Hu Yali, Chen Xue, Chen Lei Lei, Xu Zheng Feng, Wang XihRu, Cui Hengmi
Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China.
Int J Gynaecol Obstet. 2006 Jan;92(1):52-7. doi: 10.1016/j.ijgo.2005.09.013. Epub 2005 Nov 2.
To evaluate the feasibility and superiority of comparative genomic hybridization (CGH) in the genetic analysis of spontaneously aborted tissues.
38 conceptuses from early failed pregnancies were studied, of which, 27 samples were fresh and 11 were old. Each sample was divided into two parts, one part for conventional cytogenetic analysis and the other for CGH analysis.
All 38 spontaneously aborted tissues were analyzed successfully by the CGH approach, but only 31 samples received results from the cytogenetic karyotype analysis, while 7 other tissues failed to get data due to failure in tissue culturing. Among the specimen successfully analyzed by both approaches, 90% (28 out of 31) obtained identical results, and 14 aneuploidies were found. The only structural chromosome aberration in this series, 46, XY, del(3) (q22-24), was found using the CGH approach, which appeared as a normal male karyotype on the chromosomal metaphase spread. Also, two cases indicated triploidies under cytogenetic analysis but appeared to be normal on the CGH profile. In addition, among the seven samples of tissue culture failure, CGH identified three to be aneuploidies.
The CGH analysis accurately identifies chromosomal unbalanced abnormalities related to spontaneous abortions with low failure rate.
评估比较基因组杂交（CGH）技术在自然流产组织基因分析中的可行性和优越性。
对38例早期妊娠失败的胚胎进行研究，其中27例样本为新鲜样本，11例为陈旧样本。每个样本分为两部分，一部分用于常规细胞遗传学分析，另一部分用于CGH分析。
所有38例自然流产组织均成功采用CGH方法进行分析，但只有31例样本获得了细胞遗传学核型分析结果，另外7例组织因组织培养失败未能获得数据。在两种方法均成功分析的样本中，90%（31例中的28例）获得了相同的结果，共发现14例非整倍体。本研究系列中唯一的结构染色体畸变46, XY, del(3)(q22 - 24)是通过CGH方法发现的，在染色体中期扩展上表现为正常男性核型。此外，有两例在细胞遗传学分析中显示为三倍体，但在CGH图谱上显示正常。另外，在7例组织培养失败的样本中，CGH鉴定出3例为非整倍体。
CGH分析能够准确识别与自然流产相关的染色体不平衡异常，失败率低。
