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目的探讨孕中期羊水染色体罗伯逊易位的产前指征分布、临床特征及妊娠结局,为罗伯逊易位胎儿的妊娠选择提供理论依据。方法对2014年6月至2016年5月,在我院进行羊水染色体核型分析的46例罗伯逊易位病例进行回顾分析。结果 46病例的主要产前指征为夫妇罗伯逊易位携带者17例、不良孕产史13例、唐氏筛查高风险11例及高龄妊娠5例。16例为新发突变,18例为母系遗传,12例为父系遗传。46例病例中除10例罗伯逊易位型21三体、2例罗伯逊易位型13三体、2例罗伯逊易位伴Marker染色体及3例Rob(21;21)选择终止妊娠外,其余29例均选择继续妊娠。结论产前诊断检出的罗伯逊易位胎儿大部份遗传自双亲之一,检出率最高的产前指征为双亲罗伯逊易位携带者。罗伯逊易位型三体综合征胎儿需终止妊娠,伴随Marker片段需借助分子诊断技术进一步明确病因。
Objective To investigate the distribution of prenatal indications, clinical features and pregnancy outcome of the second trimester amniotic fluid Robertsonian translocation in order to provide a theoretical basis for pregnancy selection of Robertsonian translocation fetus. Methods From June 2014 to May 2016, 46 cases of Robertson’s translocation in amniotic fluid karyotype analysis in our hospital were retrospectively analyzed. Results The main prenatal indications of 46 cases were 17 cases of carrier Robertsonian translocation, 13 cases of adverse pregnancy history, 11 cases of Down’s screening risk and 5 cases of advanced pregnancy. 16 cases of new mutations, 18 cases of maternally inherited, 12 cases of paternal inheritance. Among the 46 cases, the remaining 29 cases were selected from 10 cases of Robertson’s trisomy 21, 2 cases of Robertson’s trisomy 13, 2 cases of Robertson’s translocation with Marker chromosome and 3 cases of Rob (21; 21) Choose to continue pregnancy. Conclusion Most prenatal diagnosis of Robertsonian translocation fetus inherited from one of the parents, the highest detection rate of prenatal indications for the Robertson parents amphibious carriers. Robertson’s trisomy syndrome fetus needs termination of pregnancy, along with the Marker fragment needs molecular diagnosis techniques to further clarify the cause.