摘要
目的通过对胎儿超声心动图(echocardiography,ECHO)的切面标准和图像质量分析,探讨其对室间隔缺损(ventricular septal defect,VSD)的诊断价值及漏误诊原因。方法回顾性分析2022年1月至2024年6月间在湘潭市妇幼保健院ECHO检查诊断的94例VSD胎儿的分型及合并异常、染色体核型结果、结局及新生儿ECHO结果,同时通过回顾本院超声工作站的超声图像,描述性分析漏诊和误诊病例的ECHO切面标准和图像质量等。结果研究期间,本院共10984例胎儿进行ECHO检查,发现胎儿VSD 94例(0.9%),其中45例(48%)单纯性VSD、49例(52%)非单纯性VSD;67例(71%)膜周部、24例(26%)肌部、2例(2%)干下型、1例(1%)膜周部+肌部。29例胎儿ECHO检查未见VSD而新生儿ECHO检查诊断为VSD的漏诊病例均为单纯性VSD,其中8例(27%)膜周部、19例(66%)肌部及2例(7%)干下型;漏诊原因包括:技术因素14例(48%)、心脏声窗受限11例(38%)、检查医师因素4例(14%)。18例误诊病例均为单纯性VSD,其中15例膜周部及3例肌部;误诊原因包括:9例因声束未与膜周部室间隔垂直、6例因过高的彩色血流增益、3例因将主动脉瓣上方右心室流出道血流误认为VSD穿隔血流。胎儿ECHO对VSD诊断的敏感性和特异性分别为76.42%和99.83%。94例胎儿VSD中38例(40%)进行染色体核型分析及染色体微阵列芯片检测,其中16例非单纯性VSD检出4例(均为膜周部VSD)染色体核型异常或致病性基因变异;22例单纯性VSD均未检出异常。94例VSD胎儿中31例因合并其他结构或染色体异常而终止妊娠,63例活产儿新生儿期ECHO检查中19例(30%)未见VSD判定为宫内自然闭合,44例(70%)VSD仍然存在。结论ECHO诊断胎儿VSD具有较高的灵敏度及特异度,但在检查中需个体化调整仪器参数,并进行多切面、多角度连续扫查,尽可能减少与避免漏诊和误诊。单纯性中小型肌部及膜周部VSD通常预后良好。
Objective To explore the diagnostic value of fetal echocardiography(ECHO)for ventricular septal defect(VSD)and the causes of missed diagnosis and misdiagnosis by analyzing the standard of ECHO sections and image quality.MethodsA retrospective analysis was conducted on 94 VSD fetuses diagnosed by ECHO at Xiangtan Maternal and Child Health Care Hospital from January 2022 to June 2024.Clinical data including the anatomic subtypes,associated anomalies,chromosomal karyotype results,pregnancy outcomes,and neonatal ECHO results were collected and analyzed.Besides,by reviewing the ultrasound images from the institution's ultrasound workstation,a descriptive analysis was conducted on the ECHO section criteria and image quality in the missed and misdiagnosed cases.ResultsAmong 10984 fetuses undergoing ECHO,a total of 94 cases of fetal VSD were detected(0.7%),including 45(48%)isolated VSD and 49(52%)non-isolated VSD cases.Anatomic distribution revealed perimembranous type predominance(67,71%),followed by muscular(24,26%),subarterial types(2,2%),and perimembranous+muscular type(1,1%).Among 29 missed diagnosis cases(fetal ECHO-negative but neonatal ECHO-confirmed VSDs),all were isolated VSD,muscular types accounted for 19(66%),perimembranous types for 8(27%),and subarterial types for 2(7%).The causes of missed diagnosis include:technical limitation in 14 cases(48%),restricted cardiac acoustic window in 11 cases(38%),and operator-dependent factors in four cases(14%).All 18 misdiagnosed cases occurred in isolated VSD,with 15 cases of perimembranous and three cases of muscular types.The causes of misdiagnosis include:nine cases due to non-perpendicular beam alignment to perimembranous septum,six cases due to excessively high color flow gain,and three cases due to the misinterpretation of the right ventricular outflow tract flow above the aortic valve as VSD septal perforation blood flow.The sensitivity and specificity of fetal ECHO for diagnosing VSD were 76.42%and 99.83%.Among the 94 cases of fetal VSD,38 cases(40%)underwent chromosomal karyotype analysis and chromosomal microarray analysis,which identified chromosomal karyotype abnormalities or pathogenic gene variants in 4/16 non-isolated VSDs(all perimembranous),while no anomalies were detected in 22 isolated VSDs.Pregnancy outcomes showed 31 terminations due to associated structural or chromosomal abnormalities versus 63 live births.In the live births,who underwent echocardiography in the neonatal period,19 cases(30%)showed no VSD and were considered to have undergone spontaneous in utero closure,and persistent defects were found in 44(70%).ConclusionsFetal ECHO demonstrates high sensitivity and specificity in the diagnosis of fetal VSD.Critical quality control measures include individualized parameter adjustment and systematic multiplanar continuous scanning to minimize diagnostic errors.Isolated small and medium-sized muscular and perimembranous VSD usually have a good prognosis.
作者
袁文英
周启昌
张淋
黄兴兰
刘水珍
黄玲
刘芳
Yuan Wenying;Zhou Qichang;Zhang Lin;Huang Xinglan;Liu Shuizhen;Huang Ling;Liu Fang(Department of Ultrasonography,Xiangtan Maternal and Child Health Care Hospital,Xiangtan 411100,China;Department of Ultrasonography,the Second Xiangya Hospital of Central South University,Changsha 410011,China)
出处
《中华围产医学杂志》
北大核心
2025年第7期593-597,共5页
Chinese Journal of Perinatal Medicine
关键词
室间隔缺损
先天性心脏病
超声心动图
胎儿
产前
漏诊
Ventricular septal defect
Congenital heart disease
Echocardiography
Fetus
Prenatal
Missed diagnosis
