452例胎儿结构畸形分析及胎儿结构畸形资源库的建立  

Analysis of 452 structural abnormalities fetus and establishment of genetic resource of fetal structural abnormalities

作　　者：李红艳[1] 梁少霞[1] 赵婧[1] 郑国兵[1] 董兴盛[1] 陈咏莲[1] 陈敬林[1] 黄湘[1] 

机构地区：[1]中山市博爱医院,广东中山528400

出　　处：《中国优生与遗传杂志》2015年第8期95-97,共3页Chinese Journal of Birth Health & Heredity

基　　金：中山市卫生局资助项目(2014A020415)

摘　　要：目的分析超声诊断胎儿结构畸形与胎儿染色体异常的相关关系,以及建立胎儿结构畸形资源库。方法回顾性分析了我院因产前超声诊断胎儿结构畸形而自愿行介入性产前诊断的452例孕妇的产前超声筛查资料及胎儿染色体核型资料,并收集常规染色体检查未检查出异常的结构畸形胎儿的标本和临床资料建立胎儿结构畸形资源库。结果 452例结构畸形胎儿中,单系统结构畸形399例,占88.27%,多系统畸形53例,占11.73%;染色体异常胎儿48例,异常率为10.62%,其中常染色体三体征36例,占异常核型的75%。目前收集了常规染色体检查未检查出异常的结构畸形胎儿的标本30例。结论胎儿结构畸形与染色体异常有着一定的关联性,产前检查中发现胎儿结构畸形,建议孕妇进行产前咨询和必要的介入性产前诊断。但是仍然有部分结构畸形胎儿未查出染色体异常,为进一步明确结构畸形发生的原因,需收集其标本建立样本库进行后续深入分析。Objective：To analyze the relationship between fetal structural abnormalities and chromosomal abnormalities,this report established a genetic resource of fetal structural abnormalities. Methods：Our research retrospectively analyzed the data from ultrasound examination and fetal chromosomal karyotypes of 452 pregnancy women,those women were diagnosed fetal structural abnormalities during prenatal ultrasound examination then the invasive prenatal diagnosis were performed. Collected the sample of structural abnormalities fetus which the karyotypes and other clinical data were normal to establish the genetic resource of fetal structural abnormalities. Results：Among 452 cases with fetal structural abnormalities,399 cases were with single abnormality（88.27%）and 53 cases were with multiple malformations（11.73%）;48 cases were with chromosomal abnormalities（10.62%）,of which the autosomal trisomies were 36 cases（75%）. 30 samples of structural abnormalities fetus which the karyotypes were normal were collected. Conclusion：Fetal structural abnormalities showed partly relationship with chromosomal abnormalities. When fetal structural abnormalities were found in prenatal ultrasound examination,it was suggested that the prenatal consultation or invasive prenatal diagnosis should be given to patients. Admittedly,the karyotypes were normal in part of structural abnormalities fetus,to further clarify the causes of fetal structural abnormalities,we should establish genetic resource of fetal structural abnormalities.

关 键 词：胎儿结构畸形 染色体异常 遗传资源库 

分 类 号：R714.5[医药卫生—妇产科学]