摘要
目的探讨改良的羊水细胞培养技术联合荧光原位杂交(FISH)对中晚孕期孕妇进行产前诊断的应用价值。方法改进培养方法、建立收获标准、改良染色体制备过程,对71例孕25-39 w具有产前诊断指征的孕妇进行羊水细胞培养并联合FISH进行核型分析。结果羊水细胞培养和FISH分析成功率均为100%。发现异常核型8例,异常比例为11.3%。其中18三体3例,13三体1例,47,XXX 1例,4号和9号染色体臂间倒位各1例,46,XY/45,X0嵌合体1例;除4号和9号染色体臂间倒位不在FISH检测范围外,其余6个染色体异常FISH与核型均同时检出,两者符合率100%。结论较大孕周同样可以进行羊水细胞培养和染色体分析,联合FISH可快捷明确地诊断染色体病,使羊膜腔穿刺进行产前诊断的时间窗延长,降低脐静脉穿刺率和风险。
Objective：To investigate the application value of improved amniotic cell culture united to FISH（fluorescente in situ hybridization） in prenatal diagnosis of middle and late pregnancy.Methods：71 gravida possessing prenatal diagnosis indication accepted improved amniotic cell culture and FISH to analyze fetal karyotype.Gestational weeks were among 25 to 39.Results： Achievement ratio of cell culture and FISH were both up to 100%.8 abnormal karyotype were found,including 3 trisomy 18,1 trisomy 13,1 Trisomy X,1 heterosome chimera,one each in chromosomal 4 and 9 pericentric inversion.Coincidence rate of karyotype and FISH was 100%,except pericentric inversion because of which exceeding detection limit of FISH.Conclusion：Amniotic cell culture and karyotype analysis acciciated FISH was feasible in comparatively large gestational weeks.It can diagnose chromosomal disorder quickly and exactly,and extend the time window of amniocentesis,cut down the risk of venipuncture.
出处
《中国优生与遗传杂志》
2011年第10期46-47,共2页
Chinese Journal of Birth Health & Heredity
