Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases

Abstract

Carrier screening for specific genetic disorders is recommended by the American College of Medical Genetics, the American Congress of Obstetricians and Gynecologists and societies representing the Ashkenazi Jewish population. Due to cost considerations and restrictive technologies, traditional carrier screening assays are designed to look for only the most common mutations within a gene. While this can yield high detection rates in specific populations (such as the Ashkenazi Jewish) they are suboptimal for other ethnicities or for patients of mixed ethnic background.