Fionnuala Mone

Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY ( ODYSSEY ): a cohort study

ABSTRACT Objective To determine the retrospective yield of prenatal exome sequencing (PES) by establishing the proportion of children with a postnatal monogenic diagnosis that could have been diagnosed prenatally if PES had been available. Methods The study cohort comprised a sam...