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目的统计遗传咨询人群中染色体异常的类型和发生概率,研究细胞遗传学检查在临床诊断中的应用价值。方法采取受检者外周血进行培养、常规制片及染色,进行染色体核型分析。结果 2121例的咨询者中包括不良孕产史者1278例,无精或严重少弱精者568例,不孕不育者119例,发育异常或生殖器畸形者46例,闭经及月经不调者48例,孕前健康咨询者62例。共检测出染色体异常核型141例,检出率为6.65%。结论生育异常是遗传咨询的最常见原因,染色体核型分析结果是临床诊断及优生优育的重要参考依据。
Objective To analyze the types and incidence of chromosomal abnormalities in genetic counseling population and to study the value of cytogenetics in clinical diagnosis. Methods The peripheral blood of the subjects was used for culture, routine preparation and staining, and chromosome karyotype analysis. Results The consultants of 2121 cases included 1278 cases of poor pregnancy history, 568 cases of azoospermia or severe oligozoospermia, 119 cases of infertility, 46 cases of dysplasia or genital malformations, amenorrhea and irregular menstruation 48 cases, 62 cases of pre-conception health consultation. A total of 141 cases of chromosomal abnormalities were detected, the detection rate was 6.65%. Conclusion The most common cause of genetic counseling is childbearing abnormality. The result of chromosome karyotype analysis is an important reference for clinical diagnosis and prenatal and postnatal care.