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. 2025 Dec;57(1):2519686.
doi: 10.1080/07853890.2025.2519686. Epub 2025 Jun 17.

Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021

Enhui Yang  1 , Feng Chen  1   2   3 , Yuansi Zhang  4 , Hao Lin  5 , Yang Yang  6 , Xiufeng Huang  7 , Wenjie Zheng  8 , Yu Zhang  1 , Maoping Chu  2   3 , Xing Rong  2   3
Affiliations

Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021

Enhui Yang et al. Ann Med. 2025 Dec.

Abstract

Background: Congenital birth defects (CBDs) significantly affect child mortality and disability worldwide, yet regional understandings of their burden and contributing factors remain poorly defined. This study examines global trends in prevalence, disability-adjusted life years (DALYs), and mortality related to CBDs and their 11 subtypes from 1990 to 2021.

Methods: Employing data from the Global Burden of Disease Study 2021, this cross-sectional analysis covers CBD prevalence, mortality, and DALYs among children aged 0-14 years. It also investigates relationships between these trends and the Socio-Demographic Index (SDI), employing advanced statistics like Joinpoint regression and heatmap analyses to elucidate geographic variations.

Results: From 1990 to 2021, global trends in CBD prevalence, mortality, and DALYs generally decreased. The neonatal period (<28 days) presented the highest risk, with notable prevalence, mortality, and DALY rates. Among the 11 subtypes, congenital musculoskeletal and limb anomalies were most prevalent, while Turner syndrome was least common. Congenital heart anomalies recorded the highest mortality and DALYs. There was a negative correlation between CBD burden and SDI.

Conclusion: The study underscores the global impact of CBDs on child health, pointing to significant regional disparities linked to socioeconomic factors. The findings advocate for enhanced prevention and management strategies specifically designed for regions with lower SDIs.

Keywords: Congenital abnormalities; disability-adjusted life years; epidemiology; global burden of disease; socioeconomic factors.

Plain language summary

The prevalence, mortality, and DALYs attributable to congenital birth defects (CBDs) significantly decreased globally from 1990 to 2021, though notable regional disparities persist.A negative correlation was observed between the burden of CBDs and the Socio-Demographic Index (SDI), highlighting the role of socioeconomic development in reducing disease burden.The neonatal period (<28 days) remains the critical window for addressing CBD burden, emphasizing the need for enhanced early screening and intervention programs globally.

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Conflict of interest statement

No potential conflict of interest was reported by the author(s).

Figures

Figure 1.
Figure 1.
Global distribution and trends in congenital birth defects Prevalence, Disability-Adjusted Life Years (DALYs) and death from 1990 to 2021.
Figure 2.
Figure 2.
Average annual percentage change (AAPC) in the Prevalence, Disability-Adjusted Life Years (DALYs), and death rates of congenital birth defects from 1990 to 2021 at the global level. (A) represents AAPC in Prevalence rate, (B) represents AAPC in DALYs rate, (C) represents AAPC in Death rate.
Figure 3.
Figure 3.
Heatmap of congenital birth defects subtypes by Prevalence, DALYs, and death across 21 regions in 2021. (A) represents Prevalence, (B) represents DALYs, (C) represents death.
Figure 4.
Figure 4.
Changes in the top 5 countries with the highest burden of congenital birth defects and subtypes in 1990 and 2021 across 204 countries. (A) represents Prevalence, (B) represents DALYs, (C) represents death.
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