胎儿先天性心脏病产前超声筛查诊断模式的评价

目的 评价胎儿先天性心脏病产前超声筛查诊断模式.方法 收集2004年2月-2007年5月复旦大学附属妇产科医院产科在孕24周前行产前诊断的11 410例孕妇,应用超声筛查其11 544例胎儿的先天性心脏病发生情况.超声筛查切面包括四腔心切面、流出道切面(包括左室流出道+三血管切面),计算不同切面诊断先天性心脏病的敏感性及特异性,并随访胎儿预后.结果 (1)11 544例胎儿中,筛查出先天性心脏病48例,漏诊6例,先天性心脏病发生率为0.47%(54/11 544).(2)四腔心切面发现胎儿先天性心脏病33例,主要为室间隔缺损18例(其中9例合并锥干异常)、房室瓣膜异常6例及左、右心不对称9例.四腔心切面诊断先天性心脏病的敏感性为61.11%(33/54),特异性为99.98%(11 488/11 490).流出道切面诊断胎儿先天性心脏病15例,包括肺动脉闭锁1例,肺动脉瓣狭窄3例,大血管错位2例,肺动脉狭窄及大血管错位1例,法洛四联症6例,肺动脉狭窄2例.四腔心切面+流出道切面诊断胎儿先天性心脏病的敏感性为B8.89%(48/54),特异性99.98%(11 488/11 490).(3)48例先天性心脏病胎儿中,有11例合并其他器官系统异常,另有11例行羊膜腔穿刺检查胎儿染色体,其中5例为21三体.结论 四腔心切面+流出道切面对胎儿先天性心脏病的产前超声筛查有较高的检出率,此产前超声筛查诊断模式在临床上诊断胎儿先天性心脏病切实可行.     

产前超声筛查胎儿唇裂和(或)腭裂及相关畸形

目的 评估产前超声对胎儿唇裂和(或)腭裂(简称唇腭裂)的检出率,以及合并的相关结构及染色体异常的发生情况. 方法 本研究为回顾性分析,纳入2006年1月至2010年12月在广州市妇女儿童医疗中心进行常规产前检查并分娩的单胎妊娠孕妇31 245例,于妊娠中期常规行胎儿超声筛查,发现唇腭裂的胎儿建议行染色体核型分析.所有活产新生儿及引产儿均进行口腔检查,以确诊唇腭裂,分析产前诊断的准确性. 结果 所有活产新生儿及引产儿共诊断唇腭裂48例,发生率为1.5‰(48/31 245),其中单纯唇裂占33.3％(16/48),唇裂合并腭裂占43.8％(21/48),单纯腭裂占22.9％(11/48).产前超声共发现18例单纯唇裂,其中14例与生后/引产后诊断完全相符,单纯唇裂产前超声诊断准确率为77.8％(14/18);3例分娩后发现新生儿同时合并腭裂,补充诊断为唇裂合并腭裂;1例产前超声诊断唇裂,因羊水过少引产,但引产儿无唇裂.产前超声检出18例唇裂合并腭裂,生后/引产后证实产前超声诊断均正确.2例胎儿产前超声检查正常,但新生儿检查发现单纯唇裂,均为Ⅰ度.产前超声未检出单纯腭裂,但新生儿生后诊断单纯腭裂11例.产前超声检出唇裂及唇裂合并腭裂的敏感性为86.5％(32/37),检出唇腭裂总的敏感性为66.7％(32/48),假阳性率为2.1％(1/48).产前超声诊断36例唇腭裂胎儿中10例(27.8％)合并其他结构畸形,与生后检查结果一致.产前检出18例唇裂合并腭裂胎儿中9例行染色体检查,其中 7例染色体异常.产前超声检出的36例唇腭裂胎儿中仅13例(12例单纯唇裂,1例唇裂合并腭裂)正常分娩,余23例孕妇均选择引产. 结论 产前超声筛查单纯唇裂及唇裂合并腭裂敏感性高,但难以检出单纯腭裂.单纯唇裂合并染色体异常概率低,而一旦合并腭裂,合并染色体异常及其他结构异常的风险增高.     

"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

目的 探讨2006年国际妇产科超声协会公布的"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值.方法 2006年9月-2007年7月在南京大学医学院附属鼓楼医院母胎医学中心接受胎儿超声筛查的单胎孕妇5000例.平均年龄28岁(18～48岁),平均孕周27周(妊娠18～40周).以"胎儿心脏筛查指南"为标准对胎儿四腔心和左、右心事流出道及三血管切面进行扫查,对疑有心脏异常者进一步行胎儿超声心动图枪查,对确诊先天性心脏病胎儿建议羊水或脐血穿刺行染色体核型分析,终止妊娠者行胎儿尸体心脏解剖;继续妊娠者,于胎儿出生后2～6个月行超声心动图随访.结果 (1)超声筛查各切面获取率:5000例单胎孕妇中,四腔心切面获取率为97.64%(4882/5000),其中左、右心室流出道及三血管切面的获取率分别为87.69%(4281/4882)、82.51%(4028/4882)和96.29%(4701/4882).5000例孕妇中,孕中期筛查2750例,孕晚期筛查2250例,孕晚期各标准切面的获取率明显低于孕中期(P<0.05).(2)胎儿先天性心脏病发病率:4882例胎儿中最终诊断先大性心脏病73例,发病率为1.50%(73/4882),其中产前超声确诊50例(孕中期24例、孕晚期26例).超声漏诊23例,误诊1例,合并其他器官畸形18例.(3)随访结局:产前诊断为先天性心脏病的胎儿中接受尸体心脏解剖19例,均与产前超声诊断结果一致;继续妊娠者胎儿出生后接受超声心动图检查12例,其中与产前诊断符合11例,另1例产前诊断三尖瓣关闭不全,产后超声检查正常.接受染色体检查23例,染色体核型异常7例.(4)产前超声筛查的敏感性与特异性:四腔心切面确诊先天性心脏病胎儿28例,同时加入左、右心室流出道及三血管切面共诊断先天性心脏病50例,诊断的敏感性为69%(50/73)、特异性为99.98%(4808/4809),假阴性率为0.48%(23/4831),假阳性率为2%(1/51).结论 国际妇产科超声协会2006年公布的"胎儿心脏筛查指南"临床实用、易于遵循、便于操作.就最佳超声切面获得来说,孕中期(18～27周)是最佳筛查时间.胎儿四腔心和左、右心窒流出道及三血管切面同时筛查,可产前诊断69%的先天性心脏病胎儿.     

超声心动图对胎儿先天性心脏结构异常的诊断价值

目的探讨超声心动图对胎儿先天性心脏结构异常诊断的价值.方法2004-01-2005-10江门市妇幼保健院对724例胎儿心脏进行了二维、M型、彩色多普勒血流显像检查.取胎儿四腔心切面,三血管平面,大血管短轴切面,左心室长轴切面,主动脉长轴切面,右室两腔切面等多切面检查.结果724例胎儿超声心动图检查中15例诊断胎儿先天性心脏结构异常,4例伴有多发畸形.13例进行了治疗性引产,其中9例均经尸解证实超声诊断结构,4例拒绝尸解;1例心包积液;1例超声诊断为卵圆孔增大,出生后复查心脏结构未见异常.709例产前超声心动图检查未发现异常者3例于出生后发现先天性心脏病.结论超声心动图对胎儿先天性心脏结构异常的诊断具有重要价值.四腔心切面、三血管平面是超声诊断先天性心脏结构异常最重要的切面.     

超声心动图的四腔心切面产前诊断胎儿先天性心脏病的价值

目的 探讨超声心动图的四腔心切面（四腔心切面）产前诊断胎儿先天性心脏病（先心病）的价值。方法 回顾性分析780例妊娠16-36周通过四腔心切面进行产前诊断是的孕妇及其新生儿的临床资料。结果 780例胎儿中,94.6%,(738/780)的胎儿可以获取满意的四腔心切面,其中3例胎儿异常,1例为三尖瓣下移畸形（Ebstein综合征）,1例为严重的室间隔缺损,1例为单心房单心室和主动脉狭窄,例1和例3分别于出生后行尸体解剖和新生儿超声心动图检查,均符合产前诊断,例2出生后超声心动图检查证实为单心房和单心室,其余777例新生儿中,出生后身体检查并追踪至产后6周,发现3例先心病,其中1例室间隔缺损,1例房间隔缺损,1例房间隔缺伴肺动脉狭窄,四腔心切面诊断胎儿先心病的敏感性为50%,特异性为100%。结论 四腔心切面可以显示胎儿心脏的大部分结构,探测成功率高,对先心病的宫内诊断有较高的敏感性和极高的特性,可将胎儿四腔心切面作为常规的产检查项目。     

胎儿心脏锥干畸形产前诊断评价

目的评价胎儿心脏锥干畸形产前超声心动图诊断准确性。方法运用胎儿超声心动图进行先天性心脏病产前诊断，并与心脏病理诊断或新生儿心脏超声诊断进行比较分析。结果2063例胎儿进行心脏超声检查，产前发现胎儿心脏锥干畸形28例，诊断时平均孕周26．6周（16～40周），产前诊断包括大血管转位5例，法洛四联症5例，右室双出口6例，永存动脉干9例，室间隔缺损合并主动脉骑跨可能1例，2例检查发现大血管位置异常但胎儿超声心动图未予明确诊断。24例经胎儿心脏病理检查或新生儿心脏超声检查确诊，4例失访（包括1例TOF／TA？，2例“大血管发育异常”，1例TGA）。比较产前诊断与产后诊断，分析大血管位置关系诊断准确性为75．0％（18／24）。结论胎儿超声心动图可正确诊断胎儿心脏锥干畸形，需运用多种超声切面及彩色脉冲多普勒确定大血管位置关系。     

胎儿先天性心脏病母体相关危险因素的病例对照研究

目的 探讨与胎儿发生先天性心脏病(简称先心病)相关的母体危险因素. 方法 本研究为病例对照研究.2006年11月至2009年10月,16645例孕妇于北京大学人民医院以及北京市海淀、昌平、门头沟及大兴区4家妇幼保健院接受胎儿心血管畸形筛查,产前或新生儿生后超声心动图检查诊断为先心病的112例孕妇(胎儿复杂型先心病40例,简单型先心病72例)作为病例组.随机选取同期在5家医院行妊娠中晚期超声胎儿系统筛查且新生儿超声心动图检查无异常的304例孕妇作为对照组.采用单因素及二项分类Logistic回归模型分析与胎儿发生先心病相关的母体危险因素, 结果 (1)一般情况:胎儿复杂型先心病组孕妇平均年龄28.3岁(21 ～40岁),胎儿简单型先心病组孕妇平均年龄29.9岁(22～39岁),与对照组孕妇平均年龄[29.5岁(20～44岁)]比较差异均无统计学意义(t值分别为1.511和-0.826,P值分别为0.138及0.410).(2)单因素分析:复杂型先心病组孕妇妊娠早期上呼吸道感染的发生率为46.2％(18/39),不良环境接触(房屋装修)的比例为32.5％(13/40),均高于对照组[分别为14.9％(45/303)和2.0％(6/304)],差异均有统计学意义(x2=22.399和62.678,OR=4.895和23.753,95％CI:2.419～9.905和8.358～67.506,P均=0.000).简单型先心病组孕妇有先心病家族史的比例为4.2％(3/72),高于对照组[0.0％(0/304)],差异有统计学意义(Fisher精确概率法,P=0.007).(3) Logistic回归分析:妊娠早期上呼吸道感染(OR=5.120,95％CI:2.340～11.206,P=0.000)及不良环境接触史(OR=23.030,95％CI:7.506～70.665,P=0.000)是胎儿发生复杂型先心病的危险因素. 结论 妊娠早期上呼吸道感染及不良环境接触史可能是导致子代发生复杂型先心病的危险因素;母亲先心病家族史可能是胎儿发生简单型先心病的危险因素.     

三个心脏超声切面在常见先天性心脏病产前诊断中的作用

目的 探讨三个胎儿超声心动图标准切面：四腔心切面、五腔心切面、三血管平面在发现和诊断胎儿常见先天性心脏病中的作用及对于先天性心脏病产前筛查的意义。方法 回顾2003年5月至2004年7月胎儿心脏畸形各病例的心脏超声图像，记录每一病例三个超声切面（四腔心切面、五腔心切面、三血管平面）的彩色多普勒超声图像表现，分析并总结各切面异常表现的特点。结果 （1）研究共包括胎儿心脏畸形病例26例，疾病类型包括房室间隔缺损、单纯性室间隔缺损、单心室、单心房、左心发育不良综合征、法洛四联症、右心室双出口、纠正性／完全性大动脉转位、动脉单干、主动脉瓣狭窄、肥厚性心肌病（梗阻型）、心脏肿瘤。（2）各心脏畸形病例在这三个心脏超声切面的扫查中至少有1个切面显示异常。每一类心脏畸形在这三个切面图像上均有特征性表现。（3）所有病例中二维四腔心切面（常规产科筛查切面）显示异常的比例为73％，四腔心切面未显示异常的病例包括：完全性大血管转位3例、法洛四联症1例、右心室双出口1例、动脉单干1例、主动脉骑跨伴室间隔缺损1例。（4）各标准切面获得率分别为：96．2％、88．5％、84．6％。结论 （1）四腔心切面、五腔心切面、三血管平面这三个胎儿彩色多普勒心脏超声切面探查在各类胎儿常见的先天性心脏病超声产前检查与诊断中起重要的作用。（2）与运用单个二维四腔心切面探查比较，三个切面的探查方法可提高常见先天性心脏病，尤其是胎儿心脏锥干畸形的检出率。（3）三个切面探查操作较为简便，有望成为一项胎儿先天性心脏病的筛查方法。     

七切面联合筛查法在孕中晚期胎儿先天性心脏病检查中的应用价值

目的 探讨七切面联合筛查法在孕中晚期胎儿先天性心脏病检查中的可行性和临床价值.方法 2006年9月至2007年2月,在南京医科大学鼓楼临床学院母胎医学中心对妊娠18周以上的2000例单胎孕妇进行胎儿系统结构筛查的同时进行胎儿心脏七切面联合扫查,对先天性心脏病胎儿终止妊娠者进行胎儿尸体心脏解剖;继续妊娠者,于婴儿出生后6个月内进行超声心动图随访.结果 2000例单胎妊娠胎儿中,最终四腔心切面获取率为99.0%,其中左心室流出道、右心室流出道、三血管、主动脉弓、动脉导管弓和上下腔静脉切面的获取率分别为92.5%、90.9%、98.5%、86.8%、84.6%和91.6%.心脏筛查中,脊后位时心脏七切面的获取率均在80%以上.2000例单胎妊娠胎儿中,发现先天性心脏病19例,发生率为0.95%.产前诊断13例(其中误诊1例),漏诊7例,误诊1例,诊断敏感性63.2%、特异性99.9%.结论 七切面联合筛查法在孕中晚期胎儿先天性心脏病检查中切实可行,能在产前诊断出大部分心脏畸形,尤其是心脏复杂畸形.     

应用超声检测胎儿心脏异常110例分析

目的探讨各种超声检查方法检测胎儿心脏异常的可行性.方法应用二维超声心动图检测胎儿心脏四腔心切面、左右室流出道切面,观察胎儿心脏解剖结构,必要时作彩色多普勒血流追踪扫查;加用M型超声或多普勒超声心动图观察胎儿心脏传导系统.结果自1983年至1997年期间,应用超声检出胎儿心脏异常110例,其中胎儿心脏解剖结构异常13例,胎儿心脏传导系统异常95侧,心脏解剖结构异常伴传导系统异常2例.由二维超声心动图首先怀疑胎儿心脏解剖结构异常的有14例,占93.33%(14/15),诊断胎儿心脏传导系统异常的有62例,占63.92%(62/97);由二维超声心动图加用彩色多普勒确诊胎儿心脏解剖结构异常的有15例,占100%(15/15);由脉冲多普勒超声诊断胎儿心脏传导系统异常的有35例,占36.08%(35/97).结论产前超声常规应用中档超声仪可筛选大部分胎儿心脏异常,这更符合我国的国情,有助于我国优生事业的发展.     

心脏轴测定在胎儿先天性心脏病产前超声诊断中的临床意义

目的探讨超声心动图测定心脏轴变化在胎儿先天性心脏病（先心病）产前诊断中的临床意义。方法应用Ａｃｕｓｏｎ１２８×Ｐ／１０彩色多普勒超声诊断仪检查５１８例胎龄１８～４０周的先心病高危胎儿和９０例正常胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果正常胎儿心脏轴为（４４．８±１０．３）度,先心病胎儿心脏轴为（５８．１±１５．７）度,两者比较,差异有显著性（Ｐ＜０．０１）。单纯四腔观检测胎儿先心病的敏感性为６８．５％,应用心脏超声四腔观加心脏轴测定检测胎儿先心病的敏感性为９１．４％,两者比较,差异有显著性（Ｐ＜０．０５）;５１８例先心病高危胎儿中,产前超声正确诊断先心病３４例,假阳性１例,假阴性１例。结论正常胎儿心脏轴范围２０～７５度,如心脏轴＞７５度,应高度怀疑胎儿先心病;心脏轴测定在胎儿先心病筛查中具有重要作用,可作为一种常规测量指标。     

Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis.

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.     

彩色多普勒超声心动图检测胎儿先天性心脏病

目的　探讨彩色多普勒超声心动图检测胎儿先天性心脏病 (先心病 )的可行性。　方法　 2 96例胎儿分为两组 :14 2例有高危因素的胎儿 ,15 4例正常妊娠胎儿。应用多普勒测定胎儿心脏各切面 ,并在生后作超声心动随访。　结果　在 14 2例有高危因素的胎儿中 ,发现胎儿先心病 5例 ,其中右心发育不良综合征 1例、法洛四联症 2例、单纯性室间隔缺损 (室缺 ) 2例。漏诊 2例 ,为单纯性室缺1例及房间隔缺损 1例。 15 4例正常妊娠胎儿中未发现先心病。生后超声心动随访或引产尸检结果与产前诊断相符。　结论　彩色多普勒超声心动图在诊断胎儿先心病方面是比较准确和安全的 ,对高危孕妇需加强胎儿先心病的检测     

Value of fetal echocardiography in diagnosis of congenital heart disease in a Serbian university hospital

OBJECTIVE: Ultrasound examination for each and every pregnancy is being accepted as a standard practice worldwide, and prenatal ultrasound diagnosis of congenital heart disease (CHD) is improving due to both staff education and ultrasound equipment modernization. The objective of this study was to estimate the value and accuracy of fetal echocardiography for diagnosis of fetal CHD in a large tertiary referral center for obstetrics and gynecology. METHODS: This study was based on a prospective follow-up of 27,051 consecutive patients at the Institute of Ob/Gyn, Belgrade, during 1999-2003. Out of this population a total of 517 (1.9%) patients were selected for fetal echocardiography. The final diagnosis of congenital heart disease was confirmed or rejected on the basis of autopsy and histopathological findings, for the dead fetuses and newborns, or on the basis of neonatal echocardiography (followed by surgery/invasive diagnostic procedure), for the living neonates. RESULTS: From the total population analyzed, there was 71 gravida (0.26%) with congenital fetal heart disease. In that study group, the most frequent cardiac anomalies were complex congenital heart diseases. Analyzing the outcome, there were 67.6% cases with fetal CHD who delivered live neonates. Out of the 73 fetuses/neonates with CHD, abnormal karyotype was detected in only 9 cases. The parameters of the diagnostic value of fetal echocardiography were as follows: sensitivity 94.4%, specificity 99.8%, positive predictive value 98.5%, negative predictive value 99.1%, and overall diagnostic accuracy 99.0%. CONCLUSION: Fetal echocardiography has a very high diagnostic accuracy, commending referral of suspected patients to large tertiary referral centers.     

产前超声指标评分法对胎儿18三体综合征的诊断价值

目的 探讨产前超声指标评分法对胎儿18三体综合征的诊断价值.方法 采用前瞻性方法对2004年1月至2009年12月在中山大学附属第一医院行产前超声筛查孕妇中,发现胎儿结构或软指标异常者行胎儿染色体核型检查,根据胎儿染色体核型分析结果,分为18三体组和非18三体组.对两组胎儿任一异常超声指标进行单因素logistic回归分析,分别计算各超声指标的阳性似然比(+LR).+ LR≥200的超声指标赋值3分,100≤+LR ＜200的超声指标赋值2分,+LR＜100的超声指标赋值1分.根据受试者工作特性( ROC)曲线,确定最佳诊断界值.结果 (1)符合入选标准孕妇共26 545例,产前超声检查可疑胎儿畸形或有超声软指标异常并接受胎儿染色体检查者共4044例,其中21三体93例,18三体59例,13三体19例,其他类型染色体异常134例,正常核型3739例.22 501例胎儿产前超声检查无异常,3985例胎儿出生后随访其结局也无异常,共计26 486例胎儿为非18三体组,59例18三体胎儿为18三体组.(2)18三体组59例胎儿均有2种及以上超声提示的结构异常,其中最常见为肢体异常(85％,50/59),其次是心脏畸形(83％,49/59)和中枢神经系统异常(75％,44/59).肢体异常中以重叠指最常见,心脏畸形中室间隔缺损最多见,中枢神经系统畸形中最常见为“草莓头”型.(3)经logistic回归分析,所有超声异常指标中可进入回归方程的是脉络膜囊肿、“草莓头”型、后颅窝池增宽、前脑无裂畸形、耳低置、室间隔缺损、左心发育不良综合征等16项,按照此16项超声指标的+LR值分别得出不同分值.(4)18三体组和非18三体组产前超声评分1分值分别为2％ (1/59)和2.549％(675/26 486),4分值分别为9％( 5/59)和0.215％ (57/26486),9分值分别为10％( 6/59)和0.004％( 1/26 486),10～16分值分别为32％ (19/59)和0.(5)以不同总评分值为超声诊断18三体征的截断值,计算出各分值的敏感度和特异度,ROC曲线下面积为0.999.以总评分4分为最佳诊断值,诊断18三体征的敏感度为0.966,特异度为0.997.结论 超声指标评分法对18三体综合征具有较好的诊断价值,以4分作为诊断18三体综合征截断值其诊断效价最高.     

Trends in the Prenatal Detection of Major Congenital Heart Disease in Alberta From 2008–2018

ObjectiveThe effect of expanded obstetrical ultrasound cardiac views on the diagnosis of fetal congenital heart disease (CHD) has not been fully examined at a population level. We hypothesized there has been a significant increase in the prenatal detection of CHD in Alberta, particularly for CHD associated with cardiac outflow tract and 3-vessel view abnormalities.MethodsUsing provincial databases, we retrospectively identified all fetuses and infants diagnosed between 2008 and 2018 in Alberta with major CHD requiring surgical intervention within the first postnatal year. We evaluated individual lesions and categorized CHDs into the following groups based on the obstetrical ultrasound cardiac views required for detection: (1) 4-chamber view (e.g., hypoplastic left heart syndrome, Ebstein’s anomaly, single ventricle); (2) outflow tract view (e.g., tetralogy of Fallot, d-transposition, truncus arteriosus); (3) 3-vessel or other non-standard cardiac views (e.g., coarctation, anomalous pulmonary veins); and (4) isolated ventricular septal defects using any view.ResultsOf 1405 cases of major CHD, 814 (58%) were prenatally diagnosed. Over the study period, prenatal detection increased in all groups, with the greatest increase observed for groups 1 and 2 (75%–88%; P = 0.008 and 56%–79%; P = 0.0002, respectively). Although rates of prenatal detection also increased for groups 3 and 4 (27%–43%; P = 0.007 and 13%–30%; P = 0.04, respectively), fewer than half of the cases in each group were detected prenatally, even in more recent years.ConclusionsWhile rates of prenatal detection of CHD have significantly improved during the past decade, many defects with abnormal 3-vessel and non-standard views, as well as isolated ventricular septal defects, still go undetected.     

Prenatal diagnostics of congenital heart disease--own results

OBJECTIVES: Congenital heart defects (CHD) are the most common congenital malformation. They are still often overlooked in fetuses during the routine obstetric scanning. DESIGN: The aim of our study was to present our results in detecting CHD in high risk pregnancies. MATERIAL AND METHODS: The echocardiograms of 135 fetuses and case history of neonates who had prenatal diagnosis of CHD were revied retrospectively. RESULTS: We diagnosed CHD in 135 fetuses. The most common CHD were: atrio-ventricular canal (32 fetuses-23,7%), hypoplastic left heart syndrome (17 fetuses--12.6%), ventricular septal defect (11 fetuses--8.2%), and aortic stenosis (10 fetuses--7.4%). There were 15 intrauterine deaths (11.1%) and 8 neonatal deaths. CONCLUSIONS: Prenatal echocardiography enables early detecting and adequate treatment of congenital heart defects.     

Accuracy of prenatal diagnosis of congenital heart defects.

OBJECTIVES: (1) To evaluate the detection and accuracy of fetal echocardiography for congenital heart defects (CHD). (2) To compare the detection and accuracy of a team of maternal fetal medicine specialists and radiologists (MFM/R) with those of perinatal cardiologists (PC). METHODS: All fetal echocardiograms performed from 1/91 to 6/95 were reviewed retrospectively. CHD diagnoses made prenatally were compared with postnatally-confirmed diagnoses. RESULTS: 106 heat defects were correctly detected prenatally. There were 10 incorrect diagnoses, 6 false-negatives and 4 false-positives. Overall detection rate (sensitivity) was 95%, while overall accuracy was 87%. Detection rate for MFM/R and PC were 91 and 97%, respectively (p = 0.4). Accuracy was 74% for MFM/R and 92% for PC (p = 0.02). CONCLUSIONS: CHD can be identified reliably by prenatal echocardiography. The involvement of a PC in the prenatal diagnosis of these defects may improve diagnostic accuracy.     

Real-time three-dimensional fetal echocardiography using matrix probe

OBJECTIVE: To investigate the feasibility of using real-time three-dimensional echocardiography (3DE) to evaluate the fetal heart. METHODS: Sixty fetuses were studied with gestational age between 22 and 34 weeks. The fetal heart was normal in 44 fetuses. In 16 fetuses, the fetal heart had morphologic abnormalities (hypoplastic left ventricle in 4, tetralogy of Fallot in 2, Ebstein anomaly in 2, rhabdomyomes in 2, hypoplastic right ventricle in 1) or myocardial dysfunction (in 5 fetuses). Real-time 3DE was performed with a cardiac matrix probe (2-4 MHz). Two modalities of 3D imaging were performed: Biplane and Live 3D imaging. RESULTS: Real-time 3DE was performed successfully in 93%. Biplane imaging allowed a multiplanar scanning of the fetal heart. Using rotation, lateral and vertical tilts, the normal cardiac structures were identified from a unique reference image plane: atria and ventricles, atrioventricular valves, aorta and pulmonary artery. Live 3D imaging allowed surface imaging of the fetal heart. 'En face' view of the foramen ovale from the right atrium was obtained, showing the shape of the orifice. By cropping the pyramidal imaging volume, ascending aorta, aortic arch and ductus arteriosus were depicted from a single dataset. In pathologic fetal hearts, 3DE was helpful for (1) localizing multiple cardiac tumors; (2) estimating size and function of the right and left ventricles; (3) evaluating mechanism of valvular regurgitation and pulmonary obstruction. CONCLUSION: Real-time 3DE is a feasible and non-time-consuming method, allowing a multiplanar scanning and new inside 3D views of the fetal heart.