超声产前筛查对中孕期胎儿复杂先天性心脏畸形的诊断探讨

选取2014年5月~2015年5月我院480例中孕期妇女。研究其产前超声结果并且对产后随访记录做进一步分析。结果所有胎儿中共确诊出患有复杂先天性心脏畸形13例,检出率2.71%,其中2例大动脉转位,1例主动脉弓中断,2例单心室或单心房,2例右心发育不良,3例合并心外畸形,2例法络四联征以及1例室间隔缺损,产前检出率与产后随访率二者之间比较无显著性差异(P0.05);而所有胎儿中漏诊2例患有先天性心脏畸形者,分别是主动脉弓中断和肺动脉狭窄各1例,漏诊率0.42%。应用超声产前筛查对于中孕期胎儿复杂先天性心脏畸形进行诊断的临床检出率较高,可以有效降低先天性心脏畸形胎儿的出生率,值得推广。     

胎儿心脏超声筛查在先天性心脏病检测中的应用

目的探讨胎儿心脏超声筛查在先天性心脏病检测中的应用价值。方法以胎儿四腔心、左室流出道、右室流出道、三血管、主动脉弓、动脉导管弓切面为标准切面,快速筛查观察胎儿心脏结构形态是否正常。出生后一周内全部进行新生儿彩色多普勒超声心动图检查,以尸体解剖结果、新生儿超声心动图检查及随访结果与胎儿心脏超声筛查结果相对照。结果在1200例胎儿中发现10例心脏结构异常,其中产前胎儿心脏超声筛查确诊9例：单心室1例,肺动脉瓣狭窄伴右室发育不良1例,三尖瓣下移1例,心内膜垫缺损2例,室间隔缺损2例,法洛四联症1例,三房心1例。另外1例心尖部室间隔缺损产前检查漏诊。显示产前诊断胎儿先天性心脏病的敏感性为90%,特异性为100%。结论以上述6个切面为标准进行胎儿心脏超声筛查可排除心脏复杂畸形。建议在进行胎儿产前常规超声检查时增加3~5分钟时间,以六个切面为标准快速进行胎儿心脏筛查,以降低胎儿先天性心脏病的漏诊率。     

妊娠晚期筛查胎儿心脏畸形的常见胎位主要切面法

目的探讨超声筛查胎儿心脏畸形的快速、准确的检查方法。方法在常规的胎儿心脏筛查工作中,根据常见胎位正常胎儿心脏主要切面的声像图特点结合各扫查方法,判断心脏各切面与上述常见胎位正常胎儿心脏的主要切面有无不同及异常,有异常者进一步做胎儿超声心动图详细检查确诊。结果4526例胎儿中经引产后病理或新生儿超声心动图证实有先天性心脏畸形者25例,产前超声共检出心脏畸形16例(复杂先心病15例),漏诊室间隔缺损9例(生后证实均<5mm),检出率64%(16/25),而其中严重复杂的心脏畸形的检出率为100%(15/15)。其他病例经临床或新生儿超声心动图证实未见明显心脏畸形。结论常见胎位主要切面扫查法是产科超声医生筛查胎儿严重心脏畸形时的一种快速、较准确的筛查方法。     

成人心脏超声探头在胎儿先天性心脏病诊断中的应用

目的探讨成人心脏超声探头在胎儿先天性心脏病（简称先心病）诊断中的应用价值。方法分析19例产前超声诊断、产后超声复查和胎儿引产后尸解证实的胎儿先心病病例资料。结果应用成人心脏超声探头探查,诊断胎儿①复杂性先心病14例,占73．6％（14／19）,包括完全性心内膜垫缺损、大动脉转位,单心房、单心室、右室双出口、右室发育不良、瓣膜狭窄或闭锁、永存动脉干及法洛四联症;②单纯室间隔缺损（VSD）4例;③房间隔膨胀瘤并房间隔缺损（ASD）1例。结论成人心脏超声探头可应用于胎儿心脏的检查,能清楚显示心脏和大血管的血流信号,大大提高胎儿先心病的检出率。     

心脏超声检查在胎儿先天性心脏病筛查中的应用价值分析

目的:观察心脏超声检查在胎儿先天性心脏病筛查中的应用价值。方法:选取2015年1月至2017年1月商丘市中医院彩超室接受超声检查的孕妇50例为研究对象,均实施常规彩色多普勒超声检查,记录先天性心脏病胎儿检出率,并将检出结果同病理结果进行对照分析。结果:实施产前超声筛查产妇50例中,阳性检出率28%(14/50),其中单心室5例,心外畸形3例,室间隔缺损3例,法洛氏四联症1例,肺动脉闭锁1例,肺动脉瓣狭窄1例,诊断总符合率为92.86%(13/14)。结论:于产妇孕早期对胎儿实施彩色多谱勒超声心脏检查,可促进先天性心脏病筛查率及准确率的提高,减少胎儿心脏畸形发生,具有极为重要的临床应用价值。     

二维超声联合四维超声在筛查胎儿心脏畸形中的临床价值

目的:探讨二维超声联合四维超声检查在胎儿心脏畸形筛查中的临床价值。方法:回顾性分析2020年1月—12月聊城市东昌府区中医院诊治的100例疑似胎儿心脏畸形的孕产妇资料,均采用常规的二维超声及二维联合四维超声检查,以新生儿心脏彩超检查或是尸检结果作为金标准,比较两组灵敏度、特异度以及准确率。结果:在本次选取的100例疑似胎儿心脏畸形的孕产妇中,经新生儿心脏彩超检查或是尸检结果确诊阳性53例,阴性47例;二维超声联合四维超声共同筛查的灵敏度、特异度以及准确率均高于二维超声检查(P<0.05);且二维超声联合四维超声检查与金标准检查胎儿心脏畸形有良好的一致性。二维超声联合四维超声对双主动脉弓、室间隔缺损、房间隔缺损、三尖瓣反流的检出率均高于二维超声,总检出率差异显著(P<0.05)。结论:二维超声联合四维超声筛查胎儿心脏畸形情况诊断价值较高,可有效降低胎儿心脏畸形误诊率及漏诊率。     

超声血管增强技术联合断层超声显像技术在胎儿先天性心脏病诊断中的应用

目的探讨超声血管增强技术(VET)联合断层超声显像技术(TUI)在胎儿先天性心脏病诊断中的应用价值.方法应用VET-TUI技术对二维超声筛查诊断为先天性心脏病的17例孕22~30周中晚孕期胎儿进行检查,在获取满意的胎儿心脏容积数据后通过TUI模式,对胎儿心脏进行断层分析,并与产后临床检查结果进行对照分析.结果产前应用VET-TUI技术17例胎儿均获得满意的心脏容积数据及胎儿心脏断层成像图像,17例先天性心脏病胎儿中单一性先天性心脏病3例,复合性先天性心脏病14例.17例胎儿心脏畸形包括心内膜垫缺损5例、永存左位上腔静脉7例(其中1例下腔静脉离断合并异常连接)、右心室双出口4例(包括左侧心室解剖右心室双出口)、肺动脉狭窄6例、室间隔缺损8例、主动脉弓缩窄2例、大动脉转位1例、主动脉闭锁2例、右位主动脉弓3例、左心室发育不良2例、右心室发育不良1例、单心室1例、三房心1例、镜面右位心1例.产前超声诊断与引产后尸检结果相符合10例(10/17),与产后超声心动图复查结果相符合5例(5/17),误诊2例(1例超声诊断永存动脉干,尸检证实为升主动脉闭锁,1例超声诊断单心室,尸检证实为左心室发育不良).结论应用VET-TUI技术可增加超声图像的清晰度,使胎儿心脏与大血管容积图像清晰直观,易于辨别,较常规二维超声心动图能提供更多胎儿心脏细微解剖结构的诊断信息.     

超声监测筛查胎儿先天性心脏畸形

目的 探讨超声监测筛查胎儿先天性心脏畸形的可行性及临床应用价值。方法 对常规产前超声检查在胎心四腔观中疑有异常，临床发现胎儿心律不齐，以及母体有高危因素共20例行超声心动图检查。以观察胎儿四腔观为基础，酌情增加长轴、短轴、主动脉弓等切面观，并适当配合彩色多普勒及脉冲多普勒超声检查。结果 超声检查发现的20例先天性心脏异常中，17例先天性心脏病，其中1例右位心并完全性内脏转位，1例为单纯性室内隔缺损（生后证实其染色体为21三体），15例复杂性先天性心脏病；3例心脏肿瘤，其中2例为室间隔横纹肌瘤，1例为心室壁横纹肌瘤。20例心脏异常病例中4例同时合并其他器官结构异常，7例右位心及不同程度内脏转位，8例脐动脉A/B值异常，4例心律紊乱。结论 产前超声筛查胎儿先天性心脏畸形切实可行。对有高危因素、胎儿心律失常及其他内脏畸形者，应重点行超声心动图检查。     

二维超声"三切面"法筛查胎儿先天性心脏畸形

目的 探讨应用二维超声"三切面"法筛查胎儿先天性心脏畸形的可行性及局限性. 方法 以四腔心、左心室、右心室流出道为筛查切面,筛查胎儿先天性心脏畸形.疑有异常者送上级医院行系统超声心动图检查,并追踪随访,与引产后尸检或出生后超声心动图对照. 结果 本法筛查获得较清晰的胎儿心脏二维结构图像.12 046例受检胎儿中,正确诊断胎儿心脏异常19例,误诊1例,漏诊2例,产前诊断符合率86.36%. 结论 应用二维超声采用四腔心加左右心室流出道切面法检查可清楚直观地观察胎儿心脏解剖结构,方法 简便可靠.     

实时三维时空关联成像技术对20孕周前胎儿心脏畸形的诊断价值

目的探索实时三维时空关联成像技术（STIC）对20孕周前胎儿先天性心脏病（FCHD）的诊断价值。方法选取2010年6月至2012年7月在厦门大学附属第一医院杏林分院超声科常规超声检查的20孕周前连续病例共510例,均存在有高危因素,作为高危组;其孕22周后常规产前检查时作为对照组。常规二维超声心动图检查后应用STIC技术获取胎儿心脏容积数据,进行脱机分析,使用多平面重建模式（MP）和断层显像模式（TUI）获取美国超声心动图学会提出的胎儿的9个心脏切面,观察FCHD的检出情况,两组胎儿心脏畸形检出情况采用Kappa一致性检验。结果高危组20孕周前共检出胎儿心脏畸形10例,漏诊2例,22孕周后检出12例胎儿心脏畸形。具体种类及检出孕周：左室发育不良2例（孕16＋6周、孕18＋3周）,大动脉转位2例（孕16＋4周、孕18＋5周）,单心室2例（孕16＋4周、19＋3周）,室间隔缺损2例（孕17＋1周、孕18＋5周）,主动脉狭窄1例（孕16＋3周）,房室共道畸形1例（孕17＋3周）;漏诊2例为大动脉转位（孕14＋3周）、室间隔缺损（孕15＋3周）;孕22周后筛查时除上述检出外又新增检出1例大动脉转位,共检出胎儿心脏畸形11例,漏诊1例：室间隔缺损（孕15＋3周）。两组心脏畸形检出率经Kappa一致性检验为高度一致,Kappa值为86.4%。结论通常在孕22＋0～26＋6周使用二维及三维超声进行胎儿心脏畸形筛查,现将实时三维STIC技术用于20孕周前高危胎儿,心脏畸形的检出率与孕22周后一致,差异无统计学意义,最早在孕16周时可检出FCHD。因此可借助此技术尝试将心脏畸形筛查时间提前至孕16周,以期更早发现胎儿心脏畸形。     

经腹部超声心动图在孕早期胎儿先天性心脏病诊断中的应用价值

目的探讨经腹部超声心动图在孕早期胎儿先天性心脏病（CHD）诊断中的应用价值。 方法对2012年6月至2015年4月在南京军区福州总医院产前检查的1 288例高危孕妇孕早期（孕13周）胎儿行超声心动图检查,分析孕早期胎儿CHD超声表现及其特征,追踪所有入选孕妇的妊娠过程及胎儿临床结局。 结果经腹部超声心动图在1288例胎儿中诊断CHD 16例（1.2%,16/1288）,其中复杂型CHD 11例,单纯型CHD 5例。孕早期胎儿CHD超声心动图表现：（1）法洛四联症2例,超声心动图显示主动脉轻度增宽,未见明显骑跨,室间隔缺损,肺动脉狭窄,远端显示不清。（2）左心发育不良综合征2例,孕13周超声心动图显示左心明显缩小,右心扩大,二尖瓣闭锁,室间隔缺损,主动脉轻度狭窄伴血流速度加快,肺动脉增宽。（3）大动脉共干I型2例,超声心动图显示心底部仅见1条大血管,未见明显分支血管,并见室间隔缺损。（4）完全型房室间隔缺损4例,超声心动图显示心内膜正常十字交叉结构消失,房室共瓣。（5）单心室1例,超声心动图未见室间隔回声,仅见一单心室。（6）主动脉缩窄1例,孕13周超声心动图显示心内结构正常,主动脉内径正常;孕16周超声心动图显示左心偏小,主动脉峡部轻度狭窄。（7）室间隔缺损4例,超声心动图显示室间隔连续中断,断端边缘回声增强。1例小的室间隔缺损误诊,漏诊室间隔缺损和永存左上腔静脉各1例。超声诊断CHD后孕妇选择终止妊娠11例,出生5例,随访结果与产前诊断均相符。 结论经腹部超声心动图可早期诊断多数胎儿CHD,尤其表现为四腔心异常的CHD,但对CHD异常大血管起源、分支及走向的显示存在一定困难,有待中孕期进一步确诊,早孕期经腹部超声心动图检查有重要临床应用价值。     

Magnetic resonance imaging of complex congenital heart disease

Current MR techniques enable both anatomical and functional evaluations of the heart. Although it is rarely used as a primary diagnostic tool in pediatric cardiology, it can be used as a valuable adjunct to echocardiography and angiography. MRI is particularly useful in clarification of morphology of complex congenital heart diseases. It is the most accurate method of determination of visceral and atrial situs. It is easy to evaluate the systemic and pulmonary venous connections that are very important for the Fontan type of operation, especially in patients with visceral heterotaxy. It facilitates demonstration of diminutive pulmonary arteries in patients with pulmonary atresia. It clearly demonstrates juxtaposition of the atrial appendages that is often missed by echocardiography. The anatomy of the twisted atrioventricular connections is much more clear in MRI than in echocardiography. It enables en face imaging of ventricular septal defect that provides a surgical view. We find en face imaging particularly helpful in patients with double inlet left ventricle and transposition of the great arteries where the size of the ventricular septal defect governs the blood flow into the aorta. It is often advantageous to echocardiography in defining the type of univentricular atrioventricular connections by demonstrating the position and topology of the rudimentary chamber in difficult cases. In double outlet right ventricle, the spatial relationship of the ventricular septal defect to the great arterial valves can be clearly defined by visualizing the ventricular septal defect and the outlet septum in the same imaging plane.     

四腔心平面头侧偏斜法快速筛查胎儿先天性心脏畸形

目的探讨四腔心平面头侧偏斜法在诊断胎儿心脏畸形中的价值。方法应用彩色多普勒超声仪对在我院产前检查的妊娠18～40周连续病例15608例，进行胎儿心脏四腔心平面头侧偏斜法检测，即横切胎儿胸腔获取四腔心切面，观察心房与心室及其连接关系、房室间隔、左右房室瓣以及肺静脉与左房的连接关系，然后将探头声束平面略向胎儿头侧偏斜，依次显示左心室与主动脉的连接关系及右心室与肺动脉的连接关系，且实时动态扫查时观察主、肺动脉起始部的交叉及主、肺动脉相对大小，从而对心脏的主要结构及连接关系作出快速评价。结果15608例胎儿中，经产后或引产证实的各种心脏畸形126例，四腔心平面头侧偏斜法检出各种心脏畸形117例，漏诊9例。结论四腔心平面头侧偏斜法是显示胎儿心脏结构及产前筛查胎儿心脏畸形的重要影像诊断方法。     

Sonographic spectrum of fetal cardiac hypoplasia

Four cases of hypoplastic left ventricle and three cases of hypoplastic right ventricle detected sonographically prenatally are presented. A four-chamber view of the heart was abnormal in all seven cases. The sonographic appearance of the hypoplastic ventricle was variable, being smaller than normal in six of seven cases and not being identified at all in one case. Other ultrasound findings included an atrial septal defect (n = 7); increased size of the contralateral ventricle (n = 6); nonvisualization or poor visualization of the outflow tract of the affected ventricle (n = 6), and intact ventricular septum (n = 5). In one of four cases of hypoplastic left ventricle the pregnancy was terminated; the other three infants died within 5 days after birth. One of the three fetuses with hypoplastic right ventricle was aborted. Of the remaining two infants included one had tricuspid atresia with a ventricular septal defect and one had pulmonary atresia with an intact ventricular septum. Both infants are alive, have had palliative surgery, and will be considered for a more definitive surgical repair. An abnormal four-chamber view of the heart should alert those performing routine obstetrical ultrasound to a possible hypoplastic ventricle, so that the pregnant woman can be referred to a center capable of performing more sophisticated fetal echocardiography.     

体外受精-胚胎移植胎儿先天性心脏病的超声表现及分类特征

目的探讨体外受精-胚胎移植（IVF-ET）妊娠的心脏病胎儿超声心动图特征及分类情况的特殊性。方法对2011年1月至2013年6月孕18-24周在南京军区福州总医院行胎儿超声心动图检查的IVF-ET妊娠孕妇1129例,分析IVF-ET妊娠胎儿先天性心脏病超声表现及分类特征,并对部分检出胎儿心脏病的孕妇选择性进行羊水穿刺术,追踪所有入选孕妇的妊娠过程及胎儿临床结局。结果1129例接受IVF-ET的孕妇中单胎妊娠953例、双胎妊娠176例,共检测胎儿1305个,其中超声心动图诊断胎儿心脏畸形15例（1.1%,15/1305）,临床确诊15例。IVF-ET心脏畸形胎儿超声心动图表现：（1）法洛四联症5例,超声心动图示胎儿主动脉增宽伴骑跨,室间隔缺损,肺动脉狭窄,右心室肥厚。（2）左心发育不良综合征1例,超声心动图示胎儿左心明显缩小,二尖瓣闭锁,右心扩大,肺动脉扩张。（3）完全型房室间隔缺损1例,超声心动图示胎儿心内膜正常十字交叉结构消失,房室共瓣。（4）大动脉共干Ⅰ型1例,超声心动图示胎儿心底部仅见1条大血管,短小的肺动脉主干自大动脉发出,并见室间隔缺损。（5）主动脉狭窄及缩窄各1例,超声心动图示1例胎儿主动脉瓣增厚,升主动脉增宽;1例胎儿主动脉峡部狭窄伴狭窄后扩张。（6）肺动脉狭窄2例,超声心动图示胎儿肺动脉瓣狭窄伴狭窄后肺动脉扩张。（7）室间隔缺损3例,超声心动图示胎儿室间隔连续中断,断端边缘回声增强。超声漏诊胎儿室间隔小缺损1例,为出生后超声心动图检查发现。结论 IVF-ET妊娠胎儿较自然妊娠胎儿先天性心脏病的发生率高,IVF-ET妊娠胎儿与自然妊娠胎儿先天性心脏病的超声心动图表现相同。其中以法洛四联症和室间隔缺损最多见。对IVF-ET妊娠胎儿行超声心动图检查能全面系统评价IVF-ET妊娠胎儿心脏异常的情况,有重要临床指导意义。     

完全型冠状静脉窦隔缺损的超声心动图诊断

目的探讨多普勒超声心动图对完全型冠状静脉窦隔缺损(coronary sinus septal defect,CSSD)的诊断价值.方法以经右心导管检查及外科手术治疗的10例完全型冠状静脉窦隔缺损患者为研究对象,回顾性分析其二维及多普勒超声表现.结果 10例完全性CSSD患者中,超声诊断3例,诊断正确率30%;漏诊7例,占70%.10例完全型冠状静脉窦隔缺损患者中,10例均合并左侧上腔静脉残存,9例合并房间隔缺损,其中4例为房室间隔缺损,5例为房间隔缺损或大型房间隔缺损(近似功能性单心房).10例均合并于复杂型先天性心脏病中,其中7例合并右室双出口、法乐四联症、单心室等紫绀型先心病,3例为部分型房室间隔缺损和功能性单心房患者.结论在复杂型先心病合并左上腔静脉残存或房间隔缺损时应警惕完全型冠状窦隔缺损的存在,以免漏诊.     

Population-based study of antenatal detection of congenital heart disease by ultrasound examination.

OBJECTIVES: Ultrasound-based screening is widely employed for the detection of congenital malformations in utero including congenital heart disease (CHD), but there is widespread variability in the efficacy of screening programs. We aimed to evaluate current antenatal detection rates of selected congenital heart defects in Victoria. METHODS: Data were collected from the Victorian Perinatal Data Collection Unit and Birth Defects Registry. There were 631 209 births in Victoria (1993-2002), of which 4897 cases had CHD. Cases included live births, stillbirths and termination of pregnancies because of CHD. We reviewed all cases from 1999 to 2002 with atrioventricular septal defect, simple coarctation of the aorta, double-inlet or -outlet ventricle, hypoplastic left heart syndrome, simple transposition of the great arteries (TGA), tetralogy of Fallot and truncus arteriosus. Outcome measures were antenatal diagnosis, pregnancy outcome and associated malformations. RESULTS: The overall birth prevalence of CHD from 1993 to 2002 in Victoria was 7.8/1000. The antenatal detection rate for the seven selected defects from 1999 to 2002 was 52.8%. All but 4.8% of the cases had an ultrasound examination at > 13 weeks' gestation. Antenatal detection was highest for hypoplastic left heart syndrome (84.6%) and lowest for simple TGA (17.0%). CONCLUSIONS: This study shows wide variation in the antenatal detection rate of CHD in Victoria. The low antenatal detection rate of TGA, a defect that should be detected easily, demonstrates suboptimal routine obstetric anomaly scanning.     

Fetal echocardiography: a large clinical experience and follow-up

We reviewed our experience with 382 fetal echocardiograms. Complete studies were not possible for three pregnancies because of either fetal position or maternal obesity. Studies were performed for fetal arrhythmia (28%), maternal factors (21%), fetal anomaly (11%) and family history of congenital heart disease (40%). There was a recurrence of heart disease in two of 153 patients (1.3%). Arrhythmia was the most common finding (82 of 382 patients). Premature atrial and ventricular contractions were the most common arrhythmia, and structural defects were present in four of 58 patients (6.8%) with premature contractions. Fetal heart defects (n = 44) were identified in 40 of 382 (10%) referrals. The defects were complete atrioventricular block (13), ventricular septal defect (4), atrioventricular canal (5), cardiac mass (3), ectopia cordis (2), thoracopagus (2), hypoplastic left ventricle (2), hypoplastic right ventricle (2), atrial flutter (2), pulmonic stenosis (1), single ventricle (2), Uhl's anomaly (1), Ebstein's anomaly (1), mitral atresia (1), d-transposition of the great vessels (1), tetralogy of Fallot with absent pulmonary valve (1), and atrial septal defect and ventricular septal defect (1). There were three false positive (99% specificity) and two false negative (95% sensitivity) fetal echocardiograms. The survival rates for referred patients with heart defects was: live born and perinatal survivor, 54%; perinatal death, 31%; still birth, 11%; and termination of pregnancy, 4%. Fetal echocardiography is accurate, and the abnormalities detected appear to be more severe than those detected on newborn screening.     

Three-Dimensional HDlive Rendering Images of the Fetal Heart

Our objective is to describe our experience with reconstruction of normal fetal cardiac structures and congenital heart anomalies using the 3-D HDlive rendering mode with spatiotemporal image correlation (STIC). Four normal fetuses and three fetuses with congenital heart anomalies (Ebstein’s anomaly, hypoplastic left heart syndrome and tetralogy of Fallot) at 25–35 wk of gestation were studied using the 3-D HDlive rendering mode with STIC. In normal fetuses, the natural appearance of the dynamic motion of the foramen ovale flap and both atrioventricular valves was clearly visualized in real time in the four-chamber view. Moreover, new, realistic sensations of each leaflet of atrioventricular valves and semilunar valves of the pulmonary artery were obtained in the en face view of both atrioventricular valves and great vessels. In the case of Ebstein’s anomaly, the procedure rendered the natural and anatomically realistic appearance of significantly low attachment of the tricuspid valve and atrialized portion of the right ventricle. In hypoplastic left heart syndrome, thickened tricuspid and dysplastic pulmonary valves were clearly revealed. In tetralogy of Fallot, an overriding aorta and ventricular septal defect were realistically depicted. The 3-D HDlive rendering mode with STIC provides entirely new visual experiences for obstetricians and pediatric cardiologists owing to the anatomically realistic depiction of normal and abnormal fetal cardiac structures of the beating heart.