11/14/2022 0 Comments Myriad foresight carrier screen![]() “Current medical guidelines for cystic fibrosis recommend carrier screening via targeted genotyping of 23 frequent variants but that approach may miss many couples at risk,” said Goldberg. Of the couples at risk for CF who were identified, 89 percent said they planned or pursued actions to reduce the risk of having a pregnancy affected by CF, which underscores the clinical utility of the Foresight Carrier Screen to provide actionable information to prospective parents. Importantly, these findings demonstrate that using Foresight would increase the detection of at-risk couples by 45 percent relative to current guideline-based testing. The results show that among the 13,080 couples screened, 58 were determined to be couples at risk for a pregnancy affected by CF: 40 were detected by CF23-only screening, 17 additional couples by NGS, and one couple by NGS+CNV. #Myriad foresight carrier screen plus#Sequencing plus large copy-number variant identification (NGS+CNV) also using Foresight. Sequencing all coding bases in the CFTR gene (NGS) using Foresight and 3. Genotyping 23 guideline-recommended genetic variants (CF23) 2. Three carrier screening strategies were evaluated: 1. This study evaluated the performance of sequencing-based cystic fibrosis (CF) screening using the Foresight Carrier Screen compared to genotyping. Presenter: Dale Muzzey, Ph.D., Myriad Women’s Health.ĭate: Friday, April 5, 2019, 10:30 a.m. Title: Sequencing as a First-Line Methodology for Cystic Fibrosis Carrier Screening Follow Myriad on Twitter via and and keep up to date with meeting news and updates by using the hashtag #ACMGMtg19. Please visit Myriad Women’s Health at booth #1218 to learn more about our leading portfolio of women’s health products. James Goldberg, M.D., Board Certified Maternal Fetal Medicine Specialist, Medical Geneticist and Chief Medical Officer, Myriad Women’s Health We believe these data will help inform medical guideline updates, support decision making and lead to better outcomes for couples.” Our studies demonstrate the outstanding clinical performance of our tests in a general population of patients undergoing carrier and prenatal screening. The key findings are that the Foresight ® Carrier Screen identifies 45 percent more couples at risk for having a child with cystic fibrosis than current guideline-based testing, and that the Prequel ™ Prenatal Screen provides reliable results to 99.9 percent of patients spanning the entire spectrum of fetal-fraction levels. Myriad Genetics, Inc., a global leader in personalized medicine, today announced that its Myriad Women’s Health business unit will present results from two important studies at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting that highlight the performance of its prenatal tests. ![]()
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