Correspondence on “Current Controversy in Prenatal Diagnosis: The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use”

Abstract

We appreciate Vora and colleagues' thoughtful discussion of prenatal screening for single gene disorders via cell free DNA (cfDNA) analysis [1]. However, this article includes an incorrect description of carrier screening with cfDNA analysis for autosomal recessive conditions and therefore misrepresents the sensitivity of the assay to identify carriers and identify affected fetuses as high risk.