中国出生缺陷三级防治:从群体预防到精准诊疗实践

Three-tier prevention and control of birth defects in China:From population-based prevention to precision diagnosis and treatment

摘要

出生缺陷是影响儿童生存、发育和家庭生活质量的重要公共卫生问题。经过数十年持续推进,我国已形成以政府主导、妇幼保健体系支撑、临床专科协同、基层服务落实和科学研究驱动为特征的出生缺陷三级防治体系。围孕期叶酸补充、国家免费孕前优生健康检查和南方地中海贫血综合防控体现了人群干预的规模优势;无创产前检测、染色体微阵列分析和产前外显子组测序推动二级预防由风险识别走向病因诊断;新生儿遗传代谢病、听力障碍和先天性心脏病筛查以及遗传代谢病精准治疗和遗传性耳聋基因治疗,促进三级预防由早期发现进一步延伸至改善长期结局。中国经验核心是将人群预防、精准诊断、及时治疗、长期随访及再生育风险管理串联为连续性管理路径。下一阶段出生缺陷防控应以健康结局为导向,强化筛查后管理、区域质量控制、遗传咨询和全生命周期照护,推动出生缺陷防治由“扩大覆盖”转向“提升有效获益”。

Abstract

Birth defects remain a critical public health challenge that impacts child survival, neurodevelopment, and the overall quality of life of affected families. Through decades of sustained efforts, China has established a comprehensive three-tier prevention and control system for birth defects. This framework is characterized by government leadership, support from the maternal and child healthcare network, multidisciplinary clinical collaboration, primary healthcare implementation and technology-driven innovation. Large-scale periconceptional folic acid supplementation, free national preconception health examinations and comprehensive thalassemia control programs in southern China demonstrate the scalability of primary prevention. Non-invasive prenatal testing, chromosomal microarray analysis and prenatal exome sequencing have advanced secondary prevention from risk identification toward etiological diagnosis. Newborn screening for inherited metabolic disorders, hearing loss and congenital heart disease, together with precision treatment and emerging gene therapy of hereditary deafness, has extended tertiary prevention from early detection to outcome improvement. The essential value of the Chinese experience lies in integrating population prevention, precision diagnosis, timely intervention, long-term follow-up, and reproductive risk management into a seamless continuum of care. Future priorities should focus on health outcome, shifting from service coverage alone to measurable health benefits through enhanced post-screening management, regional quality assurance, genetic counseling and life-course care.

关键词

出生缺陷 / 三级预防 / 中国实践 / 孕前保健 / 产前诊断 / 新生儿筛查 / 精准诊疗

Key words

birth defects / three-tier prevention / Chinese practice / preconception care / prenatal diagnosis / newborn screening / precision diagnosis and treatment

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基金资助

国家重点研发计划项目(2023YFC2706300);湖北省卫生健康科技创新转化重大专项项目任务书(WJ2026ZH034)