Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

Abstract

Carrier screening for specific genetic disorders is recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG), and societies representing the Ashkenazi Jewish population. Due to cost considerations and technological limitations, traditional carrier screening assays are designed to detect only the most common mutations in a gene. This older approach can yield high detection rates in specific populations (e.g., Ashkenazi Jewish); however, it can be suboptimal for other ethnicities and for patients of mixed or unknown ethnic background.