【摘要】 目的探讨染色体核型分析+Bo Bs检测技术在产前诊断中的联合应用价值。方法选取接受产前诊断的孕妇884例,行染色体核型分析和产前Bo Bs检测,Bo Bs检测阳性病例送SNP array检测,并对检测结果比较分析。结果 884例羊水样本中共检出57例染色体非整倍体,55例核型分析与Bo Bs检测结果一致,2例羊水细胞培养失败经Bo Bs检测提示为47,XYY和21-三体。与核型分析结果相比,Bo Bs检测到8例微缺失/重复样本;核型分析到的6例嵌合体、5例臂间倒位、1例平衡易位和22例染色体多态性变化Bo Bs未检出。结论核型分析和Bo Bs检测在产前诊断中的联合应用,能全面快速检测胎儿染色体异常和九种染色体微缺失综合征,具有较高的临床应用价值。更多还原

【Abstract】 Objective:To analyze the clinical application in prenatal diagnosis based on the BACs-on-Beads(Bo Bs)technique combined with amniotic fluid cells karyotype analysis. Methods:Collected 884 cases of prenatal diagnosis maternal with high risk. Bo Bs was performed for rapid prenatal diagnosis,compared to the karyotyping results from standard cytogenetic culture. Results:In aneuploid chromosomes testing of the 884 cases,57 chromosomes heteroploid were detected,including the results by Bo Bs were accordant with traditional karyotyping analysis in 55 cases and 2 cases of amniotic fluid cell culture was showed 47,XYY and 21-trisomy by Bo Bs detection. 8 cases of chromosome microdeletion/duplication was successfully examined by Bo Bs. However,6 cases of chimera、5 cases of pericentruc invertion,1 cases of balanced translocation and 22 cases of normal variant were failed to detected by Bo Bs. Conclusion:The clinical application of Bo Bs in prenatal diagnosis with karyotype analysis could detect chromosomal abnormalities and 9 cases of chromosome microdeletion,the union has high clinical value.更多还原