基因芯片技术在复发性流产遗传学诊断中的应用

Application of gene array chip in diagnosis of cytogenetics of recurrent spontaneous abortion

目的 探讨基因芯片单核苷酸多态性阵列（SNP-array）技术在复发性流产遗传学诊断中的应用价值.方法 选择2012年1-10月在浙江省湖州市妇幼保健院产前诊断中心就诊的、曾有自然流产≥2次、本次妊娠又发生自然流产的患者26例（RSA组）,对流产物分别应用绒毛染色体核型分析技术和SNP-array技术进行分析；同时选取20例早孕期人工流产妇女作为对照组.结果 绒毛染色体核型分析获得结果19例,检测成功率为73％ （19/26）,发现染色体异常10例,异常检出率为10/19；SNP-array技术检测获得结果26例,检测成功率为100％,发现全基因组拷贝数异常15例,异常检出率为58％ （15/26）.对照组胚胎绒毛染色体核型分析获得结果16例,检测成功率为16/20,均未发现染色体核型异常；SNP-array技术检测获得结果20例,检测成功率为20/20,均未发现全基因组拷贝数异常.结论 SNP-array技术具有分辨率高、准确性好等优点,是自然流产特别是复发性流产遗传学诊断的有力工具.

Objective To investigate clinical value of single nucleotide polymorphism array （SNParray） gene chip technique in diagnosis of genetics of recurrent spontaneous abortion （RSA）.Methods From January to October 2012,the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study（RSA group）.Meanwhile 20 cases with induced abortion were taken as control group.All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array,respectively.Results Chorionic villus chromosomal examination was successfully done in 19 cases （73%,19/26）,which 10 cases were found with chromosomal anomaly,the overall detection rate is 10/19.However,SNP-array analysis was successfully performed in all 26 cases.The overall rate of detection was 100%,and abnormalities were found in 15 cases,which reached the detection rate was 58% （15/26）.Chorionic villus chromosomal examination was successfully done in 16 cases （16/20） in control group,and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases （20/20）,and none was found abnormalities.Conclusion SNP-array gene chip technique showed highly accurate feature,which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.