胎儿肺动脉闭锁伴室间隔缺损的超声表现、合并畸形及染色体特征  

Fetal pulmonary atresia with ventricular septal defect: echocardiographic findings, associated anomalies and chromosomal characteristics

作　　者：韩建成[1] 杨喜惠 郝晓艳[1] 王欣 孙海瑞 刘晓伟[1] 孙琳[1] 谷孝艳[1] 张烨[1] 赵映[1] 陈倬[1] 郭勇[1] 籍雪晶 何怡华[1] Han Jiancheng;Yang Xihui;Hao Xiaoyan;Wang Xin;Sun Hairui;Liu Xiaowei;Sun Lin;Gu Xiaoyan;Zhang Ye;Zhao Ying;Chen Zhuo;Guo Yong;Ji Xuejing;He Yihua(Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China;Department of Ultrasound, Maternal and Child Health Hospital of Xinjiang Uyghur Autonomous Region, Urumqi 830000, China)

机构地区：[1]首都医科大学附属北京安贞医院超声心动二部,100029 [2]新疆维吾尔自治区妇幼保健院超声科,乌鲁木齐830000

出　　处：《中华超声影像学杂志》2019年第4期295-300,共6页Chinese Journal of Ultrasonography

基　　金：国家重点研发计划(2018YFC1002300);北京市科学技术委员会资助项目(Z181100001918008);北京市医院管理局临床医学发展专项经费资助(XMLX201604);胎儿心脏病母胎医学北京市重点实验室(BZ0308);心血管疾病精准医学北京实验室(PXM2017_014226_000037).

摘　　要：目的分析胎儿肺动脉闭锁伴室间隔缺损(PA/VSD)的超声表现、合并畸形及遗传学特征。方法回顾分析2012年12月至2018年3月,于安贞医院胎儿心脏病母胎医学会诊中心共检查胎儿心脏的30 526例,其中PA/VSD胎儿59例(0.19%)。分析59例PA/VSD胎儿超声表现、合并畸形及遗传学特征。根据是否存在自身肺动脉和粗大主-肺动脉侧支血管(MAPCAs),将PA/VSD分为A型、B型和C型。结果59例PA/VSD中,五腔心切面均显示室间隔缺损且主动脉平均骑跨率为61.7%。其他超声心动图特征包括:右位主动脉弓19例,动脉导管逆灌40例;胸降主动脉粗大侧支循环24例。PA/VSD类型:A型35例,B型5例,C型19例。合并畸形:永存左侧上腔静脉13例,肺静脉异位引流5例,完全型心内膜垫缺损5例;单脐动脉3例,右侧异构3例。30例进行了遗传学检查,3例患有染色体非整倍体异常,7例患有染色体微缺失。结论PA/VSD超声心动图表现具有特征性,如产前诊断PA/VSD,应明确类型并进行染色体检查,将有助于产前预后咨询。Objective To analyze the echocardiographic findings, associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect (PA/VSD). Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to March 2018 in the consultation center of fetal heart disease in maternal-fetal medicine in Anzhen hospital. Of all the fetuses, 59 cases (0.19%) had PA/VSD. The echocardiographic findings, associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD. Based on whether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries (MAPCAs) or not, the PA-VSD was classified into type A, type B, and type C. Results A large ventricular defect was demonstrated in five-chamber view with 61.7% of the mean ratio of the aortic overriding. Other fetal echocardiographic features of all the 59 fetuses with PA/VSD included: the right aortic arch (n=19), reversal flow in the ductus arteriosus (n=40), MAPCAs (n=24). The classification of the PA/VSD included: type A (n=35), type B (n=5) and type C (n=19). Associated anomalies: persistent left superior vena cava (n=13), anomalous pulmonary vein connection (n=5), complete atrioventricular septal defect (n=5);single umbilical artery (n=3), right atrial isomerism (n=3). Of all the 30 cases performed chromosomal test, 3 cases had aneuploidy and 7 cases had microdeletion of chromosome. Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic. For prenatal diagnosis of PA/VSD, the type of PA/VSD should be defined and chromosomal test should be performed, which can be helpful for prenatal consulting.

关 键 词：超声心动描记术 室间隔缺损 肺动脉闭锁 产前诊断 染色体畸变 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]