Skip to main content
Log in

Perinatal prevalence of birth defects in the Mainland of China, 2000–2021: a systematic review and meta-analysis

  • Meta-analysis
  • Published:
World Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Background

Although birth defects are of great concern globally, the latest national prevalence has not yet been quantified in China. We conducted a systematic review and meta-analysis to estimate the perinatal prevalence of birth defects in the Mainland of China between 2000 and 2021.

Methods

We performed a systematic literature search of six databases for relevant articles published between January 1, 2000, and March 1, 2023. We included published studies that reported data on the perinatal prevalence of birth defects in the Mainland of China. The DerSimonian and Laird random-effects models were used to estimate the pooled prevalence and its 95% confidence interval (CI). We also conducted subgroup analyses and univariable meta-regressions to explore differences in prevalence by time period, geographic region, and other characteristics.

Results

We included 254 studies reporting the perinatal prevalence of birth defects and 86 studies reporting only the prevalence of specific types of birth defects. Based on 254 studies covering 74,307,037 perinatal births and 985,115 cases with birth defects, the pooled perinatal prevalence of birth defects was 122.54 (95% CI 116.20–128.89) per 10,000 perinatal births in the Mainland of China during 2000–2021. Overall, the perinatal prevalence of birth defects increased from 95.60 (86.51–104.69) per 10,000 in 2000–2004 to 208.94 (175.67–242.22) per 10,000 in 2020–2021. There were also significant disparities among different geographical regions. Congenital heart defects (33.35 per 10,000), clefts of the lip and/or palate (13.52 per 10,000), polydactyly (12.82 per 10,000), neural tube defects (12.82 per 10,000), and inborn errors of metabolism (11.41 per 10,000) were the five most common types of birth defects. The perinatal prevalence among males was significantly higher than that among females (β = 2.44 × 10−3, P = 0.003); a higher perinatal prevalence of birth defects was observed among perinatal births whose mothers were ≥ 35 years (β = 4.34 × 10−3, P < 0.001).

Conclusion

Comprehensive and sustained efforts are needed to strengthen surveillance and detection of birth defects, improve prenatal and postnatal healthcare, and promote rehabilitation, especially in underdeveloped areas.

Graphical abstract

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

Data availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

References

  1. WHO. Factor sheets: congenital disorders; 2023. https://www.who.int/news-room/fact-sheets/detail/birth-defects. Accessed 7 July 2023.

  2. WHO. Congenital disorders—overview; 2023. https://www.who.int/health-topics/congenital-anomalies#tab=tab_1. Accessed 8 July 2023.

  3. GBD 2019 Under-5 Mortality Collaborators. Global, regional, and national progress towards Sustainable Development Goal 3.2 for neonatal and child health: all-cause and cause-specific mortality findings from the Global Burden of Disease Study 2019. Lancet. 2021;398:870–905.

  4. Ministry of Health of the People's Republic of China. National stocktaking report on birth defect prevention (2012). Beijing: Ministry of Health; 2012.

  5. Carmona RH. The global challenges of birth defects and disabilities. Lancet. 2005;366:1142–4.

    Article  PubMed  Google Scholar 

  6. He C, Liu L, Chu Y, Perin J, Dai L, Li X, et al. National and subnational all-cause and cause-specific child mortality in China, 1996–2015: a systematic analysis with implications for the sustainable development goals. Lancet Glob Health. 2017;5:e186–97.

    Article  PubMed  Google Scholar 

  7. WHO. Congenital disorders—impact; 2023. https://www.who.int/health-topics/congenital-anomalies#tab=tab_3. Accessed 28 June 2023.

  8. Frick AP. Advanced maternal age and adverse pregnancy outcomes. Best Pract Res Clin Obstet Gynaecol. 2021;70:92–100.

    Article  PubMed  Google Scholar 

  9. WHO. Congenital disorders—causes; 2023. https://www.who.int/health-topics/congenital-anomalies#tab=tab_2. Accessed 8 July 2023.

  10. Groisman B, Bermejo-Sánchez E, Romitti PA, Botto LD, Feldkamp ML, Walani SR, et al. Join world birth defects day. Pediatr Res. 2019;86:3–4.

    Article  PubMed  Google Scholar 

  11. GBD 2017 Congenital Heart Disease Collaborators. Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Child Adolesc Health. 2020;4:185–200.

  12. WHO. Sixty-third World Health Assembly Provisional agenda item 11.7: Birth defects, 2010. https://apps.who.int/gb/ebwha/pdf_files/WHA63/A63_10-en.pdf. Accessed 8 July 2023.

  13. Li Z, Di J. Prevention and control of birth defects in china: achievements and challenges. China CDC Wkly. 2021;3:771–2.

    Article  PubMed  PubMed Central  Google Scholar 

  14. The Central Committee of the Communist Party of China. Outline of the 14th Five-Year Plan (2021–2025) for National Economic and Social Development and Vision 2035 of the People's Republic of China, 2021. https://www.gov.cn/xinwen/2021-03/13/content_5592681.htm. Accessed 8 July 2023.

  15. The Central Committee of the Communist Party of China, State Council of the People's Republic of China. The Healthy China 2030 Initiative, 2016. https://www.gov.cn/zhengce/2016-10/25/content_5124174.htm. Accessed 8 July 2023.

  16. 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.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Bhide P, Kar A. A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta-analysis. BMC Pediatr. 2018;18:175.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Zhao L, Chen L, Yang T, Wang T, Zhang S, Chen L, et al. Birth prevalence of congenital heart disease in China, 1980–2019: a systematic review and meta-analysis of 617 studies. Eur J Epidemiol. 2020;35:631–42.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Wang M, Yuan Y, Wang Z, Liu D, Wang Z, Sun F, et al. Prevalence of orofacial clefts among live births in china: a systematic review and meta-analysis. Birth Defects Res. 2017;109:1011–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Ministry of Health of the People’s Republic of China. China maternal and child health surveillance work manual (2013 Edition) Finalized, 2013. https://www.mchscn.cn/National-22/450.html. Accessed 20 June 2023.

  21. Dai L, Zhu J, Liang J, Wang YP, Wang H, Mao M. Birth defects surveillance in China. World J Pediatr. 2011;7:302–10.

    Article  PubMed  Google Scholar 

  22. The Joanna Briggs Institute. Critical appraisal tools for use in JBI systematic reviews: checklist for prevalence studies, 2020. https://jbi.global/sites/default/files/2020-08/Checklist_for_Prevalence_Studies.pdf. Accessed 5 March 2023.

  23. Cénat JM, Blais-Rochette C, Morse C, Vandette MP, Noorishad PG, Kogan C, et al. Prevalence and risk factors associated with attention-deficit/hyperactivity disorder among US black individuals: a systematic review and meta-analysis. JAMA Psychiat. 2021;78:21–8.

    Article  Google Scholar 

  24. DerSimonian R, Laird N. Meta-analysis in clinical trials revisited. Contemp Clin Trials. 2015;45:139–45.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ. 2003;327:557–60.

    Article  PubMed  PubMed Central  Google Scholar 

  26. The Cochrane Collaboration. Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]: 9.6.4 Meta-regression, 2011. http://handbook-5-1.cochrane.org/. Accessed 28 September 2023.

  27. Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629–34.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Lin L, Chu H. Quantifying publication bias in meta-analysis. Biometrics. 2018;74:785–94.

    Article  MathSciNet  PubMed  Google Scholar 

  29. Knapp G, Hartung J. Improved tests for a random effects meta-regression with a single covariate. Stat Med. 2003;22:2693–710.

    Article  PubMed  Google Scholar 

  30. The European Surveillance of Congenital Anomalies (EUROCAT). Prevalence charts and tables of congenital anomalies, 2022. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prevalence_en. Accessed 26 June 2023.

  31. Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, et al. National population-based estimates for major birth defects, 2010–2014. Birth Defects Res. 2019;111:1420–35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Hanaoka T, Tamura N, Ito K, Sasaki S, Araki A, Ikeno T, et al. Prevalence and risk of birth defects observed in a prospective cohort study: the Hokkaido Study on Environment and Children’s Health. J Epidemiol. 2018;28:125–32.

    Article  PubMed  PubMed Central  Google Scholar 

  33. Boyd PA, Haeusler M, Barisic I, Loane M, Garne E, Dolk H. Paper 1: the EUROCAT network–organization and processes. Birth Defects Res A Clin Mol Teratol. 2011;91(Suppl 1):S2-15.

    CAS  PubMed  Google Scholar 

  34. National Bureau of Statistics. Statistical Bulletin of the National Economic and Social Development of China in 2022, 2023. http://www.stats.gov.cn/sj/zxfb/202302/t20230228_1919011.html. Accessed 28 June 2023.

  35. Institute for Health Metrics and Evaluation (IHME). GBD Result Tool, 2019. https://vizhub.healthdata.org/gbd-results/. Accessed 28 June 2023.

  36. Qiao J, Wang Y, Li X, Jiang F, Zhang Y, Ma J, et al. A Lancet Commission on 70 years of women’s reproductive, maternal, newborn, child, and adolescent health in China. Lancet. 2021;397:2497–536.

    Article  CAS  PubMed  Google Scholar 

  37. Zhao Y, Zhang H, Peng M, Zhou Y, Cheng X, Yang S, et al. The burden of congenital birth defects between 1990 and 2019 in China: an observational study. Front Pediatr. 2023;11:1170755.

    Article  PubMed  PubMed Central  Google Scholar 

  38. The National Health Commission of the People’s Republic of China. National Comprehensive Prevention and Control Plan for Birth Defects 2018. http://www.nhc.gov.cn/fys/s3589/201812/9644ce7d265342779099d54b6962a4e0.shtml. Accessed 25 June 25 2023.

  39. Wenli X, Changfei D, Wenyan L, Ke W, Jing T, Yuyang G, et al. National perinatal prevalence of selected major birth defects—China, 2010–2018. China CDC Weekly. 2020;2:711–7.

    Google Scholar 

  40. Yang W, Zeng L, Cheng Y, Chen Z, Wang X, Li X, et al. The effects of periconceptional risk factor exposure and micronutrient supplementation on birth defects in Shaanxi Province in Western China. PLoS ONE. 2012;7:e53429.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Li X, Krumholz HM, Yip W, Cheng KK, De Maeseneer J, Meng Q, et al. Quality of primary health care in China: challenges and recommendations. Lancet. 2020;395:1802–12.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Liu Y, Chen S, Zühlke L, Black GC, Choy MK, 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;48:455–63.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Zhang Y, Wang J, Zhao J, Huang G, Liu K, Pan W, et al. Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China. Lancet Child Adolesc Health. 2023;7:479–89.

    Article  PubMed  Google Scholar 

  44. Zhao QM, Liu F, Wu L, Ma XJ, Niu C, Huang GY. Prevalence of Congenital heart disease at live birth in china. J Pediatr. 2019;204:53–8.

    Article  PubMed  Google Scholar 

  45. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009;374:1773–85.

    Article  PubMed  Google Scholar 

  46. Al Amin ASM, Carter KR. Polydactyly. In: StatPearls [Internet]; 2023. https://www.ncbi.nlm.nih.gov/books/NBK562295/. Accessed 2 October 2023.

  47. Department of Maternal and Child Health, National Health Commission of People’s Republic of China. Report on the development of maternal and child health in China (2019), 2019. http://www.nhc.gov.cn/fys/jdt/201905/bbd8e2134a7e47958c5c9ef032e1dfa2.shtml. Accessed 3 October 2023.

  48. Liu J, Zhang L, Li Z, Jin L, Zhang Y, Ye R, et al. Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014. Birth Defects Res A Clin Mol Teratol. 2016;106:267–74.

    Article  CAS  PubMed  Google Scholar 

  49. Zhang TN, Gong TT, Chen YL, Wu QJ, Zhang Y, Jiang CZ, et al. Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006–2015: a population-based study. Oncotarget. 2017;8:17092–104.

    Article  PubMed  PubMed Central  Google Scholar 

  50. National Health Commission of the People’s Republic of China. Notice of the National Health Commission on the Project of Supplementing Folic Acid to Prevent Neural Tube Defects; 2009. http://www.nhc.gov.cn/wjw/gfxwj/201304/02c3c3d51117464aa054c08de04b0468.shtml. Accessed 3 October 2023.

  51. Liu J, Wang L, Zhang Y, Zhang L, Jin L, Li Z, et al. Selected Structural birth defects—Shanxi Province, China, 2000–2019. China CDC Wkly. 2020;2:718–22.

    Article  PubMed  PubMed Central  Google Scholar 

  52. Song Q, Wei J, Wang J, Zhang L, Liu X, Zhang Y, et al. Rate of correct use of folic acid supplementation among pregnant women—Beijing Municipality, China, 2017–2019. China CDC Wkly. 2021;3:783–7.

    Article  PubMed  PubMed Central  Google Scholar 

  53. Wang H, De Steur H, Chen G, Zhang X, Pei L, Gellynck X, et al. Effectiveness of folic acid fortified flour for prevention of neural tube defects in a high risk region. Nutrients. 2016;8:152.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Kancherla V, Botto LD, Rowe LA, Shlobin NA, Caceres A, Arynchyna-Smith A, et al. Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid. Lancet Glob Health. 2022;10:e1053–7.

    Article  CAS  PubMed  Google Scholar 

  55. Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018;8:021102.

    Article  PubMed  PubMed Central  Google Scholar 

  56. Sokal R, Tata LJ, Fleming KM. Sex prevalence of major congenital anomalies in the United Kingdom: a national population-based study and international comparison meta-analysis. Birth Defects Res A Clin Mol Teratol. 2014;100:79–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Michalski AM, Richardson SD, Browne ML, Carmichael SL, Canfield MA, VanZutphen AR, et al. Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009. Am J Med Genet A. 2015;167a:1071–81.

  58. Copp AJ, Stanier P, Greene ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013;12:799–810.

    Article  PubMed  PubMed Central  Google Scholar 

  59. Ahn D, Kim J, Kang J, Kim YH, Kim K. Congenital anomalies and maternal age: a systematic review and meta-analysis of observational studies. Acta Obstet Gynecol Scand. 2022;101:484–98.

    Article  PubMed  PubMed Central  Google Scholar 

  60. Frederiksen LE, Ernst A, Brix N, Braskhøj Lauridsen LL, Roos L, Ramlau-Hansen CH, et al. Risk of adverse pregnancy outcomes at advanced maternal age. Obstet Gynecol. 2018;131:457–63.

    Article  PubMed  Google Scholar 

  61. Marozio L, Picardo E, Filippini C, Mainolfi E, Berchialla P, Cavallo F, et al. Maternal age over 40 years and pregnancy outcome: a hospital-based survey. J Matern Fetal Neonatal Med. 2019;32:1602–8.

    Article  PubMed  Google Scholar 

  62. Goetzinger KR, Shanks AL, Odibo AO, Macones GA, Cahill AG. Advanced maternal age and the risk of major congenital anomalies. Am J Perinatol. 2017;34:217–22.

    PubMed  Google Scholar 

  63. Li HT, Xue M, Hellerstein S, Cai Y, Gao Y, Zhang Y, et al. Association of China’s universal two child policy with changes in births and birth related health factors: national, descriptive comparative study. BMJ. 2019;366:l4680.

    Article  PubMed  PubMed Central  Google Scholar 

  64. Sterne JA, Egger M, Smith GD. Systematic reviews in health care: Investigating and dealing with publication and other biases in meta-analysis. BMJ. 2001;323:101–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  65. Tawfik GM, Giang HTN, Ghozy S, Altibi AM, Kandil H, Le HH, et al. Protocol registration issues of systematic review and meta-analysis studies: a survey of global researchers. BMC Med Res Methodol. 2020;20:213.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We appreciate the support from the Department of Maternal and Child Health, National Health Commission of the People's Republic of China.

Funding

This study was supported by the Department of Maternal and Child Health, National Health Commission of the People's Republic of China.

Author information

Authors and Affiliations

Authors

Contributions

LWN, LM: conceptualization, supervision, writing–review and editing. KLY: data curation, formal analysis, writing–original draft. GZR, SWJ: data curation, formal analysis. CGY, ZYP, WQM, SHP: supervision, methodology. LWN and LM contributed equally as co-corresponding authors.

Corresponding authors

Correspondence to Wan-Nian Liang or Min Liu.

Ethics declarations

Conflict of interest

No financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.

Ethical approval

Not applicable.

Additional information

Publisher's Note

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

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file 1 (DOCX 2461 KB)

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kang, LY., Guo, ZR., Shang, WJ. et al. Perinatal prevalence of birth defects in the Mainland of China, 2000–2021: a systematic review and meta-analysis. World J Pediatr (2024). https://doi.org/10.1007/s12519-023-00786-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s12519-023-00786-8

Keywords

Navigation