In January, the Wellcome Trust Sanger Institute, alongside the West Midlands Regional Genetics Service and North East Thames Regional Genetics Service released a paper outlining their work for the Prenatal Assessment of Genomes & Exomes (PAGE) Study.
The ground-breaking study used prenatal exome analysis for fetuses with structural anomalies detected on ultrasound, to evaluate the presence of genetic variants in developmental disorder genes.
Whole exome sequencing was used, and a targeted gene panel of 1628 genes associated with developmental disorders was applied. Variants were filtered according to allele frequency, inheritance pattern, protein alteration, and phenotype.
Variant annotations and clinical findings were discussed by a multidisciplinary team of specialists using Congenica’s SapientiaTM platform, and a variant classification was decided using the ACMG classification guidelines. Pathogenic and Likely Pathogenic variants were reported to the patient’s clinician if believed to be causative of the fetal structural anomaly.
In this study, WES facilitated identification of a diagnostic or potentially clinically relevant variant in 12.5% of cases with fetal structural anomalies enabling more accurate prognoses and risk of recurrence in future pregnancies, although consideration must be taken when applying the method to clinical care, to maximise clinical usefulness.
You can read the full paper here.