两种不同遗传学分析方法用于诊断自然流产组织的比较

Two different genetic analyses of spontaneously aborted specimen

目的探讨比较基因组杂交（CGH）技术与绒毛细胞培养染色体核型分析用于自然流产组织遗传学诊断的准确性。方法选择妊娠49—91d的自然流产患者38例，在无菌条件下经宫颈取绒毛，其中难免流产的新鲜组织标本27份，过期流产的陈旧组织标本11份。每份组织标本均采用绒毛细胞培养染色体核型分析，并同时采用CGH技术对全基因组进行分析。结果CGH技术诊断成功率为100％（38／38），而绒毛细胞培养染色体核型分析诊断成功率为82％（31／38）。两种方法的诊断符合率为90％（28／31），在3例出现不同诊断结果的病例中，1例绒毛细胞培养染色体核型分析显示染色体核型正常，而CGH技术显示3q^22_q^24缺失；另2例绒毛细胞培养染色体核型分析为3倍体，但CGH技术诊断结果显示正常。在7例绒毛细胞培养失败而仅有CGH技术诊断结果者中，3例为染色体非整倍体异常，另4例正常。结论CGH技术用于诊断自然流产组织是可行的。绒毛细胞培养染色体核型分析比较，CGH技术诊断成功率高，且对非平衡染色体结构重排的诊断有较高的敏感性，可以作为绒毛细胞培养染色体核型分析的补充方法。

Objective To explore the feasibility of comparative genomic hybridization（CGH） to be used for analysis of spontaneously aborted tissue. Methods Thirty eight patients with spontaneous abortion were recruited in this study. The gestational age of these cases was between 49 and 91 days based on ultrasound scan. All specimens of chorionic villi were collected via the cervix. Conventional cytogenetic karyotyping and CGH analysis were carried out to detect chromosomal unbalanced abnormalities in the tissue specimens. Results CGH analysis was successful in all 38 cases , but cytogenetic karyotying failed in 7 cases. Identical results in both CGH and conventional cytogenetic analysis were obtained in 90% （28/31） cases. Discrepancy in result between cytogenetic and CGH results was shown in 3 cases. One case presented 46XY karyotype by karyutyping, whereas showed chromosome 3q^22-q^24 aberration in CGH analysis. Two cases showed triploidy by karyotyping, but normal in CGH analysis. In the 7 cases that failed in cytogenetic analysis there were 3 cases showing aneuploidy in CGH analysis. Conclusion CGH analysis is feasible to be used for identification of chromosomal unbalanced abnormalities related to spontaneous abortion.