Director, Maternal-Fetal Medicine and Clinical Geneticist Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC Columbia, South Carolina, United States
Description The driving forces behind the recent recommendations to screen all pregnant women for a defined list of recessive and X- linked conditions and a review of the methodology used to establish this list will be discussed. With a list of conditions identified, can CFTR serve as a “model gene” when recommending minimum variants for reporting? What can we expect with evolving databases? Are these approaches applicable beyond the US? Why not just screen for everything possible? Learning Objectives Identify the application of the Pareto curve in determining the list of conditions currently recommended for screening. Be familiar with the clinical criteria used to include/exclude conditions for inclusion. Know the rationale used to include conditions that fell outside of the cumulative distribution model. Identify the prevalence used to include X- linked conditions.
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