Analysis of 1,046 Cases of Midtrimester Genetic Amniocentesis / 대한산부인과학회잡지

ABSTRACT

Prenatal diagnosis of genetic disorders is now an established part of routine antenatalcare. This is a study of our experience with 1,046 cases that have been undergone amniocentesisat the Guro Hospital of the Korea University Medical School from October 1983 toJune 1996. Advanced maternal age was by far the most common indication of amniocentesis.Chromosomal aberrations were diagnosed in 15 cases(1.4%) of which numerical aberrationwas 9 cases(60/0%) and structural aberration was 6 cases(40.0%). Autosomal aberrationwas observed in fourteen cases(93.3%) and sex chromosomal aberration was observedin one case(6.7%). Among the 14 autosomal aberrations, trisomy 21 was most common,being 5 cases, and one case of trisomy 13 and another case of trisomy 18 was found respectively.The others were 4 cases of translocation, one case of inversion and another case ofisochromosome. Sex chomosomal aberration case was only one and it was a Klinefeltersyndrome.