Statewide Usage of Prenatal Whole Exome Sequencing

Prenatal Whole Exome Sequencing (WES) is a relatively new Genomic technology that provides more detailed prenatal genetic analysis in fetuses at increased risk of chromosomal or genetic syndromes. It is often used to analyse amniocentesis or chorionic villous samples in cases of fetal structural anomalies, significant fetal growth restriction, and other concerns when the conventional microarray is normal. It allows for the detection of many more conditions than the conventional microarray, including many single gene disorders not identified by microarray. The use of prenatal WES is increasing. The additional diagnostic yield of WES over and above microarray is still uncertain, and seems to vary for malformations of different organ systems. In a partnership with Monash Genetics and the Victorian Clinical Genetics Service (VCGS), we will review the statewide usage and outcomes of the utilisation of WES.