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     

胎儿先天性心脏病的孕期筛查

胎儿先天性心脏病 (简称先心病 )是严重影响围生儿结局的重要原因之一。目前我国每年约有 10余万先心病患儿出生 ,据统计 ,世界上活产婴儿中先心病的发病率为8‰[1] 。近年来 ,随着胎儿超声心动图的开展 ,胎儿先心病的产前诊断已取得了突破性进展 ,先心病的发生率已居新生儿畸形的首位 ,为及早诊断先心病 ,应采用经济、简便、无创伤及安全的超声筛查法 ,以便采取相应措施。1　胎儿先心病的孕期筛查方法　　虽然胎儿先心病的种类繁多 ,但多数先心病表现为四腔心不对称 ,常规的二维超声检查胎儿四腔心方法简便 ,重复性好 ,无创伤并易掌握 ,可…     

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。     

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.     

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.     

先天性心脏畸形的产前诊断及临床分析

目的探讨先天性心脏畸形的产前诊断及临床意义。方法本研究应用Yagel5个心脏横面和心脏长轴切面进行胎儿心脏扫描，并有效多普勒血流技术、彩色血流、M型超声等超声仪器各项功能技术，对2002至2004年982例先天心脏畸形高危患者进行胎儿心脏全方位检查，并对引产胎儿进行尸体解剖核对产前诊断的正确性，并进行胎儿染色体分析；对产前诊断未发现明显异常的胎儿进行临床随访，胎儿出生后进行新生儿或要儿心脏超声检查，判定产前诊断的正确性。结果（1）982例先天心脏畸形高危患者中，检查发现胎儿心脏结构异常为46例（4．7％）。其中应用单纯四腔心即能诊断的先天性胎儿心脏结构异常为32例，其余14例需同时结合其他心脏检测平面诊断。（2）41例引产胎儿中，32例进行尸体解剖，病理结果与产前超声检查符合率为93．8％（30／32），其中1例患者病理诊断为永存动脉干畸形，产前诊断为法洛四联症；另1例为右心室双流出道畸形，产前诊断为大动脉转位。（3）46例患者中，32例进行胎儿染色体检测，合并染色体异常8例（25．0％）。（4）5例为产前诊断右心系统略大胎儿，分娩后新生儿或要儿心脏超声检查，结果与产前基本相同，表现为单纯右心系统略大，但新生儿和要儿无任何临床症状。（5）936例产前诊断为正常胎儿心脏患者，新生儿或要儿心脏超声检查发现室间隔缺损1例，动脉导管未闭2例，房间隔缺损1例。结论（1）应用本研究方法，以先天心脏畸形高危患者为筛查对象，产前诊断先天性心脏畸形阳性率为4．7％，产前诊断与尸体解剖符合率为93．8％。（2）应用本研究方法可使高危人群产前诊断胎儿先天性心脏畸形的敏感性达92．0％，特异性达99．6％。（3）单纯左右心比例轻中度失调胎儿可能有较好的临床预后。     

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。     

超声检测胎儿严重先天性心脏畸形9例分析

目的 探讨二维超声心动图和彩色多普勒超声产前诊断胎儿先天性心脏畸形的可行性。方法 应用二维超声图像对胎儿心脏进行四腔切面,左室流出道,右室流出道切面等心脏解剖结构检查,加以彩色多普勒血液图对胎儿心脏进行血流方向及流速的观察。结果 １３５３９例被检孕妇中９例胎儿存在严重的先天性畸形,其中４例左心发育不良,２例肺动脉瓣狭窄,２例大血管转位,１例内脏反位,右心发育不全,均由病理尸解或新生儿心脏超声证实。     

"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.     

胎儿部分型及过渡型房室间隔缺损的产前超声诊断特点

目的 探讨产前超声诊断胎儿部分型及过渡型房室间隔缺损的价值。方法 回顾性分析11例经尸体解剖和产后超声心动图证实的部分型及过渡型房室间隔缺损胎儿的产前超声表现,总结其声像图特征。 结果胎儿超声心动图显示,7例部分型和4例过渡型房室间隔缺损在四腔心切面均显示原发孔型房间隔缺损,二尖瓣和三尖瓣在室间隔的附着点位于同一水平,关闭时与室间隔构成“T”字形图像。7例部分型房室间隔缺损中1例伴有左室-右房通道;4例过渡型房室间隔缺损均伴有室间隔上部缺损。11例胎儿中伴有二尖瓣反流4例,二、三尖瓣反流1例,双侧桡骨缺如1例。 结论产前超声观测心脏“T”字形声像图特征对诊断胎儿部分型和过渡型房室间隔缺损具有重要临床价值,但应注意与冠状静脉窦形成的假象鉴别。     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。     

Prenatal diagnosis of an aorto-pulmonary window by fetal echocardiography

Congenital aorto-pulmonary window or congenital aorto-pulmonary septal defect is a rare fetal malformation usually diagnosed after birth by echocardiography and usually associated with other congenital cardiovascular abnormalities (interrupted aortic arch, ventricular septal defect, atrial septal defect, tetralogy of Fallot). The authors report the first case of prenatal diagnosis of an aorto-pulmonary window associated with a ventricular septal defect identified by fetal ultrasonography at 28 weeks of pregnancy. The diagnosis was based on the echocardiographic images of normal semilunar aortic and pulmonic valves with evidence of a septal defect between the ascending aorta and pulmonary artery. The purpose of this report is to demonstrate the feasibility of antenatal diagnosis of this fetal malformation and help professionals who would be faced with such an unexpected prenatal image.     

The role of fetal echocardiography in genetic sonography

Genetic sonography identifies between 60% and 93% of fetuses with trisomy 21. One of the reasons for the variation in sensitivity is because of the under-detection of congenital heart defects. Although congenital heart defects are present in 56% of second trimester fetuses and 44% of newborns with trisomy 21, most studies evaluating second-trimester fetuses at risk for trisomy 21 detect less than 10% of heart malformations. This review discusses an approach that allows the fetal sonographer to incorporate fetal echocardiography, based upon the examiner's level of skill and experience, when evaluating the fetus at risk for trisomy 21. The cardiovascular examination consists of three levels. In the Level I examination only noncardiac markers are evaluated for a detection rate of 60% and false-positive rate of 5.9%. The Level II examination incorporates the four-chamber view with non-cardiac markers. If the examiner can identify atrial and/or ventricular chamber disproportion, then the sensitivity is increased to 75%, with a false-positive rate of 6.4%. The Level III examination utilizes grayscale and color Doppler ultrasound to evaluate the fetal heart. If the examiner can identify ventricular septal defects, atrioventricular septal defects, pericardial effusion, tricuspid regurgitation, and chamber disproportion, then the sensitivity of genetic sonography increases to 91% with a false-positive rate of 14%. This review includes Likelihood Ratios for each of the ultrasound markers so that the examiner can compute the risk for trisomy 21 for an individual patient.     

胎儿心律失常的超声心动图检测及其临床意义

目的 探讨超声心动图检测对胎儿心律失常的诊断价值及临床意义。方法 采用超声心动图对725例胎龄16-41周临床疑诊为心律失常或存在其他异常的胎儿进行检测。结果 共检出胎儿心律失常90例。其中,期前收缩72例(房性期前收缩65例,室性期前收缩7例),心动过缓9例,心动过速6例,2:1房室传导阻滞2例,心房扑动1例。4例心动过缓胎儿并发先天性心血管畸形患者,2例在随访过程中死于宫内(尸体解剖证实为单心室伴肺动脉瓣狭窄1例,心脏横纹肌瘤1例),2例终止妊娠(尸体解剖证实为二尖瓣闭锁1例,共同房室通道1例)。1例胎龄38周心房扑动胎儿经吸氧及严密监护24h后,心律失常无缓解,立即行剖宫产术,出生后应用西地兰后心律转为窦性。其余85例胎儿心律失常均为阵发性,不伴有胎儿心脏形态、结构畸形及胎儿水肿,均足月出生,出生后听诊均未闻及心脏杂音及心律失常。结论 胎儿超声心动图是产前检查胎儿心律失常的可靠的无创性影像技术,其应用有助于早期检出并指导心律失常胎儿的处理。     

Aortopulmonary window with atrial septal defect: prenatal diagnosis, management and outcome

A case of prenatally diagnosed aortopulmonary window is reported. The mother was referred for fetal echocardiography at 26 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed an aortopulmonary septum defect close to the pulmonary artery bifurcation and a left-to-right shunt flow in systole and early diastole detected by color flow Doppler. Postnatal echocardiography confirmed prenatal diagnosis, the aortopulmonary window was a 9-mm type III aortopulmonary window. An atrial septal defect with shunt flow left to right was also found. Surgical repair was performed 4 weeks after birth, the postsurgical period was uneventful and the newborn was discharged without complications 7 days after surgery.     

Prenatal diagnosis of six major cardiac malformations in Europe--a population based study

AIM: To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. METHODS: Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries and common A-V-canal. RESULTS: There were significant differences in the proportion of cases diagnosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without prenatal ultrasound screening (no cases diagnosed prenatally in the Danish registry area). Prenatal detection rate was significantly higher for the three malformations affecting the size of the ventricles (hypoplastic left heart, tricuspid atresia, single ventricle) compared to the other three malformations (46% versus 24%, p<0.001). Time of diagnosis was late, with only one third diagnosed before 24 weeks of gestation. The risk of fetal death seems to be low. CONCLUSION: There are significant regional differences in prenatal detection rate of major cardiac malformations in Europe.     

Hypoplastic left heart syndrome: prenatal diagnosis, clinical profile, and management

We diagnosed hypoplastic left heart syndrome, generally regarded as a lethal congenital heart defect, by fetal echocardiography in 20 pregnancies in the last 5 years. The clinical profile, management, and outcome of these pregnancies were reviewed. We found a 40% association of karyotype and extracardiac malformations. Elective abortion was performed in nine pregnancies. Two of seven live-born babies had early neonatal assessment and intervention as a result of in utero diagnosis and counseling. Prolonged survival was achieved in both infants. We conclude that prenatal diagnosis of the hypoplastic left heart syndrome necessitates complete evaluation of the fetus for associated genetic and extracardiac malformations. Prenatal diagnosis of this defect provides opportunities for in depth counseling of parents and obtaining informed consent for either postnatal intervention or nonintervention before the medical and emotional complexities associated with the neonatal intensive care setting are encountered.