标题：中期孕妇胎儿心脏畸形超声心动图表现与染色体异常的相关性

      作者：陈兵勇，尹晓云，陈 婕，黄继才，李景珊
    (顺德桂洲医院B超室，广东 顺德 528305)

      卷次： 2015年26卷17期

      【摘要】 目的 检测中期孕妇胎儿心脏畸形超声心动图与染色体异常变异，探讨其可能存在的关系。
方法 对本院 2012年 3月至 2014年 12月收治的 5 000例中期孕妇进行产前超声与染色体核型检查，综合比较
分析胎儿心脏畸形超声心动图表现和染色体异常的关系。结果 60例心脏畸形胎儿确诊病例中伴染色体异
常者 16例，占 26.67% (16/60)，其中X单体 1例，13-三体 3例，18-三体 7例，21-三体 5例。16例先天性心脏病
(CHD)胎儿中，全部的X单体和13-三体、60%的21-三体以及85.71%的18-三体患儿均伴有不同程度的心外器官
的畸形。结论 胎儿心脏结构畸形与染色体异常关系密切，产前超声筛查发现心脏畸形时应仔细检查胎儿是否
合并心外系统畸形，并结合临床筛查指标建议行染色体检查。

      【关键词】 中期孕妇；心脏畸形；超声心动图；染色体异常；相关性

      【中图分类号】 R714.43+1 【文献标识码】 A 【文章编号】 1003—6350（2015）17—2546—03


Correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in
mid-pregnancy.
CHEN Bing-yong, YIN Xiao-yun, CHEN Jie, HUANG Ji-cai, LI Jing-shan. B Ultrasonic Room,
Shunde Guizhou Hospital, Shunde 528305, Guangdong, CHINA

【Abstract】 Objective To explore the correlation between fetal cardiac malformations echocardiography and
chromosomal abnormalities in mid-pregnancy. Methods A total of 5 000 cases of women in mid-pregnancy in our
hospital from March 2012 to December 2014 who received prenatal ultrasound and karyotype examination were in-
cluded in the study. And correlation between fetal cardiac malformations echocardiography and chromosomal abnor-
malities was analyzed. Results In 60 fetal cardiac malformation cases, there were 16 chromosomal abnormalities cas-
es which accounting for 26.67% (16/60), including 1 case of X monomer, 3 cases of trisomy 13, 7 cases of trisomy 18,
and 5 cases of trisomy 21. While in 16 fetal congenital heart disease (CHD) cases, all X monomer and trisomy 13 cas-
es, 60% of trisomy 21 cases and 85.71% of trisomy 18 cases were found with varying degrees of extracardiac malfor-
mations. Conclusion Fetal cardiac malformations are closely related with chromosomal abnormalities. Therefore
malformations should be carefully considered if fetal cardiac malformations were found in ultrasound screening, and a
chromosome examination would be clinically recommended.

      【Key words】 Women in mid-pregnancy; Cardiac malformation; Echocardiography; Chromosome abnormality;
Correlation