
To determine (1) the diagnostic yield and turnaround time (TAT) of two consecutive prenatal exome sequencing (ES) pathways, (2) the evolution of the fetal phenotype and (3) the clinical impact of detecting causative pathogenic variants and incidental findings. Prenatal ES using the NHS England R21 pathway showed great promise when applied to this cohort, allowing a genetic diagnosis in over half of preselected cases with a fetal structural anomaly on ultrasound. Monitoring and real‐time updating of fetal phenotype and reclassifying variants based on postnatal findings are vital to increasing the clinical impact of this emerging genomic technology.
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