A Prospective Epidemiological Study on Birth Defects: A Community Based Pilot Study

ABSTRACT

PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43738-745)