羊水细胞培养及FISH技术用于产前诊断——附117例分析

APPLICATION OF AMNIOTIC CELL CULTURE AND FLUORESCENCE IN SITU HYBRYDIZATION TECHNIQUE FOR PRENATAL DIAGNOSIS

目的:探讨羊水细胞培养及荧光原位杂交(FISH)技术在产前诊断中的实验方法及应用价值。方法:对117例孕17～27周有产前诊断指征者,在B超引导下抽取羊水,培养、制备羊水细胞分裂中期染色体,其中1例同时用未培养羊水做间期细胞FISH,另1例用培养后细胞生长不佳的羊水做FISH,两者均采用生物素标记的X、Y、21号染色体探针。结果:羊水细胞培养成功109例,占93.16%;培养失败8例,占6.84%。109例羊水细胞培养分裂中期染色体核型:正常核型46,XX(XY)有95例,占87.16%;异常核型14例,占12.84%。1例间期细胞FISH与羊水培养结果一致,另1例羊水细胞培养仅收到很少分裂中期染色体,改做FISH后可见到较好的荧光信号。结论:FISH技术与羊水细胞培养结合用于产前诊断,提高了诊断的准确性。

Objective:To study the experimental method of amniotic cell culture with fluores-cence in situ hybrydization(FISH)for prenatal diagnosis and its application value.Method:Amnio-centeses were collected under the ultrasonic wave from117pregnant women of17～27gestational weeks who had indications of prenatal diagnosis.The amniotic fluid samples were cultured and then the metaphase chromosomes were made.FISH were performed on two of those cases.One of which was not only carried out by amniotic cell culture,but by FISH with uncultured amniotic fluid at the mean time.The other one was performed on FISH with the amniotic fluid that had been cultured,but the amniotic cell grew badly.Both were performed on FISH with the biotin probes of X,Y,21chromo-somes.Results:The success rate of amniotic cell culture was93.16%(109cases).The normal kary-otypes were shown in the95cases(46,XX and46,XY)and abnormalities were found in14cases from total109cases.The result from one case with interphase cells by FISH was coincidence with it by amniotic cell culture.The other case got a little metaphase chromosomes by amniotic cell culture,and then got better signals in interphase cells by FISH.Conclusion:FISH technique combined with am ni otic cell culture could be better in the prenatal diagnosis.