摘要
目的应用荧光原位杂交(FISH)技术及细胞学对照,研究FISH产前诊断染色体异常的临床应用。方法应用5种(21、13、18、X和Y)FISH探针,平行细胞染色体分析进行565名孕妇产前诊断检测。结果565例产前诊断病历,共检出非整倍体异常核型19例,FISH检测与细胞染色体分析结果一致。结论荧光原位杂交(13,18,21,X和Y)探针,能有效检测间期羊水细胞的绝大多数非整倍体异常,且24～48h出结果。能缓解妊娠妇女的焦虑情绪。
Objective：To evaluate the application of fluorescence in situ hybridization（FISH）in prenatal diagnosis of Chromosome abnormalities.In the mean time,cytogenetic karyotype analysis was performed as control.Methods：5 chromosomes（21,13,18,X and Y）were detected with FISH.Five hundred and sixty-five patients were selected for prenatal diagnosis.Results：Of all the samples,565 samples were tested.Nineteen samples were shown with abnormal karyotypes.Results of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes.Conclusion：Fluorescence in situ hybridization （21,18,13,X,and Y）probes can effectively detect aneuploidy from interphase cells of amniotic fluid and obtain results within 24 to 48 hours after sample receiving.FISH can earlier relieve anxiety of pregnant women.
出处
《中国优生与遗传杂志》
2010年第4期46-47,共2页
Chinese Journal of Birth Health & Heredity
基金
北京市自然科研基金资助(No:7082033)
国家自然科研基金资助(No:30771197)
关键词
荧光原位杂交技术
产前诊断
染色体异常
Fluorescence in situ hybridization
Prenatal diagnosis
Chromosome abnormalities
