. In Case 1, the proportion of nontrisomic cells in the cytotrophoblast was 0% or close to 0%. Our OB recommended this top fertility doctor in our area. I wish I would have known how inaccurate it can be before I took it. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. which is then sent to the NHS laboratory at St George’s Hospital for assessment. My kids are 8 (girl) and 6 (boy) and I will lean on the family counselor to help us answer any other questions and help us work through any of our worries. Im so sorry for what you are going through, my original obgyn was crap when they told me my test results, they didn’t give much info and left me in a state panic, that same day I switched obs and ever since then I feel so much more at ease, she is heaven sent compared to the one I was originally going to! The tests are portrayed as being so accurate. Congratulations again, I hope you are getting all the information and support you may need x, Hello,would you might telling what measurement was baby NT on 12 weeks scan?I have no result from Harmony on 18 week blood re drew.I know it is a red flag,my scan looks ok,so I am freaking out.I am thinking about amino if they offer...I understand you didnt have amino?all best wishes for you. I emailed Natera about my results. © 2020 Everyday Health, Inc. Is NIPT an accurate test for Down’s syndrome? Karyotyping of metaphases of 30 clones of cultured amniocytes showed a 47,XX,+18 karyotype in all clones. I am sure I’ll get more information then obviously but I was hoping to find some answers to help ease my mind throughout the weekend. I’m happy for you and your husband. None of this is easy and I realize this is part of life. something I realize after all of this is that the genetic counselor my ob referred me to (well she referred me to a perinatologist who has a genetic counselor) was simply just someone to provide information. For each biopsy, mesenchymal and cytotrophoblast cells were separated as published earlier [37, 38] and 100 interphase nuclei of each cell type were investigated by fluorescence in situ hybridization (FISH). My husband and I agreed for an amnio. been funded jointly by the Foundation, Wellcome and Therefore, few data are available on the contribution of the diverse causes of false negative results. I’m 44 and am blessed to have 2 healthy children, but may not be as lucky this time. Mine NIPT came back high risk for T21. Amniocentesis was performed at 20 5/7 weeks. Current NHS policy is to offer all women a prenatal screening test (the ‘combined test’) for Down’s, Edwards’ and Patau’s syndromes between 10 and 14 weeks of pregnancy as part of the NHS fetal anomaly screening programme. The St George’s Antenatal Fetal Evaluation (SAFE) test is a NIPT test is a screening test for Down’s, Edwards’ and Patau’s syndromes only, in line with UK National Screening Committee (UKNSC) recommendations. You can read about how here. NIPT has been piloted as a second stage screening test for pregnant women in a number of NHS hospitals. Something else I would tell you is to have faith that your baby will be okay, this is really just a screening and not a diagnostics test so there Is a chance and in your case a higher chance that it’s a false positive due to low fetal fraction! I agree your ob is not handling this right. Try creating an account and see if it shows up there. Studies have found that NIPT can give a more accurate prediction of the chance that a fetus has Down’s, Edwards’ or Patau’s syndromes than the combined test alone. part of our future work. Around 70% of pregnancies affected by Edwards’ and Patau’s syndrome will end in miscarriage or stillbirth. This is time sensitive and I only have like 10 days to be able to perform cvs or wait longer for amniocentesis. I am grateful everyday she is with us and she truly is my heart. In most of these studies, the fetal DNA fraction was not provided for the false negative cases, and follow-up by cytogenetic or molecular genetic investigation of the placenta and the newborn child was not included in the study design. He explained to us that the NIPT is not 99% accurate. Trying to have faith but baby also has a high NT. So, how should the problem of unexpected false negative NIPT results be handled in clinical practice? Of course thats assuming we aren’t carriers which I believe they can tell us with the full cvs results. Finally, in cases of a mosaic placenta, the presence of euploid cells reduces the fetal DNA fraction contributed by the aneuploid cells. The first time I had a 'no call' due to low fetal fraction (although it was not that low). Im so sorry you are going through this stress and I hope all is resolved soon. Also, you mention you took the NIPT test twice. Neighbour told my DS that Father Christmas isn't real, Woman just called to say she's sleeping with my partner, Your questions about the Green Homes Grant have been answered by the experts from the BEIS and EST, Share your stories about your children’s favourite toys with Munchkin Nursery Steriliser - £100 voucher to be won, How do you style your children’s hair? It strikes me from my experience of both infertility and pregnancy that once something gets commercialised, like the NIPT has, the ethics around it get murkier. It is an uncommon but recognised phenomenon and is known to result in false negative non‐invasive prenatal testing (NIPT). Approximately 1 in 10 women who get a high chance combined test result will be carrying a fetus with Down’s syndrome; 9 in 10 women will not.