36例染色体相互易位胎儿的孕中期产前诊断分析  

Analysis of reciprocal translocation at amniocentesis on prenatal diagnosis

作　　者：罗小金[1] 胡亮[1] 裴元元[1] 冉健[1] 魏凤香[1] 

机构地区：[1]深圳市龙岗区妇幼保健院,广东深圳518172

出　　处：《中国优生与遗传杂志》2018年第2期43-45,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市龙岗区科技计划项目(YLWS2015061015 5602039)

摘　　要：目的探讨孕中期羊水染色体相互易位的产前诊断及妊娠结局,为本地区的优生提供科学依据。方法对2011年3月至2017年9月,在我院行孕中期羊水核型分析诊断为染色体相互易位的36例病例进行回顾性研究分析。结果 36例病例的主要产前指征为夫妇易位携带者20例、高龄妊娠8例、唐氏筛查高风险6例、B超结果异常1例、不良孕产史1例。29例易位核型系遗传自双亲之一,7例为新发突变。32例选择继续妊娠,4例选择终止妊娠。结论产前诊断中检出的相互易位胎儿主要系遗传自双亲之一,部分新发突变易位如涉及X与常染色体易位及复杂易位可导致胎儿畸型,需依据B超、FISH及array-CGH进一步检测结果给予准确妊娠指导。Objective：To explore the prenatal indications and pregnant outcome of reciprocal translocation at amniocentesis,provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods：Reviewed and analyzed 36 cases of reciprocal translocation at amniocentesis from 2011 to 2017 at our hospital. Results：The distribution of prenatal indications in total of 36 cases were carriers 20 cases,advanced maternal age 8 cases,abnormal serum screening results 6 cases,previous child with abnormalities one case,abnormal ultrasound findings two cases. 29 cases were inherited,7 cases were de novo. Conclusion：Reciprocal translocation concomitant aneuploidy,de novo X-autosome translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal diagnosis. The results of ultrasound,FISH and array-CGH should provide for de novo simple translocation at amniocentesis.

关 键 词：产前诊断 染色体 核型分析 平衡易位 

分 类 号：R596.1[医药卫生—内科学]