Progress, Challenges, and Prospects of Short‐Read Genome Sequencing in Prenatal Diagnosis

Background Whole‐genome sequencing (WGS) has been studied increasingly as a genetic testing technology in clinical applications, and its clinical validity has been preliminarily verified. In recent years, WGS has been employed in prenatal diagnosis. Methods This review synthesizes the current research and existing guidelines on the use of WGS for prenatal diagnosis. The methods, diagnostic scope, diagnostic rate, clinical usefulness, feasibility, limitations, and ethical issues of WGS in prenatal diagnosis are also presented. Results After reviewing the relevant studies, evidence indicated that WGS can improve the diagnostic rate for fetuses with abnormal development. At the same time, WGS also has significant challenges, such as a higher detection rate of variants of uncertain significance. Conclusion WGS has great potential in prenatal diagnosis, but more research is needed to advance its clinical application.