目的：探讨产前诊断中非平衡易位胎儿的产前指征分布、临床特征及妊娠结局，为孕中期孕妇妊娠选择提供科学依据。方法：对2011年5月至2016年3月，在我院行羊水染色体核型分析并诊断为非平衡相互易位胎儿进行回顾研究分析。结果：35例非平衡相互易位胎儿中，29例（82．86％，29／35）具有胎儿超声异常特征，6例（17．14％，6／35）未检出胎儿超声异常。35例中，8例为新发突变易位，27例为父母系遗传易位，主要产前指征为超声异常17例、夫妇易位携带者8例、不良生育史5例、唐氏筛查高风险3例及高龄2例，其中2例易位携带者夫妇连续两次孕相同非平衡易位核型胎儿。35例均选择了终止妊娠。结论：孕中期产前诊断中超声异常指征与非平衡易位紧密相关，异常的易位核型通常来源于双亲之一平衡易位携带者。非平衡易位胎儿涉及大片段基因增加或丢失，易导致胎儿多发畸形，通常需及时终止妊娠。%Objective To explore the distribution of prenatal indications , clinical features and pregnant outcomes of chromosomal unbalanced reciprocal translocations atthe second trimester. Methods The data on 35 fetuses with unbalanced reciprocal translocations between May 2011 and March 2016 were retrospectively analyzed and reviewed. Results Of 35 fetuses with unbalanced translocations , 29 (82.86%) showed ultrasound abnormalities,and 6 (17.14%) had no significant clinical features. 8 were de novo, and the other 27 were parental inherited. All the 35 women had to terminate the pregnancy. Conclusions Ultrasound abnormalities are associated with chromosomal unbalanced reciprocal translocations at the second trimester , and most unbalanced translocations fetuses origin from parental carrier of balanced translocations.
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