Ó£»¨ÊÓƵ

Skip to main content
  • Research
  • Published:

Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis

Abstract

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.

Peer Review reports

Introduction

According to The Global Burden of Disease 2015 Study (GBD 2015), congenital anomalies became the fifth leading cause of mortality in children under five in 2015 compared with the seventh cause in 1990 [1]. Congenital anomalies defined by World Health Organization (WHO) as structural or functional anomalies that occur during intrauterine life affected 3–6% of births globally [2]. Prevalence of congenital anomalies are greatly influenced by genetic, socioeconomic and environmental factors. WHO estimated that the majority of severe congenital disorders occur in low-income and middle-income countries [3]. To have worldwide data of prevalence and distribution on congenital anomalies could help us better understand their epidemiology and etiology [4].

Congenital anomalies of gastrointestinal tract and abdominal wall are common birth defects and they are the fourth most common structural birth defects following cardiac, neurological and urogenital congenital anomalies [5]. Advancement of neonatal care and surgical intervention have led to improved outcomes of these patients. But there is still significant discrepancy in outcomes of children with these congenital anomalies from countries with different income levels [2, 6]. Information on the prevalence of these birth defects can help with resource allocation and social support. Temporal and geographical variations of birth prevalence of these anomalies also need to be investigated. To the best of our knowledge, there are currently no systematic reviews or meta-analyses on the global prevalence of these anomalies.

The aim of this study was to perform a systematic review and meta-analysis of population-based studies on global birth prevalence of eight major congenital anomalies including esophageal atresia (EA), congenital diaphragmatic hernia (CDH), duodenal atresia (DA), intestinal atresia (IA), gastroschisis, omphalocele, Hirschsprung’s disease (HD) and anorectal malformation (ARM).

Methods

The systematic review and meta-analysis was performed and guided by the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines [7]. This study was registered with the PROSPERO database (CRD42024576162).

Information source and search strategy

Databases including PubMed, Web of Science, Embase, Ovid and Cochrane Library were searched until September 1, 2024. The key search terms were: esophageal atresia, congenital diaphragmatic hernia, duodenal atresia, intestinal atresia, Hirschsprung’s disease, anorectal malformation, omphalocele, gastroschisis, prevalence and epidemiology. The language was restricted to English and publication period had no restrictions.

Eligibility criteria

Population-based studies reporting the birth prevalence of one or several of the eight congenital anomalies were included. Both case-control and cohort research studies were included. Each study was representative of a defined geographic area and should clearly report the study time. Prevalence of birth defect, number of cases and study population should be reported in the research. We excluded studies reporting non-population data (e.g. hospital-based data) or prevalence that was not clearly specific to a defined region or time period. We also excluded case series or reports, abstracts, reviews and conference presentations. Study population and time period were compared between duplicated studies and only independent data were included.

Data collection

The following data were extracted: author, country, region, publication time, study period, number of congenital anomalies, number of total births and reported birth prevalence. Studies were classified into five-year groups according to the year of investigation. We checked the denominator and numerator and recalculated the estimated birth prevalence for accuracy. Countries were classified as low-income, lower-middle-income, upper-middle-income and high-income groups according to the World Bank Income groups [8]. The Newcastle-Ottawa scale (NOS) was used to evaluate the qualities of all studies [9].

Statistical analysis

Birth prevalence was calculated and analyzed using the inverse-variance method. The random-effect model was used for meta-analysis. Pooled prevalence was presented as means (cases per 10,000 births) with 95% confidence intervals (95% CI). Analyses of both crude birth prevalence and subgroup prevalence (by geographic regions, income levels and time periods) were performed. Pooled estimates were compared with chi-square tests. Two-sided p value less than 0.05 was considered significant. Heterogeneity was tested by I [2] statistics. Publication bias was assessed by funnel plots. Statistical analyses were performed by R version 4.1.0.

Results

The initial systematic search identified 10,893 articles. After exclusion of duplicated records, we screened the titles and abstracts. Full texts of 243 articles were evaluated for eligibility. A total of 123 studies including 256,507 cases of eight congenital anomalies and 769,455,220 births were included in this meta-analysis. The PRISMA flow diagram is illustrated in Fig.Ìý1. The characteristics and retrieved data are summarized in Additional file 1 and list of included studies are presented in Additional file 2. The population sizes ranged from 12,762 to 45,755,137 and the publication time were from 1969 to 2024. The study regions covered six continents: Asia, Europe, Oceania (Australasia), Africa, North America and South America. NOS scores of them ranged from 7 to 9 (Additional file 1, 3).

Fig. 1
figure 1

The flowchart of this study

The overall pooled birth prevalence of anomalies were illustrated in Fig.Ìý2. FigureÌý3 showed pooled prevalence among continents and countries with different income levels. Temporal trends of birth prevalence were depicted in Fig.Ìý4. Additional file 4 illustrated the numbers and prevalence.

Fig. 2
figure 2

The overall pooled birth prevalence of congenital anomalies (EA, esophageal atresia; CDH, congenital diaphragmatic hernia; DA, duodenal atresia; IA, intestinal atresia; GA, gastroschisis; OM, omphalocele; HD, Hirschsprung’s disease; ARM, anorectal malformation)

Fig. 3
figure 3

The pooled birth prevalence among continents and countries with different income levels (EA, esophageal atresia; CDH, congenital diaphragmatic hernia; DA, duodenal atresia; IA, intestinal atresia; GA, gastroschisis; OM, omphalocele; HD, Hirschsprung’s disease; ARM, anorectal malformation)

Fig. 4
figure 4

The temporal trends of birth prevalence (EA, esophageal atresia; CDH, congenital diaphragmatic hernia; DA, duodenal atresia; IA, intestinal atresia; GA, gastroschisis; OM, omphalocele; HD, Hirschsprung’s disease; ARM, anorectal malformation)

A total of 30,138 cases of esophageal atresia were reported in 33 studies of 134,014,417 births. The crude pooled birth prevalence of EA was 2.46 cases (95% CI: 2.29–2.63) per 10,000 births. The birth prevalence of EA is highest in Oceania with 3.07 cases (95% CI: 2.72–3.47) and lowest in North America with 1.98 cases (95% CI: 1.62–2.42) per 10,000 births (p = 0.023). Forty-one studies of 210,835,040 births reported on 43,650 cases of congenital diaphragmatic hernia with pooled prevalence of 2.42 cases (95% CI: 2.21–2.66) per 10,000 births. The overall prevalence of CDH decreased prominently from 4.19 per 10,000 births in the 1960s to 1.30 per 10,000 births in the 2020s. 24,433,613 births were included in twelve studies showing that birth prevalence of duodenal atresia was 0.94 cases (95% CI: 0.81–1.09) per 10,000 births. Pooled prevalence of intestinal atresia was 0.86 (95% CI: 0.72–1.01) per 10,000 births with a total of 25,486,780 births in 34 studies. Twenty-nine studies including 45,444 cases of anorectal malformation in 131,778,139 births. The overall birth prevalence of ARM was 3.11 cases (95% CI: 2.77–3.50) per 10,000 births. The crude prevalence of Hirschsprung’s disease was 1.34 cases (95% CI: 1.10–1.63) per 10,000 births with a total population of 43,565,122 in 40 studies. The birth prevalence of HD in Asia was 4.14 per 10,000 births which was significantly higher than that of Europe (p < 0.0001) and that of North America (p = 0.012). Crude birth prevalence of omphalocele was 2.23 cases (95% CI: 2.02–2.46) per 10,000 births reported by 44 studies with 30,808 cases. Omphalocele had significantly higher prevalence in Africa (4.89 cases per 10,000 births) than Asia (p = 0.009), Europe (p = 0.035), North America (p = 0.001) and South America (p = 0.022). Prevalence of omphalocele was also significantly higher in low-income groups (4.89 cases per 10,000 births) than high-income (p = 0.018) and upper-middle-income groups (p = 0.004). Fifty-three studies reported on gastroschisis and the overall prevalence was 1.79 cases (95% CI: 1.55–2.07) per 10,000 births. Prevalence of gastroschisis was highest in South America (3.37 cases per 10,000 births). Additional file 4 illustrated the numbers of prevalence among continents (Supplement table 4a), among countries with different income levels (Supplement table 4b) and temporal trend (Supplement table 4c).

Significant heterogeneities were observed in pooled crude and subgroup estimates (all I2 > 90%; Q statistic, p < 0.05). Birth prevalence estimates did not differ significantly between large and small studies. Funnel plots were symmetrical.

Discussion

This systematic review and meta-analysis assessed worldwide prevalence, spatial distribution and temporal trends of eight major congenital anomalies. Overall birth prevalence of theses eight anomalies ranged from 0.86 to 3.11 cases per 10,000 births.

Our study confirmed previous findings that anorectal malformations were the most common congenital anomalies and reported prevalence of ARM ranged from 2 to 6 cases per 10,000 births [10, 11]. The pooled analysis did not reveal significant differences of birth prevalence of ARM among continents (2.38–3.68 cases per 10,000 births) or regions with different income levels (2.10–4.76 cases per 10,000 births). More than half of patients with ARM presented with associated anomalies including cardiac malformation, genitourinary, and other defects [12]. ARM had stable birth prevalence and remained a major congenital threat to newborns in the world. Geographically both ARM and HD had highest prevalence in Asia and prevalence of HD was significantly low in Europe compared with other continents. Temporal trends showed slight declines of prevalence of DA, IA and EA.

Global birth prevalence of congenital diaphragmatic hernia was shown to have an obvious decline over time. The overall prevalence of CDH decreased sharply from 4.19 per 10,000 births in the 1960s to 1.30 per 10,000 births in the 2020s. Our pooled results of global research studies provided important information on CDH prevalence as conflicting data existed in previous investigations [13, 14]. CDH detected antenatally or in utero could lead to increased rates of termination of pregnancy [15]. This could be related with reduced number of births with CDH and further investigations will be needed to analyze birth prevalence of subtypes of congenital diaphragmatic hernia.

Gastroschisis and omphalocele are both severe birth defects of anterior abdominal wall. This study found increasing temporal trend of birth prevalence of gastroschisis that was similar with previous work [16, 17]. The increase of prevalence of gastroschisis was unlike other anomalies in the study and further research on the causes of this rising trend is needed. A recent research by Feldkamp showed that there was a high increase in prevalence of gastroschisis among young mothers [18]. Interestingly our pooled data showed that birth global prevalence of omphalocele was higher than gastroschisis(2.23 VS 1.79 per 10,000 births), which was different from common views that prevalence of gastroschisis was greater than that of omphalocele [16]. It should be noted that birth prevalence of omphalocele was significantly high in Africa and in low-income countries. The prevalence in Africa was more than twice of that in Europe and the prevalence in low-income countries was also more than twice of that in high-income countries. Different rates of prenatal detection and terminated pregnancies among countries could contribute to the discrepancy of prevalence. Although etiology of congenital anomalies was unclear, risk factors including young maternal age, maternal smoking and alcohol use, lack of folic acid and maternal obesity had been shown to increase the prevalence and potential preventive strategies would be investigated in future [19, 20].

This study has several limitations. The systematic review included studies of selected regions and specific time period. There was heterogeneity of prevalence rates among studies and there could be potential bias in prevalence estimates of the overall population. For some anomalies, only a few research studies had been performed with limited data in some regions. We only included population-based studies in the present review as they were representative of general population and selection bias could be minimized. But exclusion of studies without total population number and exclusion of fetal or maternal abnormalities by original studies could also cause bias. For example, a study that was not included in the analysis showed that birth prevalence of omphalocele in Finland was higher than the pooled result in Europe [21]. Studies provided little information on biological and environmental factors thus we were unable to analyze risk factors of these birth defects. Reports on mortality of these malformations were also highly heterogeneous. Pooled analysis on mortality should be performed in future if more studies on mortality of congenital malformation are published. Births were included in this study. So the decreasing prevalence of some anomalies might be partially attributed to the increasing rates of prenatal diagnosis and termination of pregnancy [21, 22]. There are some congenital reporting databases worldwide such as the European Surveillance of Congenital Anomalies Network and Canadian Congenital Anomalies Surveillance System. But there were only two studies from Africa (Uganda and South Africa) in this analysis. Data from low-income areas were relatively scarce compared with data from high-income areas and there might be reporting bias.

In conclusion, we performed a systematic review and meta-analysis on global birth prevalence of eight major congenital anomalies and analyzed their spatial distribution and temporal trends. Anorectal malformation is the most prevalent congenital anomaly. Prevalence of congenital diaphragmatic hernia decreased significantly from the 1960s to the 2020s. Birth prevalence of omphalocele was high in Africa and in low-income countries.

Data availability

The authors are willing to make their data, analytical methods, and study materials available to other researchers, who can contact wuyang_westchina@hotmail.com to obtain these materials.

Abbreviations

GBD 2015:

The Global Burden of Disease 2015 Study

WHO:

World Health Organization

EA:

Esophageal atresia

CDH:

Congenital diaphragmatic hernia

DA:

Duodenal atresia

IA:

Intestinal atresia

GA:

Gastroschisis

OM:

Omphalocele

HD:

Hirschsprung’s disease

ARM:

Anorectal malformation

PRISMA:

The preferred reporting items for systematic reviews and meta-analyses

NOS:

Newcastle-Ottawa scale

95% CI:

95% confidence intervals

References

  1. GBD 2015 Child Mortality Collaborators. Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980–2015: a systematic analysis for the global burden of Disease Study 2015. Lancet. 2016;388(10053):1725–74.

    Ìý Ìý Ìý

  2. Global PaedSurg Research Collaboration. Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study. Lancet. 2021;398(10297):325–39.

    Ìý Ìý

  3. World Health Organization. Congenital disorders. 2023. (accessed at June,2024).

  4. Liu Y, Chen S, Zühlke L, Black G, Choy M, Li N, et al. Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol. 2019;48(2):455–63.

    Ìý Ìý Ìý Ìý

  5. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64.

    Ìý Ìý Ìý

  6. Ekenze SO, Ajuzieogu OV, Nwomeh BC. Neonatal surgery in Africa: a systematic review and meta-analysis of challenges of management and outcome. Lancet. 2015;385(Suppl 2):S35.

    Ìý Ìý Ìý

  7. Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71.

    Ìý Ìý Ìý Ìý

  8. The World Bank. World Bank Country and Lending Groups. 2024. (accessed at June,2024).

  9. Wells G, Shea B, O’Connell D, Peterson J, Welch V, Losos M et al. The Newcastle-Ottawa scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses.. (accessed at June,2024).

  10. Ford K, Peppa M, Zylbersztejn A, Curry J, Gilbert R. Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study. Arch Dis Child. 2022;107(8):758–66.

    Ìý Ìý Ìý

  11. Kancherla V, Sundar M, Tandaki L, Lux A, Bakker M, Bergman J, et al. Prevalence and mortality among children with anorectal malformation: a multi-country analysis. Birth Defects Res. 2023;115(3):390–404.

    Ìý CASÌý Ìý Ìý

  12. Long AM, Davidson JR, Tyraskis A, Knight M, Coppi P, BAPS-CASS. A Population-based cohort study on diagnosis and Early Management of Anorectal Malformation in the UK and Ireland. J Pediatr Surg. 2024;59(8):1463–9.

    Ìý Ìý Ìý

  13. McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, et al. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed. 2015;100(2):F137–44.

    Ìý Ìý Ìý

  14. Balayla J, Abenhaim HA. Incidence, predictors and outcomes of congenital diaphragmatic hernia: a population-based study of 32 million births in the United States. J Matern Fetal Neonatal Med. 2014;27(14):1438–44.

    Ìý Ìý Ìý

  15. Teunissen NM, Daniels H, Schnater JM, Blaauw Id, Wijnen RMH. Prevalence and early surgical outcome of congenital diaphragmatic hernia in the Netherlands: a population-based cohort study from the European Pediatric Surgical Audit. Arch Dis Child Fetal Neonatal Ed. 2024;109(4):412–20.

    Ìý Ìý Ìý

  16. Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D Jr, LeLong AŠ. Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017. Birth Defects Res. 2024;116(2):e2306.

    Ìý CASÌý Ìý Ìý Ìý

  17. Bhatt P, Poku FA, Umscheid J, Ayensu M, Parmar N, Vasudeva R, et al. Trends in prevalence and mortality of gastroschisis and omphalocele in the United States from 2010 to 2018. World J Pediatr. 2022;18(7):511–4.

    Ìý Ìý Ìý

  18. Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D, Šípek A Jr. Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017. Birth Defects Res. 2024;116(2):e2306.

    Ìý CASÌý Ìý Ìý Ìý

  19. Nembhard WN, Bergman JEH, Politis MD, Arteaga-Vázquez J, Bermejo-Sánchez E, Canfield MA, et al. A multi-country study of prevalence and early childhood mortality among children with omphalocele. Birth Defects Res. 2020;112(20):1787–801.

    Ìý CASÌý Ìý Ìý Ìý

  20. Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F. Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence. Epidemiol Prev. 2018;42(3–4 Suppl 1):1–34.

    Ìý Ìý

  21. Raitio A, Tauriainen A, Syvänen J, Kemppainen T, Löyttyniemi E, et al. Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-based study. Eur J Pediatr Surg. 2021;31(2):172–6.

    Ìý Ìý Ìý

  22. Burgos CM, Frenckner B. Addressing the hidden mortality in CDH: a population-based study. J Pediatr Surg. 2017;52(4):522–5.

    Ìý Ìý Ìý

Acknowledgements

Not applicable.

Funding

This study was supported by the Postdoctor Research Fund of West China Hospital, Sichuan University (2024HXBH152).

Author information

Authors and Affiliations

Authors

Contributions

Yang Wu and Li Zhang contributed to the study conception and design. Material preparation, data collection and analysis were performed by Xiaolong Xie, Jiao Pei. The first draft of the manuscript was written by Xiaolong Xie and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Li Zhang or Yang Wu.

Ethics declarations

Ethics approval and consent to participate

This was a systematic review and meta-analysis thus ethical approval and consent to participate were not required.

Consent for publication

This was a systematic review and meta-analysis thus consent for publication was not applicable.

Competing interests

The authors declare no competing interests.

The submitted manuscript is an original contribution not previously published and will not be submitted to any other journal while it is under consideration by Ó£»¨ÊÓƵ.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Material 4: Numbers of prevalence among continents (Supplement table 4a), among countries with different income levels (Supplement table 4b) and temporal trend (Supplement table 4c). (docx 28.2Ìýkb)

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit .

About this article

Cite this article

Xie, X., Pei, J., Zhang, L. et al. Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis. Ó£»¨ÊÓƵ 25, 449 (2025). https://doi.org/10.1186/s12889-025-21642-6

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/s12889-025-21642-6

Keywords