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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
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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.
作者 韩建成 杨喜惠 郝晓艳 王欣 孙海瑞 刘晓伟 孙琳 谷孝艳 张烨 赵映 陈倬 郭勇 籍雪晶 何怡华 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)
出处 《中华超声影像学杂志》 CSCD 北大核心 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).
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 Echocardiography Heart septal defect, ventricular Pulmonary atresia Prenatal diagnosis Chromosomal aberrations
作者简介 通信作者:何怡华,Email:yihuaheecho@163.com.
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