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The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data

Authors Cho WK, Lee NY, Han K, Suh BK, Park YG

Received 27 February 2020

Accepted for publication 16 May 2020

Published 27 May 2020 Volume 2020:12 Pages 519—525

DOI https://doi.org/10.2147/CLEP.S251637

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Vera Ehrenstein


Won Kyoung Cho,1 Na Young Lee,1 Kyungdo Han,2 Byung-Kyu Suh,3 Yong-Gyu Park2

1Department of Pediatrics, College of Medicine, St. Vincent’s Hospital, The Catholic University of Korea, Seoul, Republic of Korea; 2Department of Biostatistics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea; 3Department of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of Korea

Correspondence: Byung-Kyu Suh
Department of Pediatrics, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, 222, Banpo-daero, Seocho-gu, Seoul 06591, Republic of Korea
Tel +82-2-2258-6185
Fax +82-2-537-4544
Email suhbk@catholic.ac.kr
Yong-Gyu Park
Department of Biostatistics, College of Medicine, The Catholic University of Korea, 222, Banpo-daero, Seocho-gu, Seoul 06591, Republic of Korea
Tel +82-2-2258-6930
Fax +82-2-537-4548
Email ygpark@catholic.ac.kr

Background: In the present study, we estimated the population prevalence, associations of congenital heart defect (CHD) and mortality risk for DS using data from National Health Insurance Service (NHIS) and Rare Diseases Registry (RDR).
Methods: We collected data on subjects with DS who were registered in the RDR between 2010 and 2015. To estimate associations of CHD and mortality risk of DS, the data of DS subjects were compared with 1:5 age- and sex-matched controls.
Results: In 2015, 2077 individuals with DS were identified out of the total population of 51,574,044 South Koreans and the prevalence was 4.03 per 100,000 persons. The trend of DS population prevalence across 10-year-old intervals showed a peak in the group under the age of 10 years (26.0 per 100,000 persons) and then declined sharply after the age of 20 years (0.98 per 100,000 persons at 30– 39 years of age). In subjects with DS, the frequencies of atrial septal defect [odds ratios (OR) =65.9; 95% CI, 84.1– 99.1], ventricular septal defect (OR = 88.1, 95% CI, 57.9– 134.1), patent ductus arteriosus (OR = 56.9, 95% CI, 40.1– 80.8), tetralogy of fallot (OR = 42.1, 95% CI, 19.3– 92.3), or atrioventricular septal defect (OR = 510.0, 95% CI, 126.7– 999.0) were higher than those of age- and sex-matched controls. The risk of death in patients with DS was significantly higher than that of age- and sex-matched controls [hazard ratio (HR) =41.7, 95% CI 20.0– 87.0].
Conclusion: In South Korea, the DS population prevalence was 4.03 per 100,000 persons in 2015. The subjects with DS were more likely to accompany CHD and have higher mortality risk than healthy controls.

Keywords: prevalence, Down’s syndrome, congenital heart defect, mortality

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