Related Experiment Video
Updated: Jun 14, 2025
Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis
Xiaolong Xie1, Jiao Pei2, Li Zhang3
1Department of Pediatric Surgery, West China Hospital, Sichuan University, No.37, Guoxue Alley, Chengdu, Sichuan Province, China.
Insights
This systematic review details the global prevalence of eight major congenital anomalies. Anorectal malformation is most common, while congenital diaphragmatic hernia rates have decreased significantly.
Area of Science:
- Medical Science
- Public Health
- Epidemiology
Background:
- Major congenital anomalies represent a significant global health concern.
- A comprehensive systematic review on the worldwide prevalence of these conditions is lacking.
- This study focuses on eight specific major congenital anomalies.
Purpose of the Study:
- To systematically review and meta-analyze the global birth prevalence of eight major congenital anomalies.
- To provide updated global and regional estimates for these conditions.
- To identify variations in prevalence across different geographic regions, income levels, and time periods.
Main Methods:
- Systematic review and meta-analysis of population-based studies.
- Inclusion criteria: studies reporting birth prevalence of specified anomalies from 1969 to 2024.
- Data synthesis to estimate global prevalence and subgroup variations.
Main Results:
- Included 123 studies with 256,507 cases and 769,455,220 births.
- Overall prevalence ranged from 0.86 to 3.11 cases per 10,000 births.
- Anorectal malformation had the highest prevalence (3.11/10,000); congenital diaphragmatic hernia prevalence decreased significantly over time; omphalocele was more prevalent in Africa and low-income countries.
Conclusions:
- This review provides a comprehensive summary of the birth prevalence of eight major congenital anomalies globally.
- Significant variations in the burden of these anomalies exist worldwide.
- Findings aid in understanding the epidemiology and etiology, informing public health strategies.
Background:
There is a lack of systematic review on the global prevalence of major congenital anomalies. We performed a systematic review and meta-analysis of population-based studies on global birth prevalence of eight major congenital anomalies (esophageal atresia, congenital diaphragmatic hernia, duodenal atresia, intestinal atresia, gastroschisis, omphalocele, Hirschsprung's disease and anorectal malformation).
Methods:
Population-based studies reporting the birth prevalence of these anomalies were included from 1969 to 2024. Data from eligible studies were pooled in meta-analysis to get global estimates of birth prevalence and prevalence in subgroups of geographic regions, countries with varying income levels and time periods.
Results:
One hundred and twenty-three studies including a total of 256,507 cases of congenital anomalies and 769,455,220 births were included in this study. Overall birth prevalence of theses eight anomalies ranged from 0.86 to 3.11 cases per 10,000 births. Anorectal malformation had the highest birth prevalence among these anomalies with 3.11 cases (95% confidence intervals (CI): 2.77-3.50) per 10,000 births. Birth prevalence of congenital diaphragmatic hernia had a great decrease from 4.19 per 10,000 births in the 1960s to 1.30 per 10,000 births in the 2020s. Omphalocele had high prevalence in Africa and low-income countries.
Conclusion:
This systematic review summarizes birth prevalence of eight major congenital anomalies. The burdens of these anomalies had variations in the world. Information of this study could help with better understanding of epidemiology and etiology of these anomalies.
Related Concept Videos
01:07Teratogenicity
01:30Neurulation