The Spectrum of Preconception Carrier Screening: Review of Targeted Gene Screening to Comprehensive Approaches

Abstract

It is estimated that there are more than 1800 inherited rare diseases, and their prevalence differs based on geographic locations, influenced by genetic diversity, environmental factors, societal conditions. Preconception Carrier Screening has a crucial role to play in the prevention of these rare diseases in future generations. Reproductive decision-making is the established measure of the clinical utility of population-based screening that guides couples to make informed reproductive decisions.