FISH ( Fluorescence in situ hybridization ) 을 이용한 신속한 산전 염색체 이수성 ( Aneuploidies ) 진단

Abstract

Introduction: The traditional cytogenetic analysis requires relatively long cell culture time, intensive labour and trained personnel. But in clinical situations, the prenatal diagnosis of genetic disease and incidental finding of abnormal ultrasonographic finding need urgent decisions on future management. So we need more rapid and precise diagnostic tools of prenatal genetic counselling. The fluorescence in situ hybridization (FISH) has been studied for detecting chromosomal aneuploidies because this method can get rapid results of cytogenetic studies. Objectives: To evaluate the clinical utility of prenatal diagnosis of chromosomal aneuploidies by using FISH. Materials and methods: chorionic villi (n=6), amniotic fluid (n=7), fetal blood (n=2) were obtained from 15 pregnancies undergoing fetal karyotyping at 9 to 30 weeks of gestation for prenatal genetic counselling.Karyotyping was performed by both traditional cytogenetics and FISH, using commertially available kits. After the procedures, the results of FISH were compared with the results of traditional cytogenetic studies. Results: In a blind series of 15 samples all, including one case of trisomy 21, one case of trisomy 18 and one case of monosomy X, were correctly identified. Conclusions: FISH is a rapid and effective methods for detection of chromosomal aneuploidies in prenatal diagnosis and yields possible clue of fetal genetic diagnosis with pregnant maternal peripheral blood.