[对自然流产标本的两种不同基因分析]

[Two different genetic analyses of spontaneously aborted specimen].

作者信息

Hu Ya-li, Chen Xue, Chen Lei-lei, Zhu Rui-fang, Xu Zheng-feng, Wang Zhi-qun, Zhu Xiang-hong, Liu Xiao

机构信息

Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2006 Mar;41(3):148-51.

PMID:16640875

Abstract

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 karyotyping, 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.

摘要

目的

探讨比较基因组杂交（CGH）用于分析自然流产组织的可行性。

方法

本研究招募了38例自然流产患者。根据超声扫描，这些病例的孕周在49至91天之间。所有绒毛膜绒毛标本均经宫颈采集。采用常规细胞遗传学核型分析和CGH分析来检测组织标本中的染色体不平衡异常。

结果

38例患者的CGH分析均成功，但7例细胞遗传学核型分析失败。90%（28/31）的病例在CGH和常规细胞遗传学分析中得到了相同的结果。细胞遗传学结果与CGH结果有3例存在差异。1例核型分析显示为46XY核型，而CGH分析显示染色体3q(22)-q(24)畸变。2例核型分析显示为三倍体，但CGH分析正常。在细胞遗传学分析失败的7例中，有3例在CGH分析中显示非整倍体。