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目的探讨细菌人工染色体微珠(BACs-on-Beads,Bo Bs)技术在产前诊断中的应用价值。方法对379例接受侵入性产前诊断的孕妇羊水样本行产前Bo Bs检测和羊水细胞染色体核型分析。结果 379例样本共检出24例异常样本,异常率为6.3%(24/379),其中15例染色体数目异常样本为两种技术共同检出,5例染色体微缺失/微重复样本为Bo Bs技术单独检出,另4例染色体结构异常样本为核型分析单独检出。结论 Bo Bs技术能快速,准确地检测出目标染色体非整倍体以及微缺失/微重复,Bo Bs检测联合染色体核型分析有利于提高染色体异常检出率,具有较高的临床应用价值。
Objective To investigate the value of BACs-on-Beads (Bo Bs) in prenatal diagnosis. Methods 379 pregnant women receiving invasive prenatal diagnosis of amniotic fluid samples prenatal Bo Bs detection and amniotic fluid cell karyotype analysis. Results A total of 24 abnormal samples were detected in 379 samples, with an abnormality rate of 6.3% (24/379). Among them, 15 samples with abnormal chromosome number were detected by two techniques and 5 samples with micro-missing / microdissected samples were Bo Bs Technology alone was detected, and the other 4 cases of chromosomal abnormalities were detected separately karyotype analysis. Conclusion Bo Bs technique can detect aneuploidy and microdeletions of target chromosomes quickly and accurately. Bo Bs combined with karyotype analysis of chromosomes is helpful to improve the detection rate of chromosomal abnormalities and has high clinical value.