微阵列比较基因组杂交技术对一例胎儿染色体复杂易位的产前诊断

Applicationof microarray comparative genomic hybridization( array- CGH) in prenatal diagnosis of a fetus with complex chromosome translocation

目的对1例5条染色体发生复杂易位的胎儿作出产前诊断,评价微阵列比较基因组杂交(array-CGH)技术在产前诊断中的应用价值。方法应用G显带分析羊水细胞染色体及夫妇双方外周血染色体,应用array-CGH技术对羊水细胞进行全基因组高分辨扫描分析,了解是否有微小缺失和重复。结果羊水细胞染色体结果为46,XX,t(5;7;12),t(14;21),夫妻双方外周血染色体核型正常,羊水细胞array-CGH结果显示胎儿染色体未发生微缺失或微重复。结论 array-CGH技术与传统细胞学技术相结合,大大提升产前诊断技术水平。

Objectives： Prenatal detection of a fetus with complex chromosome translocation involving five chromosomes. Evaluate the application of microarray comparative genomic hybridization （ array - CGH） in prenatal diagnosis. Methods ： Karyotyping analysis of the peripheral blood of the couple and amniotic fluid were carried out with G - banding. Amniotic fluid high resolution analysis was carried out with array - CGH to investigate micro deletion or/and duplication. Results ： Chromosome analysis of amniotic fluid revealed a karyotype of 46, XX, t （5 ; 7 ; 12） （ 14 ; 21 ）, while the peripheral blood of the couple turned out to be normal, and array - CGH a- nalysis showed no micro deletion and duplication. Conclusion： Combination of classic karyotyping and new array - CGH technology will greatly improve the ability of present prenatal diagnosis.