He doesn't believe baby has it but I follow up at 22 weeks. Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username, By continuing to browse this site, you agree to its use of cookies as described in our, orcid.org/https://orcid.org/0000-0001-9270-5267, I have read and accept the Wiley Online Library Terms and Conditions of Use. It is important to recognize that a positive cfDNA screen for 45, X does not mean that the fetus has Turner syndrome. Our ultrasound showed two tiny holes in the heart, one was a soft marker for downs due to the location - which us why we opted to do the NIPT test. I'm in same boat as you. This means that they have a 62% rate of false positives. I could have written this. Press J to jump to the feed. I just wanted to share some facts about the screening tests to help others who receive these results and aren't sure how to interpret the tests. Prayers that your ultrasounds keep looking good.No matter what genetics screening can tell you the ultrasound, to me is the best tool. My Nuchal scan was perfect and I’m waiting for the amniocentesis, which I can get in January. It saddens me that so many are suffering with these diagnoses when they're so unreliable. I don't think I could have been any more scared waiting for the results. This suggests that some of the pathophysiology of Turner syndrome occurs early in fetal life and presents novel opportunities for consideration of antenatal treatments. After 2 weeks my amnio results came in normal! A more helpful statistic is the positive predictive value. In some parts of the world, prenatal screening using analysis of circulating cell‐free (cf) DNA in the plasma of pregnant women has become part of routine prenatal care with limited professional guidelines and without significant input from the Turner syndrome community. Many people do not know the difference, including doctors! Additionally, these tests do not analyze full sequences of DNA, but free cell DNA, which is broken. Diana W. Bianchi, Section on Prenatal Genomics and Fetal Therapy, Medical Genetics Branch, National Human Genome Research Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. Additionally, it's important to note that these tests NEVER test fetal DNA - they can't. My husband and I just got our NIPT results back a few days ago and it was 73% positive for Turner Syndrome. The tests have a >99% specificity rating, meaning that out of the babies actually born with Turner Syndrome, they correctly identified Turner's in more than 99% of the cases. My obgyn joked that it can not confirm if I myself am normal though haha - but that ship sailed many years ago for me! In this 2016 study on false negative NIPT results, it was determined that for every 1 in 426 samples of people at high risk for common chromosomal abnormalities, a trisomy 18 (Edwards syndrome… When I mentioned this to the doctor she said “don’t believe all you read on the internet. Was told I would lose her because she had TS show up on the chromosome testing. This means that of the women who receive a positive result for Turner Syndrome, only 38% of the fetuses actually has the syndrome. While my outcome has been good, i wouldnt wish this experience on anyone. It's also maddening that the next course of action is often an invasive CVS or Amnio, which carry risks to the mother and baby. I'm in same boat as you. I am so pleased your baby's got all her chromosomes. However a genetic counselor I met with told me that she sees false positives for this all the time and my 73% was more like 5-15%. Wow, I am glad you switched doctors. You are passing a message to a BabyCenter staff member. Yes, I absolutely agree. Nt scan looked good at 13 weeks, no abnormalities. Unlimited viewing of the article/chapter PDF and any associated supplements and figures. My obgyn made it seem more as a diagnosis than screening like specialists did. I’m sorry you went through this - this also happened to me, we had a positive for turners syndrome and had a CVS which showed she did not have it - not a single cell had less than two X chromosomes. I think in the future i would just go straight for the amnio (but i am convinced this will be our last addition to our family, so hopefully wont need to go through all this again) as the NIPT also costs an additional $700, not to mention added stress with a positive screen result.

.

Force And Laws Of Motion Class 9 Ncert Solutions Pdf, Bullfinch For Sale, Ac Odyssey -50% All Resistances Engraving, Portuguese Sardines For Sale, Barilla Linguine Nutrition, Baseball Image Png, Platform Beds Canada, Linenspa 6 Inch Mattress Review, Verticoil Vs Pocket Coil, Mainland China Kolkata Buffet Price Em Bypass,