【摘要】 目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在检测胎儿染色体数目异常中的临床应用价值。方法对50例孕16～22周妊娠妇女羊水间期细胞进行FISH(13、21、18、X、Y)快速产前诊断,以常规羊水细胞培养染色体核型分析作为FISH检测结果对照。结果被检50例羊水间期细胞均获得诊断结果,其中48例为正常胎儿,两例为异常胎儿(1例为48,XXY+21,另1例为47,XXX)。FISH检测与常规染色体核型分析结果一致。结论FISH检测胎儿染色体数目异常具有快速、简便等优点,结果准确可靠,有较大临床应用价值。更多还原

【Abstract】 Objective:To evaluate the feasibility of using fluorescence in situ hybridization(FISH) for the detection of fetal chromosomal abnormalities.Methods:Amniotic fluid samples were taken from 50 women at 16-22 weeks of pregnancy;FISH was performed for rapid prenatal diagnosis(aneuploidies of five chromosomes 13,21,18,X and Y).Then the karyotypes from standard cytogenetic analysis was compared to the FISH results.Results:Each of the 50 uncultured amniotic fluid samples tested with FISH have results,forty-eight samples were normal,two samples were abnormal (one sample was 48,XXY+21,the other was 47,XXX).Conclusion:FISH analysis of fetal chromosomal abnormalities is a rapid,easy,accurate and very sensitive method.It could be used in clinical diagnosis.更多还原