胎儿单纯性室间隔缺损自发闭合的产前超声预测参数和遗传相关性研究  

Fetal Simple Ventricular Septal Defect of Spontaneous Closure of Prenatal Ultrasound Prediction Parameters and Genetic Correlation Studies

作　　者：郝秀秀 韩建成[1] 高爽[1] 王欣 李田静 何怡华[1] Hao Xiuxiu;Han Jianchang;Gao shuang;Wang Xin;Li Tianjing;He Yihua(Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,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,北京100029

出　　处：《中国超声医学杂志》2020年第8期715-718,共4页Chinese Journal of Ultrasound in Medicine

基　　金：国家重点研发计划资助及项目编号(No.2018YFC1002300)。

摘　　要：目的探讨单纯性室间隔缺损(i-VSD)产前超声诊断特征及一般临床资料,为患儿的围产期管理预后分析及出生后的干预治疗提供依据。方法搜集我中心行胎儿心脏超声检查孕妇16263例,对239例i-VSD患儿的超声心动图特征、病理解剖分型、遗传学检查及出生后超声随访3~6年,分析i-VSD自然闭合与未闭合比率,总结闭合与未闭合的分型特点,手术时机与产前超声诊断VSD大小与类型之间的关系。结果239例胎儿期超声诊断i-VSD,其中单纯膜部型VSD 16例(6.7%)、膜周型77例(32.2%)、嵴下型4例(1.7%)、嵴内型6例(2.5%)、干下型8例(3.3%)、肌型110例(46%)、混合型18例(7.5%),其中隔瓣下与膜周混合型8例(3.3%)。失访5例(2.1%),随访234例i-VSD彩色多普勒超声显示心室水平可见分流,缺损大小0.8~15 mm,平均(2.8±1.7)mm。234例病例中212例分娩,其中22例(9.4%)胎儿期自发性闭合;190例(81.2%)宫内未发生闭合,出生后超声心动图复查与产前诊断结果一致,其中104例(44.4%)发生自发性闭合(出生即闭合1例,2个月闭合1例,半岁闭合3例,1岁闭合51例,1岁半闭合6例,2岁闭合29例,3岁闭合13例)。生后未闭合86例(36.8%)(未闭合与室间隔缺口大小及分型相关),其中23例选择手术,63例随访至3岁继续观察。234例i-VSD患儿,94例做了唐氏筛查(2例阳性),无创DNA检查均为阴性。结论胎儿期i-VSD以肌部及膜周部最常见,约半数患儿可自然愈合。产前胎儿超声心动图准确分型有助于产前进行预后分析,为无自发性闭合的患儿选择最佳手术时机。Objective To investigate the echocardiographic characteristics and baseline clinical information of patients with isolated ventricular septal defect(i-VSD),and to provide a clinical basis for perinatal management and postnatal surgical intervention.Methods Two-hundred and thirty-nine cases diagnosed with i-VSD were selected in our study.The fetal echocardiographic(FE)results,pathological and anatomic typing,genetic testing results,and postnatal echocardiographic results(within 3-6 years of follow-up after birth)were retrospectively collected and analyzed.In our study,we compared the ratio between spontaneous closure and non-closure cases,summarized the typing characteristics of spontaneous closure and non-closure cases,and analyzed the relationship between the postnatal operation time and the size as well as the type of i-VSD.Results Of the 239 VSD cases,16(6.7%)were simple membranous VSD,77(32.2%)were perimembranous VSD,4(1.7%)were subcristal VSD,6(2.5%)were intracristal VSD,8(3.3%)were subarterial VSD,110(46.0%)were muscular VSD,18(7.5%)were mixed type of VSD(including 8 cases of subseptal and perimembranous mixed type).Five cases were lost to follow-up.For the rest 234 cases,ventricular level shunting could be detected by FE and the size of VSD were ranged from 0.8-15(2.8±1.7)mm.Two-hundred and twelve of the 234 i-VSD fetuses were born,including 22 cases(9.4%)with spontaneous closure in pregnancy and 190 cases(81.2%)without closure in uterus.For the 190 fetuses without closure prenatally,104(44.4%)were spontaneous closure after birth(One was spontaneous closure immediately after birth,one was at 2-month-old,3 were at 6-month-old,51 were at one-year-old,29 were at two-year-old,and 13 were at three-year-old).86 cases(36.8%)of i-VSD were non-closure after birth.Twenty-three cases underwent surgical intervention and the rest 63 cases were continued to observe till the children grow up to 3-year-old.Down screening were checked in 94 cases and 2 cases were positive.All the patients′noninvasive DNA testing results

关 键 词：单纯性室间隔缺损 胎儿超声 自发性闭合 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]