出生缺陷的三级预防与治疗

Tertiary prevention and treatment of birth defects

摘要

出生缺陷是胚胎阶段发生的结构、功能或代谢异常,病种繁多,是重要的公共卫生问题。我国已建立孕前一级预防、孕期二级预防、产后三级预防的全链条防控体系。一级预防面向备孕人群,通过遗传筛查、规避有害环境因素、管理母体基础疾病、补充叶酸等关键营养素,从源头降低发病风险。二级预防依托产前超声、血清学筛查、无创基因检测及绒毛、羊水穿刺等产前诊断技术识别胎儿异常,给予合理处置和管理。三级预防依靠新生儿遗传代谢病、听力、先天性心脏病筛查实现早诊早治,并开展个体化治疗与长期康复。不同类型出生缺陷治疗方案差异明显,结构畸形多以手术矫治为主,遗传代谢病侧重饮食或药物长期管理,染色体病以康复支持为主。当前防控仍面临地区发展不均衡、罕见出生缺陷防控能力不足、长期康复与社会支持体系不完善等挑战,需持续完善全链条闭环管理,减轻疾病负担,提升人口健康素质。

Abstract

Birth defects are structural, functional or metabolic abnormalities arising during embryonic development. They encompass a wide spectrum of disorders and are a major public health concern. China has established a full-chain prevention and control system consisting of primary pre-conception prevention, secondary prenatal prevention and tertiary postnatal prevention. Primary prevention targets couples planning pregnancy to reduce risks at the source via genetic screening, avoidance of hazardous environmental exposures, management of pre-existing maternal conditions, and supplementation of key nutrients such as folic acid. Secondary prevention identifies fetal anomalies using prenatal ultrasound, serological screening, non-invasive genetic testing, and invasive prenatal diagnostic procedures including chorionic villus sampling and amniocentesis,and provides appropriate intervention and management. Tertiary prevention enables early diagnosis and treatment through newborn screening for inborn errors of metabolism, hearing impairment and congenital heart disease, followed by individualized therapy and long-term rehabilitation. Treatment strategies vary substantially by phenotype: surgical correction is the mainstay for structural malformations, lifelong dietary or pharmacological management is adopted for inborn errors of metabolism, and supportive rehabilitation care is prioritized for chromosomal disorders. Current challenges include interregional disparities, limited capacity for rare birth defect management, and underdeveloped long-term rehabilitation and social support systems. Continuous improvement of closed-loop full-cycle management is required to reduce disease burden and improve population health.

关键词

出生缺陷 / 三级预防 / 产前诊断 / 新生儿筛查 / 康复

Key words

birth defects / tertiary prevention / prenatal diagnosis / newborn screening / rehabilitation

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基金资助

“十四五”国家重点研发计划“生育健康及妇女儿童健康保障”重点专项(2021YFC2701000);国家自然科学基金项目(82270312)