1055对不良孕产史夫妇细胞遗传学分析

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目的:对有不良孕产史夫妇的染色体核型进行分析,探讨不良妊娠结局与染色体异常之间的关系。方法:采集1 055对有不良孕产史夫妇的静脉血,经淋巴细胞培养、常规收获中期核分裂像,低渗、固定、制片、Giemsa染色后在显微镜下进行核型分析。结果:在1 055对2 110例患者中检出异常核型87例,异常率为4.32%。染色体数目异常4例,异常率为0.19%;结构异常33例,异常率为1.54%,其中平衡易位25例、罗伯逊易位8例;染色体多态性变异50例,变异率为2.59%。结论:染色体异常是导致不良妊娠结局的重要原因,有不良孕产史的夫妇应进行细胞遗传学检查,染色体核型异常的夫妇再次妊娠后应进行遗传咨询及产前诊断以降低染色体异常患儿出生率。 Objective: To analyze the relationship between chromosomal karyotypes of couples with bad pregnancy history and unfavorable pregnancy outcomes and chromosomal abnormalities. Methods: A total of 1 055 venous blood samples from couples with adverse pregnancy history were collected. Lymphocytes were cultured and routinely harvested for metaphase mitosis, hypotonic, fixed, and Giemsa staining for karyotype analysis under a microscope. Results: 87 out of 1105 patients were detected in 2101 patients, the abnormality rate was 4.32%. The number of chromosome abnormalities was in 4 cases, the abnormal rate was 0.19%. 33 cases were abnormal in structure, with an abnormal rate of 1.54%. Among them, 25 were balanced and Robertson was translocated. Chromosome polymorphism was 50 cases with variability of 2.59%. Conclusion: Chromosomal abnormalities are the important reasons leading to adverse pregnancy outcomes. Couples with poor history of pregnancy and childbirth should be examined by cytogenetics. The couple with abnormal karyotype should undergo genetic counseling and prenatal diagnosis to reduce the incidence of chromosomal abnormalities Birth rate.
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