世界卫生组织发布题为《加强新生儿筛查、诊断和先天性缺陷管理的能力建设》的新报告，敦促各国扩大新生儿先天性缺陷筛查的覆盖范围。1根据报告数据，全球每年约800万婴儿出生时患有先天性缺陷，这类疾病占五岁以下儿童死亡的近8%。1其中约90%患有严重先天性缺陷的儿童生活在低收入和中等收入国家。1报告指出，早期检测和治疗可以挽救生命并减少终身残疾，因此低收入和中等收入国家需要优先推进新生儿筛查工作。1
先天性缺陷作为儿童健康威胁正在加剧。1从2000年到2023年，撒哈拉以南非洲五岁以下死亡中由先天性缺陷引起的比例从1%增至4%，南亚地区则从3%增至11%。1为应对这一挑战，多个国家已取得显著成效。1印度国家项目在三年内筛查了超过2800万儿童，识别了约90万名患先天性缺陷的儿童。1菲律宾现已通过全国7000多个医疗设施为29种先天性缺陷进行筛查，斯里兰卡约80%的新生儿接受先天性甲状腺功能减退症筛查。1阿根廷、巴西、埃及和乌干达等国也展示了成功推进新生儿筛查的案例。1
世卫组织总干事谭德塞表示："没有任何儿童应该因为先天性疾病检测不及时而失去健康的未来。"1
The World Health Organization has released a report titled "Strengthening Capacity for Newborn Screening, Diagnosis and Management of Birth Defects," urging countries to scale up newborn screening programs globally.1 Approximately 8 million infants are born with congenital defects each year, and early detection and treatment can save lives and prevent lifelong disabilities.1
The burden of birth defects falls disproportionately on low- and middle-income countries, where roughly 90 percent of children with severe congenital defects live.1 Congenital defects account for nearly 8 percent of deaths in children under five,1 and the problem is growing in certain regions—sub-Saharan Africa saw the proportion of under-five deaths caused by congenital defects rise from 1 percent to 4 percent between 2000 and 2023, while South Asia experienced an increase from 3 percent to 11 percent over the same period.1
Several countries have demonstrated the feasibility of expanded screening programs. India's national initiative screened more than 28 million children in three years and identified approximately 900,000 children with congenital defects.1 The Philippines now conducts screening for 29 congenital conditions through more than 7,000 healthcare facilities nationwide,1 and about 80 percent of newborns in Sri Lanka receive screening for congenital hypothyroidism.1 WHO Director-General Tedros Adhanom Ghebreyesus stated: "No child should lose their healthy future because a birth defect was not detected in time."1
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