Incremental Yield of Whole-Genome Sequencing Over Chromosomal Microarray Analysis and Exome Sequencing for Congenital Anomalies in Prenatal Period and Infancy: Systematic Review and Meta-analysis

(Abstracted from Ultrasound Obstet Gynecol 2024;63:15–23 Congenital anomalies can be diagnosed prenatally through genetic testing, including exome sequencing (ES), quantitative fluorescence polymerase chain reaction (QF-PCR), and chromosomal microarray analysis (CMA), in addition to whole-genome sequencing (WGS). Each method has anomalies it can better detect, with WGS having the greatest diagnostic capability.