Prevalence of congenital malformations and genetic diseases in Korea

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.

Increased prevalence of some birth defects in Korea, 2009–2010

“…In 1993–1994, the overall prevalence of birth defects per 10,000 infants less than one year was 368.3 (95 % CI: 364.9–371.8), and cardiovascular anomalies were the most common defects followed by musculoskeletal and gastrointestinal anomalies [ 19 ]. Table 3 shows the prevalence (95 % CI) for the selected birth defects based on the ranking of decreased prevalence according to percentage change in 2009–2010 with respect to 1993–1994, while Table 4 summarizes the prevalence based on the ranking of increased prevalence.…”

“…In addition, the prevalence of birth defects for 2009–2010 was compared with that of a similar study conducted 16 years previously [ 19 ]. In this study, 601,376 infants aged under one year were covered by medical insurance in 1993 and 601,459 in 1994.…”

Cleft lip and Palate Incidence Among the Live Births in the Republic of Korea

“…Since 1989, National Federation of Medical Insurance (NFMI) system has been operative in Korea. A nationwide investigation of the prevalences of other congenital malformations was performed with using this medical insurance data (9). There has not been any birth defect monitoring project in Korea, so we investigated the incidence of cleft lip and palate among the live births in Korea using the medical insurance data.…”

La mortalidad infantil por malformaciones congénitas en México: un problema de oportunidad y acceso al tratamiento

“…Esta disminución de las TMIe no debe atribuirse a la disminución de su incidencia (12,13), sino al aumento en la eficacia del sistema de salud, al brindar tratamientos relativa-…”