An article published on the molecular biology and diagnostics news website GenomeWeb has highlighted the clinical exome sequencing strategies used by the Exeter laboratory to diagnose lethal fetal disorders. The article includes an interview with Professor Sian Ellard, head of the Molecular Genetics department at the Royal Devon and Exeter NHS Foundation Trust. It follows publication in November (Stals et al. 2017 Prenatal Diagnosis) of a study evaluating exome sequencing in 50 cases of parents that had one or more pregnancies affected by a prenatal onset or lethal fetal disorder. In these particular cases, there was insufficient DNA to allow testing of the affected fetus.
A diagnostic yield of 52% was achieved across the 50 consecutive cases reviewed in the study, demonstrating that exome sequencing of parents is an effective method for diagnosing lethal or prenatal-onset disorders. Prenatal testing can then be used to guide the management of ongoing pregnancies and/or inform testing (either prenatal or pre-implantation) for subsequent pregnancies.
