荧光原位杂交技术在检测胎儿染色体数目异常中的应用

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。

To evaluate the feasibility of using FISH for the detection of fetal chromosomal abnormalities

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.