细菌人工染色体微珠技术在产前诊断中的应用  

Application of BACs-on-Beads for prenatal diagnosis of chromosome abnormalities

作　　者：怀磊[1] 冷建杭[1] 孙博[1] 郭钦贤[1] 张玲云[2] 朱惠青[2] 王志华[2] 翟洪波[2] 

机构地区：[1]杭州市第一人民医院中心实验室 [2]杭州市第一人民医院妇产科,浙江杭州310006

出　　处：《中国优生与遗传杂志》2017年第8期68-70,共3页Chinese Journal of Birth Health & Heredity

基　　金：浙江省自然科学基金(LQ17H310001);杭州市科技发展计划(20140633B05);南京医科大学科技发展基金(2013NJMU231)

摘　　要：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：The objective of the study was to evaluate the clinical value of prenatal bacterial artificial chromosomeson-Beads（BACs-on-Beads,Bo Bs）in prenatal diagnosis. Methods：379 amniotic fluid samples of pregnant women who receiving amniocentesis were detected with Bo Bs and karyotyping. Results：24 amniotic fluid samples with chromosome abnormality were successfully detected by Bo Bs or karyotyping,including 15 specimens with chromosome aneupoidies detected both by Bo Bs and karyotyping,5 specimens with chromosome microdeletion/microduplication detected by Bo Bs alone,4specimens with chromosomal structural abnormalities detected by karyotyping alone. The positive rate of chromosomal abnormalities was 6.3%（24/379）. Conclusion：Bo Bs is a rapid and effective prenatal diagnosis technology in detecting chromosomes aneuploidies and microdeletion/microduplication syndromes. Combined use of traditional karyotyping and Bo Bs may increase the discovery rate of chromosomal diseases that will be widely applied for clinical diagnosis.

关 键 词：细菌人工染色体微珠 染色体 微缺失 微重复 产前诊断 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]