细菌人工染色体标记-微球鉴别/分离法对1239份羊水的快速产前诊断

目的探讨细菌人工染色体标记-微球鉴别/分离法(bacterial artificial chromosomes-on-beads,BoBs)联合染色体核型分析在产前诊断中的应用价值。方法1239例有产前诊断指征的孕妇羊水细胞行染色体核型分析和BoBs检测,检测结果进行比较分析。结果1239例羊水中共发现胎儿染色体异常30例,检出率为2.42%,其中染色体核型分析检出25例,BoBs检出25例。30例异常核型中,染色体非整倍体17例,BoBs检测结果与染色体核型分析结果吻合;染色体微缺失/微重复综合征8例,染色体核型分析检出3例;染色体结构异常5例,BoBs检测未见异常。结论BoBs技术联合染色体核型分析可快速检测胎儿染色体异常及常见微缺失/微重复综合征,大大提高了产前诊断的效率及准确性。

Prenatal diagnosis of bacterial artifi cial chromosomes-on-beads assay in 1239 cases of amniotic fl uid cells

Objective:To assess the clinical value of bacterial artificial chromosomes-on-beads(BoBs)assay combined with chromosomal karyotyping in prenatal diagnosis.Methods:1239 cases of amniotic fluid cells with indications for prenatal diagnosis were detected by BoBs and chromosomal karyotyping simultaneously.Results:30 chromosomal abnormalities were found in 1239 samples,of which 25 were detected by karyotyping and 25 by BoBs assay,and the overall abnormality detection rate was 2.42%.17 chromosomal aneuploidies were detected by both karyotyping and BoBs.8 microdeletion/microduplication syndromes were successfully detected by BoBs and only 3 were found by karyotyping.Meanwhile,5 structural abnormalities were detected by karyotyping,but missed by BoBs.Conclusion:BoBs combined with chromosomal karyotyping can rapidly detect fetal chromosomal abnormalities and common microdeleton/microduplication syndromes with high efficiency and accuracy.