Centre for Maternal, Adolescent, Reproductive, and Child Health, London School of Hygiene and Tropical Medicine, London, UK.
Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.
Ann N Y Acad Sci. 2018 Feb;1414(1):31-46. doi: 10.1111/nyas.13548. Epub 2018 Jan 24.
Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTDs (live births, stillbirths, and elective terminations of pregnancy) and subsequent under-5 mortality. Data were identified through web-based reviews of birth defect registry databases and systematic literature reviews. Meta-analyses were undertaken where appropriate. For 2015, our model estimated 260,100 (uncertainty interval (UI): 213,800-322,000) NTD-affected birth outcomes worldwide (prevalence 18.6 (15.3-23.0)/10,000 live births). Approximately 50% of cases were elective terminations of pregnancy for fetal anomalies (UI: 59,300 (47,900-74,500)) or stillbirths (57,800 (UI: 35,000-88,600)). Of NTD-affected live births, 117,900 (∼75%) (UI: 105,500-186,600) resulted in under-5 deaths. Our systematic review showed a paucity of high-quality data in the regions of the world with the highest burden. Despite knowledge about prevention, NTDs remain highly prevalent worldwide. Lack of surveillance and incomplete ascertainment of affected pregnancies make NTDs invisible to policy makers. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation.
神经管缺陷（NTDs）与大量的死亡率、发病率、残疾以及心理和经济成本有关。许多 NTDs 可以通过叶酸预防，为受影响的人群提供适当的服务可以提高生存率和生活质量。我们使用隔室模型来估计全球和区域 NTDs（活产、死产和选择性终止妊娠）的出生流行率以及随后的 5 岁以下儿童死亡率。数据通过基于网络的出生缺陷登记数据库和系统文献综述来确定。在适当的情况下进行了荟萃分析。对于 2015 年，我们的模型估计全球有 260,100 例 NTD 受影响的出生结局（不确定区间（UI）：213,800-322,000）（患病率为 18.6（15.3-23.0）/10,000 活产）。大约 50%的病例是由于胎儿异常（UI：59,300（47,900-74,500））或死产（57,800（UI：35,000-88,600））而进行的选择性终止妊娠。在 NTD 受影响的活产中，有 117,900 例（约 75%）（UI：105,500-186,600）导致 5 岁以下儿童死亡。我们的系统综述表明，在全球负担最重的地区，高质量数据非常匮乏。尽管已经了解了预防措施，但 NTDs 在全球仍然非常普遍。缺乏对受影响妊娠的监测和不完全确定使 NTDs 对政策制定者来说是看不见的。需要加强对所有不良结局的监测，以提高总 NTD 流行率估计的稳健性，评估叶酸强化预防的有效性，并通过护理和康复改善结局。
