Current recommendations: Screening for Mendelian disorders

Over the last 50 years, screening for Mendelian disorders has progressed from screening of neonates for phenylketonuria (PKU) to screening of healthy individuals in the preconception or prenatal setting for more than 100 disorders. Traditional carrier screening has been based on ethnicity, and, as ethnic distinctions become less defined, the ability to screen effectively has become increasingly more limited. At the same time, advances in molecular technology have produced large screening panels without reliance on ethnicity. This article outlines the historical and traditional use of single gene carrier screening.