Bai Zihao, Han Jingru, An Jia, Wang Hao, Du Xueying, Yang Zhaocong, Mo Xuming
Nanjing Children's Hospital, Clinical Teaching Hospital of Medical School, Nanjing University, Nanjing, 210008, China.
Guangzhou Key Laboratory of Basic and Applied Research of Oral Regenerative Medicine, Guangdong Engineering Research Center of Oral Restoration and Reconstruction, Affiliated Stomatology Hospital of Guangzhou Medical University, Guangzhou, 510182, China.
EClinicalMedicine. 2024 Oct 4;77:102873. doi: 10.1016/j.eclinm.2024.102873. eCollection 2024 Nov.
Congenital birth defects (CBDs) present enormous challenges to global healthcare systems. These conditions severely impact patients' health and underscore issues related to socioeconomic development and healthcare accessibility and efficiency. Previous studies have been geographically limited and lacked comprehensive global analysis. This study provides global, regional, and national disability-adjusted life years (DALYs) data for four major congenital birth defects-congenital heart defects (CHD), neural tube defects (NTDs), digestive congenital anomalies (DCAs), and Down syndrome (DS) from 1990 to 2021, emphasizing health inequalities. The goal is to offer scientific evidence for optimizing resource allocation, focusing on high-burden populations, and reducing disease burden.
This study systematically evaluated the global, regional, and national burden of CBDs and their changes from 1990 to 2021 using the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021. To conduct a more focused analysis, four specific CBDs were selected: CHD, NTDs, DCAs, and DS. DALYs were used as the metric, combined with the sociodemographic index (SDI). Analyses included the slope index of inequality and concentration index to measure health inequalities, frontier analysis to estimate achievable outcomes based on development levels, decomposition analysis to identify drivers of disease burden changes, Joinpoint regression analysis to assess temporal trends, and the Bayesian age-period-cohort (BAPC) model to predict future disease burden trends.
Compared to 1990, the global burden of the CBDs in 2021 showed a downward trend. Males had a higher burden than females, with the highest burden observed in low-SDI regions. When examining CHD, NTDs, DCAs, and DS specifically, trends in burden changes varied across different CBDs at the global, regional, and national levels. Frontier analysis revealed potential for burden improvement in various countries and territories. Decomposition analysis highlighted differences in disease burden drivers across SDI regions, showing the greatest improvement observed in low-SDI regions. Joinpoint regression analysis indicated a downward trend in DALYs burden across SDI regions, and BAPC model predictions suggested that the burden of CBDs will continue to decline in the future.
CBDs pose a major challenge to global public health. Despite an overall decline in disease burden, health inequalities remain prominent, particularly in countries and territories with lower levels of development. Future public health interventions should focus on countries and territories with low levels of development by optimizing healthcare resource allocation, improving basic health infrastructure, enhancing health education, and reducing disease burden inequalities. Global collaboration and data sharing are essential to promote a lifecycle management model for CBDs research and treatment, advancing global health development.
This study was supported by the National Natural Science Foundation of China (No. 82270310) and the Jiangsu Provincial Key Research and Development Program (No. BE2023662).
先天性出生缺陷给全球医疗系统带来了巨大挑战。这些疾病严重影响患者健康，并凸显了与社会经济发展以及医疗可及性和效率相关的问题。以往的研究在地域上存在局限性，且缺乏全面的全球分析。本研究提供了1990年至2021年四种主要先天性出生缺陷——先天性心脏病（CHD）、神经管缺陷（NTDs）、消化器官先天性异常（DCAs）和唐氏综合征（DS）的全球、区域和国家伤残调整生命年（DALYs）数据，强调了健康不平等问题。目的是为优化资源分配、关注高负担人群以及减轻疾病负担提供科学依据。
本研究使用《2021年全球疾病、伤害和风险因素负担研究》（GBD 2021）系统评估了1990年至2021年先天性出生缺陷的全球、区域和国家负担及其变化。为了进行更有针对性的分析，选取了四种特定的先天性出生缺陷：CHD、NTDs、DCAs和DS。以DALYs作为衡量指标，并结合社会人口学指数（SDI）。分析包括不平等斜率指数和集中指数以衡量健康不平等，前沿分析以根据发展水平估计可实现的结果，分解分析以确定疾病负担变化的驱动因素，Joinpoint回归分析以评估时间趋势，以及贝叶斯年龄-时期-队列（BAPC）模型以预测未来疾病负担趋势。
与1990年相比，2021年先天性出生缺陷的全球负担呈下降趋势。男性的负担高于女性，低SDI地区的负担最高。具体考察CHD、NTDs、DCAs和DS时，全球、区域和国家层面不同先天性出生缺陷的负担变化趋势各不相同。前沿分析揭示了不同国家和地区在减轻负担方面的潜力。分解分析突出了SDI不同地区疾病负担驱动因素的差异，显示低SDI地区改善最为显著。Joinpoint回归分析表明SDI各地区DALYs负担呈下降趋势，BAPC模型预测先天性出生缺陷的负担在未来将继续下降。
先天性出生缺陷对全球公共卫生构成重大挑战。尽管疾病负担总体呈下降趋势，但健康不平等现象仍然突出，尤其是在发展水平较低的国家和地区。未来的公共卫生干预措施应通过优化医疗资源分配、改善基本卫生基础设施、加强健康教育以及减少疾病负担不平等，重点关注发展水平较低的国家和地区。全球合作和数据共享对于推动先天性出生缺陷研究和治疗的生命周期管理模式、促进全球健康发展至关重要。
本研究得到了中国国家自然科学基金（项目编号：82270310）和江苏省重点研发计划（项目编号：BE2023662）的支持。
