Li Z Y, Liu X Y, Peng P, Chen N, Ou J, Hao N, Zhou J, Bian X M
Department of Obstetric and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Fu Chan Ke Za Zhi. 2018 May 25;53(5):308-312. doi: 10.3760/cma.j.issn.0529-567x.2018.05.005.
To investigate the value of bacterial artificial chromosome-on-beads (BoBs) technology in the genetic analysis of early missed abortion chorionic villi. Early missed abortion chorionic villi were detected with both conventional karyotyping method and BoBs technology in Peking Union Medical Hospital from July 2014 to March 2015. Compared the results of BoBs with conventional karyotyping analysis to evaluate the sensitivity, specificity and accuracy of this new method. (1) A total of 161 samples were tested successfully in the technology of BoBs, 131 samples were tested successfully in the method of conventional karyotyping. (2) All of the cases obtained from BoBs results in (2.7±0.6) days and obtained from conventional karyotyping results in (22.5±1.9) days. There was significant statistical difference between the two groups (123.315, 0.01) . (3) Out of 161 cases tested in BoBs, 85 (52.8%, 85/161) cases had the abnormal chromosomes, including 79 cases chromosome number abnormality, 4 cases were chromosome segment deletion, 2 cases mosaic. Out of 131 cases tested successfully in conventional karyotyping, 79 (60.3%, 79/131) cases had the abnormal chromosomes including 62 cases chromosome number abnormality, 17 cases other chromosome number abnormality, and the rate of chromosome abnormality between two methods was no significant differences (=0.198) . (4) Conventional karyotyping results were served as the gold standard, the accuracy of BoBs for abnormal chromosomes was 82.4% (108/131) , analysed the normal chromosomes (52 cases) and chromosome number abnormality (62 cases) tested in conventional karyotyping, the accuracy of BoBs for chromosome number abnormality was 94.7% (108/114) . BoBs is a rapid reliable and easily operated method to test early missed abortion chorionic villi chromosomal abnormalities.
探讨细菌人工染色体微珠(BoBs)技术在早期稽留流产绒毛组织遗传学分析中的应用价值。2014年7月至2015年3月在北京协和医院采用常规核型分析方法与BoBs技术对早期稽留流产绒毛组织进行检测,比较BoBs技术与常规核型分析结果,评价该新技术的敏感性、特异性及准确性。(1)BoBs技术共成功检测161例样本,常规核型分析方法成功检测131例样本。(2)BoBs技术所有病例报告结果时间为(2.7±0.6)天,常规核型分析方法为(22.5±1.9)天,两组差异有统计学意义(123.315,0.01)。(3)BoBs技术检测161例样本中,85例(52.8%,85/161)染色体异常,其中染色体数目异常79例,染色体片段缺失4例,嵌合体2例;常规核型分析成功检测131例样本中,79例(60.3%,79/131)染色体异常,其中染色体数目异常62例,其他染色体数目异常17例,两种方法染色体异常率差异无统计学意义(=0.198)。(4)以常规核型分析结果为金标准,BoBs技术检测染色体异常的准确性为82.4%(108/131),分析常规核型分析检测的正常染色体(52例)及染色体数目异常(62例),BoBs技术检测染色体数目异常的准确性为94.7%(108/114)。BoBs技术是一种快速、可靠、操作简便的检测早期稽留流产绒毛组织染色体异常的方法。