Multicenter Trial of Aberrations of Chromosomes in Abortuses, Chorionic villi, Amniocytes, and Fetal Blood Cells

Jun, Jong Kwan; Choe, Jin; Choi, Young Min; Hwang, Do Yeong; Oh, Sun Kyung; Moon, Shin Yong; Lee, Jin Yong

Abstract

OBJECTIVES
Chromosomal anomalies are common disease entity among genetic diseases. But there are scanty reports about the status of chromosomal abnormalities in Korean. In addition, the comprehensive multi-center study of chromosomal abnormalities in Korean has never been performed.
METHODS
We have collected 1,793 cases (394 abortuses; 198 chorionic villi; 1,060 amniotic fluid cells; 141 fetal blood), which showed abnormal karyotype results from twenty three cytogenetic centers in Korea from the year of 1977 to 1999.
RESULTS
In abortuses, numerical chromosomal abnormalities was 85%, and structural abnormalities was 13% and the most frequent anomaly was trisomy 16. In chorionic villi, numerical anomaly was 60.0% and structural anomaly was 31.3% and the most frequent karyotype was Down syndrome. In amniotic fluid cells, structural anomaly exceeded the number of numerical anomaly and the most frequent anomaly was Down syndrome. In fetal blood, numerical anomaly was 63.8% and the most frequent karyotype was trisomy 18 (23.4%)
CONCLUSIONS
This may be the first comprehensive and multi-center study in Korea. The proportion of the abnormal karyotypes in each specimens was different from each other. Based on this study, the more comprehensive study should be performed to all the Korean population.