染色体倒位对妊娠结局遗传效应的回顾性研究.docVIP

染色体倒位对妊娠结局遗传效应的回顾性研究 李 娟，谢建生，罗福薇，耿 茜，张华坤，陈武斌，李 芳，刘 红（518048 广东深圳，深圳市妇幼保健院产前诊断中心） [摘要]目的 探讨染色体倒位对妊娠结局的遗传效应。方法 对2009年1月至2011年2月因不良妊娠生育史在本院妇科门诊及优生门诊遗传咨询的3 610例就诊者取外周血培养进行染色体G显带分析。结果 3 610例中发现76例染色体倒位患者共14种倒位类型，其中44例本人或配偶有自然流产史，流产1次10例，流产2次26例，流产3次8例,不孕不育2例，死胎畸胎4例，精液异常5例。结论 染色体倒位可能会导致自然流产、不孕不育、畸胎等不良妊娠结局；必要的产前诊断可防止染色体病患儿出生。 [关键词] 染色体倒位；自然流产；先天畸形；染色体核型 [中图法分类号] [文献标志码] A Genetic effect of chromosomal inversion to pregnancy: a retrospective study Li Juan, Xie Jiansheng, Luo Fuwei, Geng Qian, Zhang Huakun, Chen Wubin, Li Fang, Liu Hong（Center of Prenatal Diagnosis, Maternal and Child Care Hospital of Shenzhen Shenzhen, Guangdong Province, 518048, China） [Abstract] Objective To investigate the genetic effect of chromosome inversion on pregnancy outcome. Methods A total of 3 610 cases with history of abnormal pregnancy who were outpatients or consultants in our center were enrolled. Their peripheral blood samples were collected and cultured for G-band karyotyping. The results were studied with clinical data. Results There were 76 cases found with chromosome inversion in the 3 610 cases, including 14 different types of inversion. Among the 76 cases, 44 individuals themselves or their spouses had history of miscarriage (10 cases with 1 miscarriage, 24 cases with 2 miscarriages and 8 cases with 3 miscarriages). At the same time there were two cases of infertility, 4 cases of stillbirth or abnormity and 5 cases with abnormal sperm. Conclusion Chromosomal inversions may result in miscarriage, stillbirth and congenital malformation. Prenatal diagnosis to the carriers of inversion is of very important value. 【Key words】chromosomal inversion; spontaneous abortion; congenital malformation; karyotype Corresponding author: Xie Jiansheng, E-mail：jianshengxie2000@ [通信作者]谢建生，E-mail： jianshengxie2000@ 染色体结构异常包括缺失、重复、倒位、平衡易位等，常采用染色体核型分析、荧光原位杂交技术、多重连接探针扩增技术、微阵列比较基因组杂交技术等方法研究。缺失、重复、平衡易位对患者及其下代的影响显而易见，对于倒位的影响说法不一。早期学者认为倒位属于遗传多态性，对患者及下代影响较小，关注甚微，但最近几年的研究[1-2]表明倒位会引起自然流产，不孕不