胎儿先天性心脏病与染色体及22q11微缺失异常的临床研究  

Clinical research of fetal congenital heart disease associated with chromosome abnormalities and chromosomal 22q11 microdeletion

作　　者：闫亚妮[1] 吴青青[1] 姚苓[1] 王欣[2] 山丹[2] 安园园[1] 高凤云[1] 

机构地区：[1]首都医科大学附属北京妇产医院,超声科北京100026 [2]首都医科大学附属北京妇产医院,产科北京100026

出　　处：《西安交通大学学报（医学版）》2014年第2期249-253,共5页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：国家自然科学基金资助项目(No.81071159);首都临床特色应用研究项目(No.D101100050010039)~~

摘　　要：目的 通过分析超声检查出的胎儿先天性心脏病（congenital heart disease,CHD）患者的染色体及微缺失异常情况,探讨胎儿CHD的发病原因.方法选择2011年1月至2012年12月在我院超声科行常规检查（孕18～28周）的孕妇26042例[年龄20～45（31.51±4.05）岁,孕（23.65±4.32）周]发现胎儿心脏结构异常者,行超声心动图诊断及染色体检查,终止妊娠者行病理检查.结果 近2年本院胎儿超声心动图检查提示CHD 416例,引产后尸解证实的82例,均行染色体检查,发现18例染色体异常,其中18-三体8例,21-三体4例,13-三体2例,45X 1例,三倍体1例,46 XXY 1例,46 XYY 1例.64例染色体正常者,其中31例行荧光原位杂交技术（FISH）检测,3例存在22q11.2微缺失综合征.结论 胎儿CHD与染色体及微缺失有关,若超声检查发现胎儿CHD时,应进行染色体常规核型分析及FISH法微缺失检测,以降低出生缺陷,避免染色体异常综合征患儿的出现.Objective To investigate the association between congenital heart disease （CHD） and chromosome abnormalities by routine prenatal ultrasound and echocardiography screening to explore the etiology of fetal CHD. Methods Patients with fetal CHD who underwent chromosome examinations from January 2011 to December 2012 in the Center of Prenatal Diagnosis of Beijing Obstetrics and Gynecology Hospital, Capital Medical University, were recruited in this study. Totally 26 042 pregnant women underwent routine ultrasound examinations in the second trimester. Their mean age was （31.51 4-4.05） years and the mean pregnancy period was （23.65 ! 4.32） weeks. The fetuses with CHD diagnosed by ultrasonic cardiography further underwent chromosome examination. Then the association between chromosome karyotypes and types of CHD was analyzed. Results Ultrasonic cardiography indicated that there were 416 fetuses with CHD in this study. In our follow-up, there were 82 aborted fetuses with CHD identified by gross anatomy, and all of them had chromosome examination. The indications for chromosome abnormalities were 18 cases, including trisomy 18 in 8 cases, trisomy 21 in 4 cases, trisomy 13 in 2 cases, sex chromosomal abnormalities in 3 cases, and triploid in 1 case. Thirty-one out of 64 cases with normal karyotype underwent FISH detection, and 22q11. 2 microdeletion syndrome was found in 3 cases. Conclusion CHD is associated with chromosome abnormalities and microdeletion. Prenatal chromosome conventional karyotype and FISH examinations should be detected when the fetus is diagnosed with CHD by echocardiography screening so as to reduce birth defects and minimize chromosomal abnormality syndrome.

关 键 词：先天性心脏病 胎儿 染色体核型 荧光原位杂交法 产前诊断 超声检查 

分 类 号：R714.53[医药卫生—妇产科学]