Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study | Mone F, et al | Ultrasound in Obstetrics & Gynecology | Jun. 2022
Nonacus Products: Prenatal healthcare
Objectives
To determine the; (i) variable diagnostic yield and turnaround time (TAT) of two consecutive prenatal exome sequencing (ES) pathways; (ii) evolution of the fetal phenotype and; (iii) clinical impact in the presence of causative pathogenic variants and incidental findings.
Methods
This retrospective cohort analysis (of prospectively collected cases) assessed fetuses undergoing trio ES in the presence of structural anomalies with normal chromosome microarray via the West Midlands Regional Genetics Laboratory. This included the periods; (a) 07/2018 to 10/2020 (a post-Prenatal Assessment of Genomes and Exomes (PAGE) pilot study) with prenatal trio ES based on a panel of 1542 development disorder genes and case selection by a multi-disciplinary team and; (b) 10/2020 to 05/2021 with prenatal trio ES based upon the NHS England R21 pathway with definitive inclusion criteria and a panel of 1205 prenatally relevant genes. Deep phenotyping was performed throughout pregnancy and postnatally.
ExomeCG,fetal
