[Prevention and control of birth defects and rare diseases in the era of genomic medicine].

Birth defects and rare diseases have become major public health problems, and early prevention and control are the most effective interventions. In recent years, with the rapid development of genomic techniques such as high-throughput sequencing, the level of screening and diagnosis of genetic birth defects and rare diseases has been greatly improved. This article reviews the application of genomic technologies in the pre-pregnancy, preimplantation, prenatal and neonatal stages, as well as the trend of clinical transformation, highlighting the broad prospects of constructing an early and precise prevention and control system in the era of genomic medicine.出生缺陷与罕见病已成为重大公共卫生问题，早期防控和阻断是目前最有效的干预措施。近年来随着高通量测序等基因组检测技术的飞速发展，遗传性出生缺陷与罕见病的筛查和诊断水平得到了极大提高。本文从基因组学技术在孕前/胚胎植入前、产前、新生儿期各阶段的应用以及临床转化趋势等方面展开阐述，突显在基因组医学时代下构建早期精准预防控制体系的广阔前景。.