Incremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum

The authors aimed to determine the additional diagnostic value of genome sequencing (GS) following exome sequencing (ES) in pregnancies with unexplained nonimmune hydrops fetalis spectrum (NIHFS) that had previously yielded non-diagnostic results. The study found that GS identified new pathogenic variants in 2.5% of cases, highlighting its potential to improve diagnosis, particularly for copy number variants, although most additional findings were attributed to advancements in analytical tools rather than the technology of GS itself.