Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

What's already known about this topic? Whole‐exome sequencing is a comprehensive genetic test with a diagnostic yield of 25–30% in postnatal cohorts of undiagnosed patients suspected of having a genetic disorder. Reports on the use of whole‐exome sequencing prenatally are limited to case reports and small series. What does this study add? This report summarizes an oral debate presented at the 19th International Conference on Prenatal Diagnosis and Therapy in Washington, DC, USA on 14 July 2015. The benefits, limitations and challenges of performing fetal exome sequencing to investigate a pregnancy presenting with a dysmorphic or malformed fetus are discussed.