Core Insights - Myriad Genetics announced groundbreaking research on prenatal cell-free DNA screening at the Society for Maternal-Fetal Medicine Conference, highlighting the ability to conduct reliable tests as early as eight weeks of gestation [1][2] - The study received the Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics, showcasing the significance of the findings in the field of prenatal genetic screening [1] Study Findings - The Prequel Prenatal Screen with AMPLIFY™ technology allows for accurate results at eight weeks of gestation, with an average fetal fraction (FF) of 12.5% and a no-call rate of less than 0.5% [1][3] - The study involved a multi-site approach where subjects provided samples at different gestational ages, confirming that the Prequel with AMPLIFY can deliver reliable results comparable to typical cfDNA screening at 10 weeks or later [3] Clinical Implications - The ability to assess risks for chromosomal disorders at eight weeks is a significant advancement, enabling earlier diagnostic testing options for patients, such as chorionic villus sampling at 10 weeks instead of the typical 15 weeks for amniocentesis [2] - This advancement empowers clinicians and patients to make informed decisions regarding prenatal care [2] Technology Overview - Myriad's Prequel Prenatal Screen with AMPLIFY technology is the first prenatal cfDNA screen available at eight weeks, increasing fetal fraction by an average of 2.3-fold [5] - The test assesses risks for various chromosomal conditions, including Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome abnormalities [5] Additional Presentations - Myriad Genetics will also present on detecting maternal mosaicism in fetal sex chromosome aneuploidy screening, aiming to improve positive predictive value (PPV) for sex chromosome anomalies [4]
Myriad Genetics Unveils Groundbreaking Eight Weeks' Gestation NIPT Study Results at Society for Maternal-Fetal Medicine Conference