Singleton exome sequencing reveals disease-causing variants in fetuses with ultrasound anomalies

Key clinical point: Singleton exome sequencing (sES) could be a valuable prenatal diagnostic tool that offers the opportunity to obtain reliable and rapid prenatal results that reveal novel disease-causing variants in fetuses with ultrasound anomalies.

Major finding: The overall diagnostic yield for detection of pathogenic or likely pathogenic variants was 34.4%, with the diagnostic rate being highest for multiple anomalies (56%), followed by skeletal or renal abnormalities (50%). Furthermore, 20 novel disease-causing variants in different known disease-associated genes were identified.

Study details: Findings are from a retrospective analysis of 90 fetuses with a normal rapid aneuploidy detection but abnormal ultrasound findings, who were further investigated with sES or multigene panel analysis of 6,713 genes.

Disclosures: The study did not receive funds, grants, or other support. The authors declared no competing interests.

Source: Smogavec M et al. Eur J Hum Genet. 2022 Jan 1. doi: 10.1038/s41431-021-01012-7.