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]