Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases

The findings of this study suggest that application of ES as a routine test in asymptomatic fetuses undergoing prenatal diagnosis could enhance the detection of Mendelian disorders, thereby providing information to parents about the health of their fetus, providing them with reproductive options, as well as providing the potential for medical interventions prenatally or postnatally. However, challenges may arise in variant interpretation in the absence of phenotype, along with the risk of uncertain outcomes for positive cases.