저자들은 산전 염색체검사에 있어서 FISH법의 임상적 유용성을 검증하고자 융모막 융모세포 및 양수세포, 제대혈 검사를 통해 얻은 태아 혈액세포를 이용하여 4개의 서로 다른 소식자를 적용, 세포분열 간기 및 중기의 태아 세포에서 염색체 이수성 검사를 실시해 본 결과 총 15예 전체에서 전통적인 세포 염색체 핵형 검사와 일치하는 고무적인 결과를 얻었으며 비록 이번 연구 결과가 증례수가 적어 그 유용성을 검증하기 위해서는 대규모의 전향성 연구가 필요할 것으로 보이나 앞으로 FISH법은 태아 염색체 이수성의 산전 진단에 있어서 신속하고 효과적인 보조적 수단으로 각광받을 것으로 보인다.

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.