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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3q22-q24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 investigate the accuracy of comparative genomic hybridization (CGH) technique and chromosomal karyotype analysis of villus cell culture for histological diagnosis of spontaneous abortion. Methods Thirty-eight cases of spontaneous abortion were selected from 49 to 91 days of gestation. Cervical vaginosis was performed under sterile conditions. Among them, 27 were fresh tissue samples which were inevitable abortion, and 11 were obsolete abortion samples. Each tissue samples were analyzed by chromosome karyotype analysis of chorionic villi cells, and at the same time the whole genome was analyzed by CGH technique. Results The diagnostic success rate of CGH was 100% (38/38), while the chromosomal karyotype analysis of villus cells showed a success rate of 82% (31/38). The diagnostic accuracy of the two methods was 90% (28/31). Of the three cases with different diagnostic findings, one chorionic karyotype analysis of chorionic villi cells showed normal karyotypes, whereas the CGH technique showed the deletion of 3q22-q24 ; The other 2 cases of chorionic villi cultured chromosome karyotype analysis of the triploid, but the diagnosis of CGH technology showed normal. Of the 7 patients who had failed to culture villous cells but had CGH alone, 3 were aneuploidy and the other 4 were normal. Conclusion CGH technique is feasible for the diagnosis of spontaneous abortion. Chromosome karyotype analysis of chorionic villi cells shows that CGH has a high diagnostic success rate and is highly sensitive to the diagnosis of unbalanced chromosomal rearrangements and can be used as a complementary method for karyotype analysis of chorionic villi cells.