104例18三体综合征产前诊断临床分析  

Clinical analysis of prenatal diagnosis of trosimy 18 in 140 patients

作　　者：李东明[1] 蒙达华[1] 胡雪桦[1] 黄战[1] 郑陈光[1] 

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2015年第5期45-46,共2页Chinese Journal of Birth Health & Heredity

基　　金：广西自然科学基金(0832182)

摘　　要：目的了解本地区18三体综合征(Edwards syndrome,ES)妊娠临床特点。方法对2003年1月至2014年6月在本院筛查和诊断的ES妊娠临床资料进行回顾性分析。结果 104例ES妊娠在孕早、中及晚孕期确诊ES分别占11.54%、69.23%和19.23%,高龄妊娠和适龄妊娠分别占29.81%和70.19%,主要产前诊断指征为超声异常占56.70%。确诊的ES妊娠均有超声异常发现,以心脏畸形为主占72.12%。结论本地区ES妊娠主要在妊娠中晚期确诊,常规筛查方案能有效控制ES患儿出生。Objective： To investigate the clinic characteristics of pregnancy with Edwards syndrome （ES） . Methods： the data of pregnancy with ES were analyzed During January 2003 to June 2014. Results： Pregnancy were diagnosed as ES during the first, second and third trimester of pregnancy, and the rate of that were 11.54%, 69.23% and 19.23% respectively. There were 29.81% pregnancy in elderly mothers （〈35 yr） compared to 70.19% in younger mothers （〉35 yr） . Abnormal ultrasound finding was main indications for prenatal diagnosis, all of the affected pregnancies were referred for the indication of abnormal ultrasound findings, and cardiac malformations was 72.12%. Conclusion： Pregnancy were diagnosed as ES in the second and third trimester mainly. The routine screening scheme for ES can effectively control the birth of children with ES.

关 键 词：爱德华综合征 筛查 诊断 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]