| A Prospective Epidemiological Study on Birth Defects : A Community Based Pilot Study |
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Hyon Ju Kim1, Yeon Kyeoung Kim1, Dae Kyun Koh2, Jong Hyun Kim2, Bo Won 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 |
| 선천성 기형 및 유전성 질환의 전향적 역학 조사 |
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김현주1, 김연경1, 고대균2, 김종현2, 최보원 외 39명3 |
1아주대학교병원 유전학클리닉
2가톨릭의대 성빈센트병원 소아과
3대한산부인과학회 경기수원시 산부인과지회 |
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| 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. |
| Key Words:
Congenital anomaly, Genetic disease, Incidence, Epidemiologic study, High risk population |
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