Li Ying, Gong Yafei, Liu Hanyan, Song Yanqin, He Wenyin, Wei Jun, Sun Xiaofang, Chen Xinjie
Key Laboratory for Reproductive Medicine of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Center for Reproduction Medicine, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):348-52. doi: 10.3760/cma.j.issn.1003-9406.2015.03.010.
To assess the value of array-based comparative genomic hybridization (array-CGH) for analyzing tissues derived from spontaneous abortion and stillbirth.
Agilent Human Genome CGH Microarray 4×44 K chip and Affymetrix Cytoscan 750 K Array were utilized to detect genome-wide copy number variations (CNV) in 43 fetuses with spontaneous abortion and stillbirth. All identified CNV were analyzed with references from Database of Genomic variants (DGV), database of DECIPHER, ISCA and OMIM, as well as comprehensive literature review to determine whether the identified CNVs were pathogenic. Parental DNA of two cases was also analyzed with the same arrays for pathogenic or unknown significant CNVs.
All of the 43 specimens were successfully analyzed. Clinically significant chromosomal aberrations were identified in 32 (74.4%) of the samples, which included 26 aneuploidies and 10 pathogenic CNV.
Array-CGH is a fast and effective method for analyzing tissues derived from spontaneous abortions and stillbirths which may be difficult to culture for karyotype analysis.
评估基于芯片的比较基因组杂交技术（array-CGH）在分析自然流产和死产组织中的价值。
采用安捷伦人类基因组CGH微阵列4×44 K芯片和Affymetrix Cytoscan 750 K Array检测43例自然流产和死产胎儿的全基因组拷贝数变异（CNV）。所有鉴定出的CNV均参考基因组变异数据库（DGV）、DECIPHER数据库、ISCA和OMIM进行分析，并进行全面的文献综述，以确定鉴定出的CNV是否致病。还使用相同的阵列分析了两例病例的父母DNA，以检测致病或未知的显著CNV。
43个样本均成功分析。在32个（74.4%）样本中鉴定出具有临床意义的染色体畸变，其中包括26个非整倍体和10个致病CNV。
Array-CGH是一种快速有效的方法，可用于分析自然流产和死产组织，这些组织可能难以培养用于核型分析。
