A Review of Prenatal Cytogenetic Analysis in 2942 Midtrimester Amniocentesis / 대한산부인과학회잡지

ABSTRACT

OBJECTIVES: To analyze 2942 cases of prenatal genetic amniocentesis with their cytogenetic results. METHODS: This study reviewed 2942 genetic amniocentesis results which were perfomed at Ilsin Christian Hospital from 1993 to 1999, as prenatal genetic diagnosis for the possibility of chromosomal abnormality of fetus. Age distribution, gestational weeks, indications of amniocentesis and cytogenetic results were the key factors for the analysis. RESULTS: Maternal ages were ranged from 20 to 45, mostly 25-39. Of indications of prenatal genetic amniocentesis, abnormal maternal serum marker was the most common(57.9%) and followed by advanced maternal age(29.3%). The frequency of abnormal karyotypes was 3.1%(90/2942). Down syndrome(trisomy 21) and inversion of chromosome were found at 0.8%(24/2942) and 1.0%(30/2942). The incidence of abnormal karyotype according to indication had statistical significance in family history and abnormal ultrasonographic findings.(p<0.001) CONCLUSIONS: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis. In addition to the maternal serum markers and maternal ages, complete family history takings and ultrasonograms should be considered in prenatal genetic counseling.