核型BAC-on-Beads^(TM)技术检测早期自然流产胚胎染色体异常的价值  

Application of KaryoLite BAC-on-BeadsTM technique for detecting chromosomal abnormalities of early spontaneous abortion

作　　者：曹懿 杨爱华 苏燕 陈蔚 郁明霞 徐军[1] CAO Yi;YANG Aihua;SU Yan;CHEN Wei;YU Mingxia;XU Jun(Department of Obstetrics and Gynecology , Minhang Hospital , Zhongshan Hospital , Fudan University, Shanghai 201100, China)

机构地区：[1]复旦大学附属中山医院闵行分院妇产科,上海201100

出　　处：《上海医学》2018年第3期150-154,共5页Shanghai Medical Journal

摘　　要：目的应用细胞染色体G显带核型分析和核型BAC-on-Beads^(TM)(BoBs^(TM))技术检测早期自然流产胚胎染色体结构和数目异常,探讨核型BoBs^(TM)技术用于诊断绒毛细胞染色体异常的临床价值。方法采用核型BoBs^(TM)技术对复旦大学附属中山医院闵行分院202例孕6～13周的自然流产胚胎的绒毛组织进行染色体快速检测,并采用经典的细胞染色体G显带核型分析进行常规细胞染色体核型分析。结果 202例绒毛标本,采用核型BoBs^(TM)技术均获得诊断结果,其中结果异常97例,正常105例。在97例异常样本中,发现15号、16号、19号、21号、22号染色体和性染色体(主要是45,XO)的异常类型明显高于其他染色体异常,未发现1号染色体异常。在202例样本中,采用细胞染色体G显带核型分析仅122例获得结果(其中结果异常56例),绒毛培养失败80例。核型BoBs^(TM)技术的检测成功率为100%(202/202),显著高于细胞染色体G显带核型分析的60%(122/202,P<0.01);核型BoBs^(TM)技术的结果异常率为48%(97/202),与细胞染色体G显带核型分析的46%(56/122)的差异无统计学意义(P>0.05)。在采用G显带核型分析获得染色体核型报告的122例中,仅1例核型为46,XX,der(5)t(5;10)(q31;q21)的标本未被核型BoBs^(TM)技术检出,余121例经两种技术的检测结果完全一致。结论早期流产的主要原因是染色体数目异常,核型BoBs^(TM)技术是检测绒毛细胞染色体数目异常的可选方法之一。Objective To apply karyotype analysis and BAC-on-BeadsTM （BoBsTM） to detect the chromosomal number and structure abnormalities of early spontaneous abortion chorionic villus, and to explore the clinical value of KaryoLite BoBsTM technique in detecting chromosomal abnormalities of early spontaneous abortion. Methods The KaryoLite BoBsTM technique was used to detect 202 cases of chorionic villi of spontaneous abortion embryos within 6- 13 weeks in the Central Hospital of Minhang District, Shanghai. Meanwhile, karyotype analysis of the classical G banding technique was used. Results All the 202 cases of villous specimens were diagnosed by karyotype BoBsTM technique, of which 97 cases were abnormal and 105 cases were normal. In the 97 abnormal samples, chr 15, chr 16, chr 19, chr 21, chr 22 and monosomy X （mainly 45, XO） were found to be significantly higher than other chromosomal abnormalities, but no chr 1 was found. Only 122 cases were diagnosed by karyotype analysis, of which 56 cases were abnormal and 80 failed in villous culture. The success detection rate of BoBsTM was 100% （202/202）, which was significantly higher than karyotype analysis （60%, 122/202, P〈 0.01）. The abnormal rate of BoBsTM technology and karyotype analysis was 48% （97/202） and 46% （56/122）, and no significant difference was found between them （P〉0.05）. In 122 cases of karyotype analysis, only 1 case （46 karyotype, XX, der [5] t [5, 10][Q31, q21]） was not detected by BoBsTM. The remaining 121 cases had completely consistent result of two techniques. Conclusion The numerical abnormality of chromosomes is the main cause of early spontaneous abortion. The KaryoLite BoBsTM technique is a diagnostic tool to detect the numerical abnormality of chromosomes of early spontaneous abortion chorionic villus.

关 键 词：流产 自然 核型分析 染色体畸变 核型BAC-on-Beads^TM G显带 

分 类 号：R714.21[医药卫生—妇产科学]