目的通过对妊娠中期孕妇羊水染色体结构异常产前诊断指征分布、发病率及妊娠结局的分析,探讨妊娠中期胎儿染色体结构异常的妊娠结局。方法对2011年2月至2015年3月2 562例羊水染色体检查中76例染色体结构异常孕妇的临床资料进行回顾性分析。结果 2 562例羊水标本中,检出76例(2.97%)染色体结构异常,其中染色体倒位29例,相互易位25例,不平衡易位11例,复杂重排5例,其他结构异常6例。76例患者中,55例患者选择继续妊娠,其中29例染色体倒位,23例相互易位,3例复杂重排;21例患者选择终止妊娠,其中染色体不平衡易位11例,复杂重排2例,其他结构异常6例,X与常染色体新发突变易位1例,遗传型易位伴Turner综合征1例。结论产前诊断中羊水染色体结构异常主要为染色体倒位、相互易位、不平衡易位及复杂重排。绝大部分相互易位及倒位的结构异常可以选择继续妊娠。不平衡易位及复杂重排由于涉及基因片段的增加或丢失,大部份选择终止妊娠。 Objective To analyze the distribution, incidence and pregnancy outcome of prenatal diagnosis of amniotic fluid chromosomal abnormalities in the third trimester of pregnancy, and to explore the pregnancy outcome of chromosomal abnormalities in the second trimester of pregnancy. Methods A retrospective analysis was performed on the clinical data of 76 cases of chromosomal abnormalities among 2 562 cases of amniotic fluid chromosome examination from February 2011 to March 2015. Results Among 2 562 cases of amniotic fluid samples, 76 (2.97%) chromosomal abnormalities were detected, of which 29 were inversed, 25 were reciprocally translocated, 11 were unbalanced, 5 were complex rearrangements, and 6 were other structural abnormalities example. Among the 76 patients, 55 patients chose to continue with pregnancy, of which 29 were inversed, 23 were translocated to each other and 3 were complex rearranged. Twenty-one patients chose termination of pregnancy with 11 cases of unbalanced chromosomal translocation and complex rearrangement 2 cases, other structural abnormalities in 6 cases, X and autosomal mutation in 1 case, genetic translocation with Turner syndrome in 1 case. Conclusions The amniotic fluid chromosome abnormalities in prenatal diagnosis are mainly chromosome inversion, mutual translocation, unbalanced translocation and complicated rearrangement. Most of the mutual translocation and inverted structure abnormalities can choose to continue pregnancy. Unbalanced translocation and complex rearrangements involve the increase or loss of gene fragments, the majority choose to terminate the pregnancy.