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.