Partial and total anomalous pulmonary venous connection in the fetus: two-dimensional and Doppler echocardiographic findings.

OBJECTIVE: Prenatal diagnosis of total (TAPVC) or partial (PAPVC) anomalous pulmonary venous connection in isolation or associated with other cardiac disease is important for appropriate prenatal counseling and perinatal management. We sought to assess the echocardiographic clues to the fetal diagnosis of TAPVC and PAPVC in a cohort of affected fetuses. METHODS: We retrospectively reviewed 29 fetal echocardiograms performed in 16 pregnancies with fetal TAPVC or PAPVC, systematically analyzing heart chamber size, presence of a confluence behind the left atrium or of a vertical vein, and Doppler flow patterns. RESULTS: Prenatal diagnosis was made at a mean gestational age of 27 +/- 7 weeks. TAPVC was found in 11 cases; five cases for each of supracardiac and infracardiac types and one mixed type. PAPVC was diagnosed in five fetuses, four of which had scimitar syndrome. Ten fetuses had an additional major cardiac defect, including hypoplastic left heart syndrome and right atrial isomerism. In three cases the prenatal diagnosis was only made at follow-up assessment. Among TAPVC cases, visualization of a confluence behind the left atrium (10/11) and a vertical vein (11/11) were the most consistent echocardiographic clues. Dextrocardia and a small right pulmonary artery suggested scimitar syndrome. The diagnosis was confirmed postnatally or at autopsy in 12 cases. In six fetuses with TAPVC and obstruction confirmed postnatally, continuous turbulent flow in the vertical vein and monophasic continuous flow in the pulmonary veins were demonstrated by color and spectral Doppler. CONCLUSIONS: Fetal echocardiography permits prenatal diagnosis of TAPVC or PAPVC. Spectral and color Doppler provide clues to the presence of an obstructed pulmonary venous pathway.     

产前超声诊断胎儿孤立完全性肺静脉异位连接

目的探讨本中心32例胎儿孤立完全性肺静脉异位连接(TAPVC)产前超声的主要特征。方法选择我院经产前超声心动图检出孤立TAPVC病例32例,经出生后检查或尸检证实诊断,回顾性分析超声检查的图像和结果。结果本研究胎儿共诊断TAPVC 75例,孤立TAPVC 35例。单发病例诊断时孕周为22~38周,平均(27.5±4.5)周,年龄为21~38岁,平均(28.0±4.0)岁,其中引产23例,12例出生。出生后证实诊断的9例,假阳性3例。出生的9例TAPVC病例8例在新生儿期手术治疗,平均手术年龄8.6d,平均随访40.6个月(18~75个月)。引产病例由尸检证实诊断。总结可作为超声诊断特征的直接征象和间接征象:包括肺静脉共同腔、肺静脉回流完整途径(是否存在梗阻)、右心优势、左房后壁-降主动脉的距离、引流入血管(腔静脉和冠状窦)扩张等。结论胎儿孤立TAPVC产前超声具有特征性表现。产前系统检查可对TAPVC的分型及梗阻做出准确的判断,为孕妇制定最佳的生产计划和手术方案。     

Two- and four-dimensional echocardiography with B-flow imaging and spatiotemporal image correlation in prenatal diagnosis of isolated total anomalous pulmonary venous connection.

OBJECTIVES: To explore whether the use of four dimensional (4D) ultrasound examination with B-flow imaging and spatiotemporal image correlation (STIC) can supply additional information with respect to two-dimensional (2D) gray-scale and color Doppler echocardiography in the prenatal characterization of isolated total anomalous pulmonary venous connection (TAPVC). METHODS: The study population comprised a group of three TAPVC fetuses that had been examined exclusively by conventional echocardiography, and a group of four additional cases initially identified by conventional echocardiography and examined further by 4D ultrasonography; a thorough postnatal work-up was available for all fetuses. RESULTS: At our center, isolated TAPVC was found in seven of 1040 fetuses with cardiac defects (0.67%). Anomalous drainage was supracardiac to the innominate vein in three cases, cardiac to the coronary sinus in two, and infracardiac to the portal vein in the remaining two cases. An evident asymmetry between left heart and right heart structures was observed in 4/7 cases. The confluence of the anomalous pulmonary veins (PVs) was visualized in 4/7 cases and the connecting vertical vein was identified in 3/5 cases at 2D echocardiography. 4D ultrasound imaging with B-flow imaging and STIC clearly visualized the anomalous PV confluence and the draining vertical vein in all four cases examined. CONCLUSION: 2D and color Doppler echocardiography appears to diagnose reliably TAPVC, albeit with some limitations in thorough assessment of the pathology, depending on the anatomy of the defect, on the technical adequacy of the equipment used and on the experience of the operator. 4D ultrasound examination with B-flow imaging and STIC is apparently able to facilitate identification of the anatomical features of TAPVC, thus supplying additional information over that provided by 2D fetal sonography.     

超声产前诊断胎儿完全性肺静脉畸形引流的临床研究

目的 探讨产前超声诊断胎儿完全性肺静脉畸形引流的临床价值.方法 回顾性分析我院诊断的10例胎儿完全性肺静脉畸形引流的产前超声表现,并与病理结果进行对照.结果 10例胎儿产前超声诊断完全性肺静脉畸形引流,7例终止妊娠后病理解剖证实,失访3例.7例经解剖证实的完全性肺静脉畸形引流病例产前超声检查均可见左心房显著缩小,彩色多普勒不能显示任何一支肺静脉血流引流入左心房,其中5例显示共同肺静脉腔并测及高速静脉血流频谱、引流途径管腔增宽,3例合并其他心外畸形.结论 产前超声对胎儿完全性肺静脉畸形引流的诊断具有重要的临床价值.     

胎儿超声心动图在产前诊断完全型肺静脉异位引流中的应用

目的探讨完全型肺静脉异位引流（TAPVC）胎儿超声心动图特征及产前诊断临床意义。方法对2010年1月至2013年1月在南京医科大学附属苏州医院超声中心经产前及产后超声心动图或引产后尸检确诊的13例TAPVC胎儿超声心动图特征及产前诊断的临床意义进行总结分析。结果产前超声诊断12例TAPVC,其中心上型7例,心下型3例,心内型2例。超声表现为：胎儿左心稍小于右心,卵圆孔较大,心房水平右向左分流丰富,左心房与降主动脉距离增宽,左心房顶部光滑,无肺静脉开口,其后方可见共同肺静脉干,追踪共同肺静脉干走行可显示引流部位,相应引流部位血管内径扩张。产前超声漏诊1例,经产后超声心动图确诊为心内型TAPVC。13例TAPVC胎儿中3例为单发畸形（3/13）,10例合并其他心内或心外畸形（10/13）。结论 TAPVC有特征性胎儿超声心动图表现,胎儿超声心动图是诊断TAPVC的可靠方法;产前诊断TAPVC有利于孕妇作出优生优育选择,使胎儿出生后得到及时治疗。     

超声心动图诊断胎儿完全型肺静脉异位引流

目的 探讨胎儿完全型肺静脉异位引流(TAPVC)产前诊断线索及超声心动图特征.方法 回顾性分析于我院经超声诊断并经尸体检查或出生后超声心动图证实的14胎TAPVC胎儿的二维及多普勒图像的特征.结果 产前诊断12胎TAPVC,其中心上型9胎,心内型2胎,心下型1胎.TAPVC的产前诊断线索及超声心动图特征:二维超声四腔心切面未显示肺静脉角,左心房后壁光滑;左心房后壁与降主动脉间距离增大;可见共同肺静脉腔和垂直静脉.产前超声心动图漏诊2胎,经出生后超声心动图证实均为心内型TAPVC.14胎TAPVC中,4胎伴肺静脉引流途径梗阻.结论 胎儿超声心动图可诊断TAPVC并准确分型;脉冲和彩色多普勒超声可显示肺静脉回流途径梗阻.     

Prenatal diagnosis of total anomalous pulmonary venous connection to the portal vein associated with right atrial isomerism.

We report the prenatal diagnosis of total anomalous pulmonary venous connection to the portal system in a 20-week fetus with right atrial isomerism. The apex of the fetal heart pointed to the left, the fetal stomach was on the right, there was a common atrioventricular valve, the left ventricle was small and the abdominal aorta and inferior vena cava were on the left side; all these features were suggestive of right atrial isomerism. An anomalous vein was connected to the portal vein which ascended above the diaphragm and ended in a confluence of pulmonary veins, posterior to the common atrium. Color Doppler imaging helped confirm the diagnosis of total anomalous pulmonary venous connection. The prenatal findings were confirmed on autopsy.     

产前超声心动图与解剖铸型观察胎儿完全性肺静脉异位引流

目的 采用产前超声心动图与解剖铸型观察胎儿完全性肺静脉异位引流（TAPVC）。方法 纳入9胎经产前超声心动图诊断为TAPVC的胎儿,对引产后3胎标本进行解剖、6胎标本制作胎儿心脏铸型,观察胎儿静脉回流特点及合并心内外畸形。结果 9胎TAPVC中,66.67%（6/9）为心上型,33.33%（3/9）为心下型。胎儿超声四腔心切面见左心房缩小,未见静脉与左心房相连;三血管气管切面见左心房后方赘余血管;6胎心上型TAPVC中,4胎肺静脉汇入右上腔静脉、2胎肺静脉汇入左上腔静脉;3胎心下型TAPVC肺静脉均汇入门静脉。9胎均合并心房异构综合征,8胎（8/9,88.89%）合并单心室,7胎（7/9,77.78%）合并肺动脉狭窄,合并单心房及完全型心内膜垫缺损各4胎（4/9,44.44%）;5胎（5/9,55.56%）合并永存左上腔静脉,合并双下腔静脉及左头臂静脉主动脉弓下走行各1胎（1/9,11.11%）;1胎（1/9,11.11%）合并膈疝。结论 TAPVC胎儿多合并心内外畸形及体静脉异常。产前超声具有重要诊断价值,解剖铸型有助于认识TAPVC胎儿血管走行及静脉引流途径。     

Color Doppler flow mapping in the ultrasound diagnosis of total anomalous pulmonary venous connection

With color Doppler flow mapping (CFM), we studied 16 children with total anomalous pulmonary venous connection (TAPVC), which was confirmed at cardiac catheterization, surgery, or autopsy in all but one case. The drainage was supracardiac in nine children, cardiac in four, and infracardiac in three. Obstruction to pulmonary venous return was present in seven children. Increased variance, reflecting disturbed blood flow, as well as increased velocities and aliasing were present in all patients. In patients without obstruction turbulence was present in the right atrium and throughout the common pulmonary venous structures. In patients with obstruction a discrete site of increased turbulence and velocity was identified at the site of obstruction. CFM allows rapid differentiation between normal and abnormal venous and arterial structures in TAPVC. In patients suspected of having TAPVC with obstruction, CFM complemented by pulsed Doppler facilitates the determination of the site of obstruction. CFM allows a more rapid appreciation of the anatomy in TAPVC than can be achieved by two-dimensional imaging alone.     

彩超观察胎儿肺静脉在产前二级筛查中的应用

目的探讨彩超观察胎儿肺静脉在产前二级筛查中的应用价值。方法对113例妊娠20～34周孕妇进行常规胎儿产前彩超筛查,重点观测胎儿肺静脉及其血流参数:S波(心室收缩期峰值流速)、D波(心室舒张期峰值流度)、A波(心房收缩期流速),计算S/D值和PVI值〔峰值血流指数,PVI=(S-A)/D〕。将其中100例正常胎儿列入对照组(A组),对比分析其4条肺静脉血流参数;将13例产前彩超筛查有先天性心脏病(CHD)的胎儿列入实验组(B组),比较两组的右下肺静脉血流参数。结果 A组4条肺静脉的S波、D波、S/D及PVI差异均有统计学意义(P<0.05),多数A波表现为正向波,但差异无统计学意义(P>0.05)。B组与A组S波、D波及S/D无显著差异(P>0.05),B组A波均值反转,与A组比较差异显著(P<0.05),PVI明显高于A组(P<0.05)。结论观测肺静脉A波、PVI可作为CHD产前筛查的一项指标。在测量肺静脉血流参数时应选取某一条固定的肺静脉进行测量。     

In utero diagnosis of obstructed supracardiac total anomalous pulmonary venous connection in a patient with right atrial isomerism and asplenia.

We describe a rare case of right atrial isomerism, levocardia, right-side stomach, obstructed supracardiac total anomalous pulmonary venous connection, double outlet right ventricle with complete atrioventricular septal defect and absent spleen. From the pulmonary venous confluence behind the atrium an ascending as well as a descending vertical vein communicated with the systemic venous system in the supracardiac as well as the infracardiac position. The pulsed and color Doppler examination of the individual pulmonary veins as well as of the vertical vein helped in making the diagnosis of obstructed total anomalous pulmonary venous connection. The diagnosis was made by fetal echocardiographic examination at 22 weeks of gestation and confirmed on postnatal echocardiography, cardiac catheterization, and at surgery.     

Simultaneous Doppler recording of the pulmonary artery and vein: a new technique for the evaluation of a fetal arrhythmia

We describe a new technique to evaluate cardiac rhythm using color and pulsed Doppler ultrasonography to identify and record pulmonary arterial and venous waveforms. Fifty fetuses were examined during the second and third trimesters of pregnancy. Simultaneous pulsed Doppler recording of the pulmonary artery and vein was obtained in 100% of fetuses between 15 and 40 weeks' gestation. Atrial systole was identified from the pulmonary vein and was manifested by an interruption of venous flow. Ventricular systole was manifested by a sharp peak that returned toward the baseline before it continued through the duration of systole as a lower-velocity waveform. This technique has the following advantages: (1) the lung parenchyma is easily accessible, irrespective of fetal position; (2) the pulmonary arteries and veins are adjacent to each other as they enter and exit the lung, thus making it easy to simultaneously obtain Doppler recordings of these vessels; (3) the pulsed Doppler waveform has an appearance similar to an electrocardiogram.     

Low-frequency high-definition power Doppler in visualizing and defining fetal pulmonary venous connections

Purpose

The use of low-frequency high-definition power Doppler in assessing and defining pulmonary venous connections was investigated.

Methods

Study A included 260 fetuses at gestational ages ranging from 18 to 36 weeks. Pulmonary veins were assessed by performing two-dimensional B-mode imaging, color Doppler flow imaging (CDFI), and low-frequency high-definition power Doppler. A score of 1 was assigned if one pulmonary vein was visualized, 2 if two pulmonary veins were visualized, 3 if three pulmonary veins were visualized, and 4 if four pulmonary veins were visualized. The detection rate between Exam-1 and Exam-2 (intra-observer variability) and between Exam-1 and Exam-3 (inter-observer variability) was compared. In study B, five cases with abnormal pulmonary venous connection were diagnosed and compared to their anatomical examination.

Results

In study A, there was a significant difference between CDFI and low-frequency high-definition power Doppler for the four pulmonary veins observed (P < 0.05). The detection rate of each pulmonary vein when employing low-frequency high-definition power Doppler was higher than that when employing two-dimensional B-mode imaging or CDFI. There was no significant difference between the intra- and inter-observer variabilities using low-frequency high-definition power Doppler display of pulmonary veins (P > 0.05). The coefficient correlation between Exam-1 and Exam-2 was 0.844, and the coefficient correlation between Exam-1 and Exam-3 was 0.821. In study B, one case of total anomalous pulmonary venous return and four cases of partial anomalous pulmonary venous return were diagnosed by low-frequency high-definition power Doppler and confirmed by autopsy.

Conclusions

The assessment of pulmonary venous connections by low-frequency high-definition power Doppler is advantageous. Pulmonary venous anatomy can and should be monitored during fetal heart examination.

     

Perinatal three-dimensional color power Doppler ultrasonography of vein of Galen aneurysms.

OBJECTIVE: To present the prenatal and postnatal three-dimensional color power Doppler ultrasonographic features in cases of vein of Galen aneurysmal malformation. METHODS: Prenatal three-dimensional color power Doppler ultrasonography was used to image the neurovascular malformations in 3 fetuses with vein of Galen aneurysms and in unaffected control fetuses at the same gestational age. Postnatal transfontanel three-dimensional power Doppler ultrasonography was also performed in the third affected case and in an unaffected control neonate. The feeding and drainage vessels were analyzed in the three-dimensional rendering mode. RESULTS: The first case was complicated by porencephaly and fetal heart failure, and the pregnancy was terminated. The other 2 cases were uncomplicated prenatally, but 1 of the infants died after aneurysmal embolization due to acute cerebral ischemia. The angioarchitecture of the arteriovenous fistula was characterized in greater detail by three-dimensional color power Doppler ultrasonography than by two-dimensional ultrasonography, especially regarding the anatomic features of the feeding and drainage vessels and their connections with the dilated vein of Galen. CONCLUSIONS: Three-dimensional color power Doppler ultrasonography provided detailed images of the aneurysmal malformation and its vascular connections. Further studies are needed to correlate three-dimensional vascular imaging patterns with outcome.     

中孕期大畸形筛查漏诊完全性肺静脉异位引流一例

胎儿期间,因胎儿心脏较小,心率较快,产前常规超声对TAPVC的诊断非常困难,只有在左房后方形成较为明显的肺总静脉,产前超声才较容易发现[3],所以一般产前常规超声容易漏诊。特别是最为重要的中孕大畸形筛查期间,假如超声检查图像不规范,也比较容易漏诊。 总结分析漏诊TAPVC原因可能有以下几种：1.胎儿期间因特殊的血流动力学影响,左右心房及心室基本对称,没有出现明显的右心房扩大,左心房缩小等较为明显的间接心脏改变。2.左房后方肺静脉与左心房存在空间的重叠,容易误认为肺静脉角存在,而认为肺静脉血流引流至左房,导致对TAPVC的漏诊。3.彩色多普勒技术应用不规范,通常情况下,将彩色血流速度标尺下降至 20 cm/s 左右,以便能更好地观察肺静脉血流。假如标尺过高,容易屏蔽低速肺静脉血流,而导致漏诊的发生。4.超声筛查时,技术不规范,切面不标准,左心房后方明显光滑,未仔寻找其明确原因,而导致漏诊的发生[4]。本例胎儿中孕期筛查图像,心脏图像较小,未进行充分放大,彩色标尺过高,未显示明显肺静脉血流,也未明显看到明显的肺静脉角,所得导致漏诊,误诊的发生。随着产前超声图像的标准化管理,完全性肺静脉异位引流得到了越来越多的关注,检出率也有了明显的提高。     

A Simple Rule for Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return

The objective of this series was to describe a simple rule for prenatal diagnosis of total anomalous pulmonary venous return (TAPVR). Fourteen fetuses had a prenatal diagnosis of TAPVR by the simple rule, including the following components: (1) the major criterion, which was the absence of a connection between the pulmonary vein and the left atrium; and (2) at least 1 of the following minor criteria: (a) the presence of a vascular confluence behind the atria, (b) abnormal spectral Doppler waveforms in the pulmonary veins, (c) a smooth posterior wall of the left atrium, (d) increased retroatrial space, (e) a dilated coronary sinus (cardiac type), (f) a dilated superior vena cava or brachiocephalic vein, and (g) an additional vessel on the 3‐vessel/3‐vessel and trachea view or a vertical descending vein. All were accurately diagnosed, and none were missed by the diagnosis. In summary, the simple rule described is helpful in increasing the number of accurate prenatal diagnoses of TAPVR.     

产前胎儿超声心动图常规及系统筛查的临床应用研究

目的研究产前彩色多普勒胎儿超声心动图（FECG）在一般胎儿畸形常规筛查及心脏病高危胎儿和心脏畸形胎儿系统筛查中的临床应用。方法2004年1月至2006年12月对12900例胎儿进行常规胎儿超声心动图筛查（四腔心切面,左、右室流出道切面及主动脉弓、动脉导管弓切面）,其中对心脏病高危胎儿320例进行系统胎儿超声心动图检查（顺序分段法并适当配合彩色多普勒及脉冲多普勒超声检查）。以引产后尸解或生后ECG作为对照标准。结果终止妊娠胎儿尸解和生后ECG检查证实胎儿先天性心脏病（CHD）58例,占0.45%,漏诊5例;敏感性91.38%,准确性99.35%。结论胎儿超声心动图常规及系统诊断技术是诊断胎儿CHD较完善、可靠的方法,可明显提高胎儿CHD诊断的敏感性,已成为产前筛选CHD和指导干预的重要方法。     

Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.     

Prenatal diagnosis of intrapulmonary arteriovenous malformation: sonographic and pathomorphological findings.

Vessel malformations, which are very rare, can be diagnosed prenatally using color Doppler sonography. We present a case of a fetus which, at first prenatal presentation at 27 weeks, was diagnosed as having an intrapulmonary arteriovenous malformation. On the basis of the gray-scale sonographic findings of cardiomegaly and dilatation of the right pulmonary vein and right pulmonary artery, color Doppler sonography was performed which identified an arteriovenous malformation of the right lung. By means of pulsed Doppler sonography it was possible to determine the hyperdynamic blood circulation in the incoming and outgoing vessels of the vascular malformation: right pulmonary artery peak systolic velocity = 90 cm/s and end-diastolic velocity = 30 cm/s; right pulmonary vein peak systolic velocity = 60 cm/s and end-diastolic velocity = 30 cm/s. The fetus went on to develop hydrops as the result of an arteriovenous valve insufficiency. At 30 weeks' gestation a Cesarean section was performed and the neonate died due to respiratory and hemodynamic problems during catheter insertion. The autopsy provided pathoanatomical confirmation of the prenatal diagnosis of an arteriovenous malformation of the right lung. There was no evidence of hereditary hemorrhagic telangiectasia.     

彩色多普勒超声对胎儿心脏病的诊断研究

目的 探讨彩色多普勒超声对胎儿心脏病的产前诊断价值。方法 随机对6000例孕妇进行胎儿超声心动图检查。结果 产前检出30例胎儿心脏病，16例经引产尸体解剖证实，产后彩超检查证实14例。声像图显示四腔心不对称者占30．0％（9／30），有室间隔缺损者占73．3％（22／30）。结论 常规胎儿心动图检查对产前检出胎儿心脏病具有重要的临床价值；四腔心不对称和室间隔缺损是胎儿心脏病最主要的声像图表现。