All issues > Volume 43(6); 2000

Original Article

J Korean Pediatr Soc. 2000;43(6):738-745. Published online June 15, 2000.

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

Hyon Ju HJ Kim¹, Yeon Kyeoung YK Kim¹, Dae Kyun DK Koh², Jong Hyun JH Kim², Bo Won BW Choi³

¹Genetics Clinic, Ajou University Hospital, Suwon, Korea
²Department of Pediatric, St. Vincent`s Hospital, School of Medicine, Catholic University of Korea, Suwon, Korea
³Members of the Korean Association of Obstetricians & Gynecologists in Suwon city, Suwon, Korea

Abstract

Purpose
: This prospective pilot study is a part of the Korean NIH’s effort to characterize congenital 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 stillborn and 27 TOPs. The overall incidence of congenital anomalies was 1.2%(366 cases among 30,653 deliveries) with 0.5% from primary hospital, 1.4% of general hospital deliveries and 4.5% 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 38% of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies.

Keywords :Congenital anomaly, Genetic disease, Incidence, Epidemiologic study, High risk population