The global, regional, and national patterns of change in the burden of congenital birth defects, 1990-2021: an analysis of the global burden of disease study 2021 and forecast to 2040

Abstract

Background: 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.

Methods: 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.

Findings: 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.

Interpretation: 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.

Funding: 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).

Keywords: Congenital birth defects; Disability-adjusted life-years; Global burden of disease; Health inequality; Sociodemographic index.

Fig. 1

All-age number of CBDs DALYs cases (A) and age-standardized rates (B) in the world, various SDI regions, and 21 GBD regions in 1990 and 2021. CBDs, congenital birth defects; DALYs, disability-adjusted life-years; SDI, sociodemographic index.

Fig. 2

Ranking of age-standardized disability-adjusted life years rates for all congenital birth defects by location, 2021 (A) and 1990 (B). The colors in the figure represent rankings from high (red) to low (blue), with the numbers representing the specific rankings of 11 types of CBDs globally, in various SDI regions, and 21 GBD regions. CBDs, congenital birth defects; SDI, sociodemographic index.

Fig. 3

Health inequality regression curves and concentration curves for the DALYs of CHD (A and B), NTDs (C and D), DCAs (E and F), and DS (G and H) worldwide, 1990 and 2021. Panels A, C, E, and G illustrate the slope index of inequality, depicting the relationship between SDI and age-standardized DALYs rates for each condition, with points representing individual countries and territories sized by population. Panels B, D, F, and H present the concentration index, which quantifies relative inequalities by integrating the area under the Lorenz curve, aligning DALYs distribution with population distribution by SDI. Blue represents data from 1990, and red represents data from 2021. DALYs, disability-adjusted life-years; CHD, congenital heart defects; NTDs, neural tube defects; DCAs, digestive congenital anomalies; DS, Down syndrome; SDI, sociodemographic index.

Fig. 4

Frontier analysis exploring the relationship between SDI and ASDR for CHD (A and B), NTDs (C and D), DCAs (E and F), and DS (G and H) in 204 countries and territories. In Figures A, C, E, and G, the color change from light green (1990) to dark green (2021) represents the change in years. In Figures B, D, F, and H, each point represents a specific country or territory in 2021, the frontier line is shown in black, and the top 15 countries and territories with the largest differences from the frontier are marked in brown. Blue represents low-SDI with the smallest differences from the frontier, red represents high-SDI with the largest differences from the frontier. The direction of ASDR change from 1990 to 2021 is indicated by the color of the dots, with orange dots representing decreases and green dots representing increases. CHD, congenital heart defects; NTDs, neural tube defects; DCAs, digestive congenital anomalies; DS, Down syndrome; SDI, sociodemographic index; ASDR, age-standardized disability-adjusted life years rate.

Fig. 5

Population-level determinant changes in aging, population growth, and epidemiological changes for CHD (A), NTDs (B), DCAs (C), and DS (D) DALYs globally and in various SDI regions from 1990 to 2021. Black dots represent the total change contributed by all three components. A positive value for each component indicates a corresponding positive contribution in DALYs, and a negative value indicates a corresponding negative contribution in DALYs. CHD, congenital heart defects; NTDs, neural tube defects; DCAs, digestive congenital anomalies; DS, Down syndrome; SDI, sociodemographic index; DALYs, disability-adjusted life-years.

Fig. 6

Temporal trend changes in ASDR for CHD (A), NTDs (B), DCAs (C), and DS (D) globally and in various SDI regions from 1990 to 2021 based on the Joinpoint regression model. ∗p < 0.05; CHD, congenital heart defects; NTDs, neural tube defects; DCAs, digestive congenital anomalies; DS, Down syndrome; SDI, sociodemographic index; ASDR, age-standardized disability-adjusted life years rate.

Fig. 7

Temporal trend in the number of DALYs cases and ASDR for CHD, NTDs, DCAs, and DS from 1990 to 2040 for both males and females. Solid lines represent observed ASDR, and dashed lines represent ASDR predicted by the BAPC model. ASDR, age-standardized disability-adjusted life years rate; CHD, congenital heart defects; NTDs, neural tube defects; DCAs, digestive congenital anomalies; DS, Down syndrome; BAPC, Bayesian age-period-cohort.