07Jun 2022
Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

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.

  • #gynaecology - ivf

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