[Application of high-throughput sequencing in the precision prevention and control of genetic birth defects].

Abstract

High-throughput sequencing technology is playing an increasingly important role in the prevention and control of hereditary birth defects. Among these technologies based on next-generation sequencing (NGS), non-invasive prenatal testing (NIPT), low-coverage whole genome sequencing (copy number variation sequencing, CNV-seq), and exome sequencing (ES) have been widely applied in clinical practice. In recent years, the research and clinical application of third generation sequencing (TGS) have yielded numerous results. With its long-read sequencing advantages, TGS has solved many challenges in the three-level prevention of complex and difficult genetic diseases, further improving the technical system for the prevention and control of hereditary birth defects. This article introduces the application of high-throughput sequencing technology in various stages of hereditary birth defect prevention and explores the key technologies and application trends in each field.