2121例遗传咨询者外周血染色体核型分析

Peripheral blood chromosome karyotype analysis in 2121 cases of genetic counseling

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： Analyze the type and incidence rate of chromosomal aberration in cases of genetic counseling and explore the application value of cytogenetic examination in clinical diagnosis. Methods： Peripheral blood specimens obtained from cases were cultured for chromosome karyotype analysis. Results： Among 2121 cases of genetic counseling, 1278 cases had the history of abnormal pregnancy; 568 cases were with aspermia, asthenospermia or oligospermia; 119 cases were infertile; 46 cases suffered from sexual abnormality; 48 cases had amenorrhea or irregular menstruation; 62 cases received health counseling before pregnancy. 141 cases were found with abnormal chromosome karyotype, and the incidence rate of chromosomal aberration was 6. 65%. Conclusion： Abnormal fertility is the most common cause of genetic counseling, and the result of karyotype analysis is the important reference for clinical diagnosis and prepotency.