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

QIU Liru; LUO Xiaoping

doi:10.11852/zgetbjzz2026-1055

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Chinese Journal of Child Health Care ›› 2026, Vol. 34 ›› Issue (11) : 1173-1177. DOI: 10.11852/zgetbjzz2026-1055

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

QIU Liru^1,2,3, LUO Xiaoping^1,2,3

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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.

Key words

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

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QIU Liru, LUO Xiaoping. Three-tier prevention and control of birth defects in China:From population-based prevention to precision diagnosis and treatment[J]. Chinese Journal of Child Health Care. 2026, 34(11): 1173-1177 https://doi.org/10.11852/zgetbjzz2026-1055

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