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Prevalence of congenital malformations and genetic diseases in Korea

 S.-C. Jung  ;  Sung-Soo Kim  ;  Kyung-Sik Yoon  ;  Jin-Sung Lee 
 Journal of Human Genetics, Vol.44(1) : 30-34, 1999 
Journal Title
 Journal of Human Genetics 
Issue Date
Cardiovascular Abnormalities/epidemiology ; Congenital Abnormalities/economics ; Congenital Abnormalities/epidemiology* ; Digestive System Abnormalities ; Female ; Genetic Diseases, Inborn/economics ; Genetic Diseases, Inborn/epidemiology* ; Health Care Costs ; Humans ; Infant ; Infant, Newborn ; Insurance, Health ; Korea/epidemiology ; Male ; Musculoskeletal Abnormalities/epidemiology
A nationwide investigation of congenital malformations and genetic diseases in Korea was conducted by analyzing Medical Insurance data for infants aged under 1 year. Medical Insurance data were obtained for 1993 and 1994 and the ICD-9 (International Classification of Diseases, Ninth Revision) code was used to classify the diseases. The coverage rate of medical insurance was approximately 95% of the total population. Anomalies of the cardiovascular, musculoskeletal, and gastrointestinal systems, in descending order of frequency, were more frequent than anomalies in other systems. The average prevalence of cardiovascular anomalies for 1993 and 1994 was 15 per 1000 infants, and ventricular septal defect, with an average prevalence of about 3.50 per 1000 for 1993 and 1994, was the most frequent cardiovascular anomaly in infants. Polydactyly was the most frequent musculoskeletal anomaly, with an average prevalence, for 1993 and 1994, of about 1.20 per 1000 infants. Anencephaly had the highest frequency of nervous system anomalies. Congenital hypertrophic pyloric stenosis was the most common of the gastrointestinal anomalies. The prevalence of the congenital malformations and genetic diseases examined was similar to that reported in other countries. Total medical expenses for the care of patients with each disease entity were also estimated. The highest medical expenses were incurred for ventricular septal defect, congenital coagulation factor VIII disorders, atrial septal defect, tetralogy of Fallot, and spinal anomalies, in descending order of magnitude. This investigation could be helpful in planning social welfare systems, as well as for elucidating the current status of congenital malformations and genetic diseases in Korea, and in other Asian countries.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
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