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Prevalence of congenital malformations and genetic diseases in Korea
1Division of Genetic Disease, National Institute of Health, Seoul, Korea. jungsc@nih.go.kr
Insights
This study analyzed Korean medical insurance data from 1993-1994 to identify congenital malformations and genetic diseases in infants. Cardiovascular anomalies, particularly ventricular septal defect, were most common, impacting public health planning.
Area of Science:
- Pediatrics
- Medical Genetics
- Public Health
Background:
- Congenital malformations and genetic diseases pose significant health challenges globally.
- Understanding the prevalence and patterns of these conditions is crucial for effective healthcare planning and resource allocation.
Purpose of the Study:
- To investigate the prevalence and patterns of congenital malformations and genetic diseases in Korean infants using nationwide medical insurance data.
- To estimate the associated medical expenses for these conditions.
Main Methods:
- Analysis of Korean Medical Insurance data for infants under 1 year old from 1993-1994.
- Classification of diseases using the International Classification of Diseases, Ninth Revision (ICD-9) codes.
- Calculation of prevalence rates per 1000 infants for various anomalies and estimation of total medical expenses.
Main Results:
- Cardiovascular anomalies were most frequent (15/1000 infants), with ventricular septal defect being the most common (3.50/1000).
- Polydactyly (1.20/1000) was the leading musculoskeletal anomaly; anencephaly and congenital hypertrophic pyloric stenosis were most frequent in the nervous and gastrointestinal systems, respectively.
- Ventricular septal defect, congenital coagulation factor VIII disorders, and atrial septal defect incurred the highest medical expenses.
Conclusions:
- The prevalence of congenital malformations in Korea is comparable to international reports.
- Findings provide valuable data for social welfare system planning and understanding the burden of these diseases in Korea and potentially other Asian countries.
Abstract:
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.