产前诊断中羊水染色体罗伯逊易位胎儿的细胞遗传学分析  

Prenatal diagnosis of chromosomal Robertsonian translocation

作　　者：罗小金[1] 丛潇怡 黄和明[1] 韦深 卫升市 魏凤香[1] LUO Xiao-jin;CONG Xiao-yi;HUANG He-ming;WEI Shen;WEI Sheng-shi;WEI Feng-xiang(Shenzhen Longgang District Maternity and Child Heath Care Hospital,Shenzhen Guangdong 518172)

机构地区：[1]广东省深圳市龙岗区妇幼保健院,深圳518172

出　　处：《中国优生与遗传杂志》2018年第8期32-33,14,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市龙岗区重点科技计划项目(YLWS20150610155624914)

摘　　要：目的探讨产前诊断中染色体罗伯逊易位的产前指征分布及临床妊娠结局,为孕中期孕妇的正确妊娠提供理论依据。方法对2012年2月至2018年1月,在我院行羊水染色体检查诊断为罗伯逊易位的28例病例进行回顾性分析。结果28病例中8例为新发突变,11例为母系遗传,7例为父系遗传。主要产前指征为夫妇罗伯逊易位携带者10例、不良孕产史8例、唐氏筛查高风险7例及高龄妊娠3例。28例病例中除4例罗伯逊易位型21三体、1例罗伯逊易位型13三体、2例罗伯逊易位伴Marker染色体及1例Rob(21;21)选择终止妊娠外,其余20例均选择继续妊娠。结论胎儿罗伯逊易位系遗传自双亲之一,可选择继续妊娠。如果系新发突变或伴随不明来源Marker片段需借助分子诊断技术进一步明确病因。Objective：To explore the distribution of prenatal indications,clinical symptom and pregnant outcome of chromosomal robertsonian translocation in second trimester by amniocentesis. Methods：Retrospectively analyzed and reviewed the robertsonian translocation fetus of 36 cases from February 2012 to January 2018. Results：The distributions of 28 cases were robertsonian translocation carrier with 10 cases,previous abnormal history with 8 cases,Down screening high risk with 7 cases and advanced maternal age with 3 cases. 8 cases chose to termination due to aneuploidy or marker chromosome,20 cases chose to continue pregnancy. Conclusion：Most of robertsonian translocation inherit from parent,robertsonian translocation carrier was the most frequency indication. Marker chormosme need further molecular technique to specific pathogenesis.

关 键 词：产前诊断 染色体 核型分析 罗伯逊易位 

分 类 号：R714.55[医药卫生—妇产科学]