产前诊断中染色体非平衡易位胎儿33例临床分析  

Clinical analysis of chromosomal unbalanced reciprocal translocations fetuses at amniocentesis

作　　者：罗小金[1] 郭碧芸 胡亮[1] 冉健[1] 余韬[1] 温丽娟[1] 魏凤香[1] LUO Xiaojin GUO Biyun HU Liang RAN Jian YU Tao WEN Lijuan WEI Fengxiang(Department of Gynecology, Shenzhen Longgang District Maternity and Children Heath Hospital, Shenzhen Guangdong 518172, China)

机构地区：[1]广东省深圳市龙岗区妇幼保健院,518172 [2]江西省吉安桐坪医院

出　　处：《中国妇产科临床杂志》2017年第2期153-155,共3页Chinese Journal of Clinical Obstetrics and Gynecology

摘　　要：目的探讨产前诊断中非平衡相互易位胎儿的产前诊断指征、临床特征及妊娠结局,为孕妇妊娠选择提供遗传学依据。方法对2011年5月至2016年2月行羊水染色体核型分析并诊断为非平衡相互易位的33例患者的临床资料进行回顾性分析。结果 33例非平衡易位患者中,28例(84.8%,28/33)胎儿超声异常,5例(15.1%,5/33)胎儿超声结果未见异常。7例(21.2%,7/33)为新发突变易位,26例(78.8%,26/33)为父母系遗传易位。7例新发突变的主要产前诊断指征为超声异常5例,高龄2例。26例遗传易位中,双亲之一为易位携带者10例,超声异常8例,高龄5例及不良生育史3例,其中10例(38.5%,10/26)产前检查前双亲之一就已知为易位携带者,16例(61.5%,16/26)为产前检查后确诊。33例均选择终止妊娠,其中28例与超声异常特征相符,5例未见明显表型异常特征。结论产前诊断指征中超声异常与非平衡相互易位紧密相关,异常的染色体易位核型大部分来源于双亲之一平衡易位携带者。非平衡易位胎儿由于涉及染色体大片段的丢失或重复,易导致显著的畸形表型特征,通常均需终止妊娠。Objective To explore the distribution of prenatal indications,clinical symptoms and pregnant outcome of chromosomal unbalanced reciprocal translocations in second trimester by amniocentesis,to provide scientific guidelines for pregnant women.Methods Data of 33 cases with unbalanced reciprocal translocations between May 2011 and February 2016 was analyzed retrospectively.Results 28 cases（84.8%,28/33） of the 33 cases were detected with abnormalities by ultrasound,of which 5 cases（15.1%,5/33） without significant clinical symptoms,7 cases were de novo,and 26 cases were parental inherited.All the 33 patients underwent pregnancy termination.Conclusions Ultrasound abnormalities were associated with chromosomal unbalanced reciprocal translocations at second trimester,and most unbalanced translocations fetuses origin from parental carrier of balanced translocations.Unbalanced translocations will cause malformations and pregnant lose due to genetic materials increasedor decreased.

关 键 词：产前诊断 染色体异常 非平衡易位 

分 类 号：R714.5[医药卫生—妇产科学]