J Korean Med Sci.  2023 Oct;38(39):e304. 10.3346/jkms.2023.38.e304.

Major Congenital Anomalies in Korean Livebirths in 2013–2014: Based on the National Health Insurance Database

• Lee JA
• Lee SM
• Chung SH
• Lee JH
• Shim JW
• Lim JW
• Kim CR
• Chang YS

• KMID: 2546927
• DOI: http://doi.org/10.3346/jkms.2023.38.e304

Abstract

Background
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and longterm mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
Methods
Korean National Health Insurance claim data were obtained for neonates born in 2013–2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
Results
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
Conclusion
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.

Keyword

Congenital Anomaly; Korea; Prevalence; Mortality; Surgery

Reference

1. Rynn L, Cragan JM, Correa AM. Update on Overall Prevalence of Major Birth Defects - Atlanta, Georgia, 1978–2005. Atlanta, GA, USA: U.S. Center for Disease Control;2008. p. 1–5.

2. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010; 686:349–364. PMID: 20824455.

3. Kim A, Kim SR, Yang SH, Han JY, Kim MY, Yang JH, et al. Multi-center study for birth defects monitoring systems in Korea. Korean J Obstet Gynecol. 2002; 45(11):1924–1931.

4. Chung SH, Kim HY, Kim JH, Choi YS, Lee BS, Kim KS, et al. Changing patterns of congenital anomalies over ten years in a single neonatal intensive care unit. Korean J Perinatol. 2013; 24(1):11–19.

5. Kim MA, Yee NH, Choi JS, Choi JY, Seo K. Prevalence of birth defects in Korean livebirths, 2005–2006. J Korean Med Sci. 2012; 27(10):1233–1240. PMID: 23091323.

6. Lamichhane DK, Leem JH, Park M, Kim JA, Kim HC, Kim JH, et al. Increased prevalence of some birth defects in Korea, 2009–2010. BMC Pregnancy Childbirth. 2016; 16(1):61. PMID: 27006092.

7. Ko JK, Lamichhane DK, Kim HC, Leem JH. Trends in the prevalences of selected birth defects in Korea (2008–2014). Int J Environ Res Public Health. 2018; 15(5):923. PMID: 29734759.

8. Chung SH, Kim CY, Lee BS. Korean Neonatal Network. Congenital anomalies in very-low-birth-weight infants: a nationwide cohort study. Neonatology. 2020; 117(5):584–591. PMID: 32772029.

9. Ely DM, Driscoll AK. Infant mortality in the United States, 2020: data from the period linked birth/infant death file. Natl Vital Stat Rep. 2022; 71(5):1–18.

10. Boyle B, Addor MC, Arriola L, Barisic I, Bianchi F, Csáky-Szunyogh M, et al. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data. Arch Dis Child Fetal Neonatal Ed. 2018; 103(1):F22–F28. PMID: 28667189.

11. Honein MA, Kirby RS, Meyer RE, Xing J, Skerrette NI, Yuskiv N, et al. The association between major birth defects and preterm birth. Matern Child Health J. 2009; 13(2):164–175. PMID: 18484173.

12. European network of population-based registries for the epidemiological surveillance of congenital aonmalies (EUROCAT). 3.3 EUROCAT Subgroups of Congenital Anomalies. Updated 2022. Accessed December 16, 2022. https://eu-rd-platform.jrc.ec.europa.eu/system/files/public/eurocat/Guide_1.5_Chapter_3.3.pdf .

13. KOSIS. The number of births by gestational age at birth. Updated 2022. Accessed December 16, 2022. https://kosis.kr/statHtml/statHtml.do?orgId=101&tblId=DT_1B81A15&vw_cd=MT_ZTITLE&list_id=A21&scrId=&seqNo=&lang_mode=ko&obj_var_id=&itm_id=&conn_path=MT_ZTITLE&path=%252FstatisticsList%252FstatisticsListIndex.do .

14. Glinianaia SV, Rankin J, Pierini A, Coi A, Santoro M, Tan J, et al. Ten-year survival of children with congenital anomalies: a European cohort study. Pediatrics. 2022; 149(3):e2021053793. PMID: 35146505.

15. Jung SC, Kim SS, Yoon KS, Lee JS. Prevalence of congenital malformations and genetic diseases in Korea. J Hum Genet. 1999; 44(1):30–34. PMID: 9929974.

16. 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(18):1420–1435. PMID: 31580536.

17. KOSIS. Vital statistics of Korea. Updated 2022. Accessed December 16, 2022. https://kosis.kr/statHtml/statHtml.do?orgId=101&tblId=DT_1B8000F&vw_cd=MT_ETITLE&list_id=A2_6&scrId=&seqNo=&language=en&lang_mode=en&obj_var_id=&itm_id=&conn_path=MT_ETITLE&path=Population%2520%253E%2520Vital%2520Statistics%28Live%2520Birth%252CDeath%252CMarriage%252CDivorce%29%2520%253E%2520Vital%2520Statistics%2520of%2520Korea .

18. van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011; 58(21):2241–2247. PMID: 22078432.

19. 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(2):455–463. PMID: 30783674.

20. Government of Canada. Congenital anomalies in Canada. Updated 2022. Accessed May 8, 2023. https://health-infobase.canada.ca/congenital-anomalies/data-tool/ .

21. Mezawa H, Tomotaki A, Yamamoto-Hanada K, Ishitsuka K, Ayabe T, Konishi M, et al. Prevalence of congenital anomalies in the Japan Environment and Children’s study. J Epidemiol. 2019; 29(7):247–256. PMID: 30249945.