Diagnosis of congenital cardiac defects between 11 and 14 weeks' gestation in high-risk patients.

OBJECTIVE: To examine the feasibility of diagnosing congenital cardiac defects between 11 and 14 weeks' gestation in a high-risk population. METHODS: Fetal echocardiography was first offered at 11 to 14 weeks' gestation to all patients at risk for congenital heart defects. Echocardiography performed at 11 to 14 weeks with normal results was repeated at 14 to 16 and 20 to 24 weeks. Final diagnoses of cardiac anomalies that had been observed at 11 to 14 weeks were established at 14 to 16 weeks or later Fetal echocardiography performed at 14 to 16 weeks with normal results was repeated at 20 to 24 weeks. Ascertainment of cardiac anomalies was obtained by postnatal echocardiography or pathologic examination of the fetal heart after termination of pregnancy. Most of the examinations were performed transvaginally until 16 weeks. The transabdominal approach was used at this stage only when patients refused the transvaginal examination or because of technical difficulties. Three hundred ninety-two fetal echocardiographic examinations were performed between 11 and 14 weeks' gestation; 438 examinations were performed between 14 and 16 weeks; and 777 examinations were performed between 20 and 24 weeks. The major indications for fetal echocardiography at 11 to 14 weeks were maternal diabetes and previous pregnancy with congenital heart defects. RESULTS: Six of 7 major fetal cardiac anomalies were detected. The only major cardiac anomaly that was not detected between 11 and 14 weeks was correctly diagnosed at 22 weeks. Only 1 of 5 minor fetal cardiac anomalies was detected between 11 and 14 weeks. Another 2 minor fetal cardiac anomalies were detected at 23 weeks. Four incorrect diagnoses of minor cardiac anomalies were excluded on repeated fetal echocardiography between 20 and 24 weeks. CONCLUSIONS: The initial attempt to diagnose congenital heart defects should be offered at 11 to 14 weeks' gestation.     

Early fetal echocardiography: heart biometry and visualization of cardiac structures between 10 and 15 weeks' gestation.

OBJECTIVE: The purpose of this prospective cross-sectional study was to compile normative data about biometry of the fetal heart and great vessels between 10 and 15 weeks in 123 normal singleton pregnancies. Additionally, we investigated the different methods and the optimal examination time of early fetal echocardiography. METHODS: The interrogated parameters included total heart diameter; heart area and circumference; right and left ventricular diameter; diameter, circumference, and area of the thorax; and diameter of the aorta and pulmonary trunk. Visualization of the 4-chamber view, 3-vessel view, origin and crossover of the great arteries, aortic arch, ductus arteriosus, superior and inferior venae cavae, and pulmonary veins was analyzed, and the success rates by transvaginal sonography (TVS) and transabdominal sonography (TAS) were calculated. RESULTS: Complete evaluation of the fetal heart was impossible at 10 weeks; the total success rate increased from 45% at 11 weeks to 90% between 12 and 14 weeks and 100% at 15 weeks. Between 10 and 13 weeks, TVS was superior to TAS. At 14 weeks, both methods were similar to each other, and at 15 weeks, TAS allowed adequate visualization of all structures. Linear regression analysis showed a significant correlation between the interrogated parameters and gestational age, crown-rump length, and biparietal diameter (P < .05). The ratio of right and left ventricular diameters and the ratio of pulmonary trunk and aortic diameters were constant. CONCLUSIONS: Early fetal heart evaluation by TVS or TAS or both is reasonable and feasible. Our normative data could be helpful for understanding the normal development of the fetal heart and great arteries and for detection of cardiac defects in early pregnancy.     

Prenatal detection of congenital heart disease in southern Nevada: the need for universal fetal cardiac evaluation.

OBJECTIVE: Congenital cardiac malformations are common developmental anomalies. In the United States, congenital heart disease is the number one cause of infant mortality from congenital malformations. Prenatal diagnosis of congenital heart defects aids treatment coordination. Our aim was to evaluate prenatal detection of serious congenital heart malformations in Clark County, Nevada. METHODS: We electronically searched our research department-maintained computer database for patients with serious congenital heart disease born in Clark County between May 2003 and April 2006. We excluded patients that did not have at least 1 local prenatal ultrasound examination. All pre-natal ultrasound studies were performed in obstetric offices, radiology imaging centers, or maternal-fetal medicine specialty practices. Fetal echocardiography was performed in maternal-fetal medicine specialists' offices under the supervision of a fetal cardiologist. Pediatric cardiologists performed all postnatal echocardiographic examinations. RESULTS: During the study period, we diagnosed serious congenital heart malformations in 161 patients among a total estimated 77,000 births (2/1000). Of the 161 patients, 58 (36%) had a prenatal diagnosis, and 103 (64%) had an exclusively postnatal diagnosis. CONCLUSIONS: Standard prenatal ultrasound fails to show congenital heart disease in most fetuses.     

The use of cardiac ultrasound imaging in first-trimester prenatal diagnosis of congenital heart diseases

This study aims to explore ultrasound (US) cardiac and echocardiographic features that may enable the early diagnosis of various major congenital heart diseases (CHDs). Focusing on providing useful US tools for this assessment, high resolution of US cardiac images of various CHDs, such as hypoplastic left heart syndrome, conotruncal anomalies, and univentricular heart, were evaluated. Results show that early US detection of most major CHDs is feasible during first-trimester ultrasonography cardiac evaluation. Concerns about safety issues, findings on early fetal cardiovascular hemodynamics, and cardiac lesions that can progress during the course of pregnancy were also discussed.     

胎儿先天性心脏病的超声诊断及分型

目的 探讨胎儿心血管畸形的常见类型、合并畸形及分型价值.方法 行胎儿超声心动图检查孕妇3201例,明确诊断胎儿先天性心脏病239例,其中8例系双胎妊娠中的一胎存在心血管畸形.胎儿出生后半年内进行超声复查.结果 239例中检出复杂先天性心脏病155例,其中检出率较高病种依次为单心室59例、右室双出口29例、房室间隔缺损19例、法洛四联症或五联症12例、永存动脉干11例、右心发育不良综合征6例、完全性大血管转位6例.239例中引产100例,其中病理证实41例;出生16例;待产及失访123例.结论 胎儿心血管畸形以复杂和多种畸形并存多见;本组胎儿先天性心脏病检出率7.47％,复杂先天性心脏病占64.85％.根据胎儿先天性心脏病类型,确定出生后能否手术、矫治术式和预后综合评估分为可根治型、可治姑息型和无法治疗型,这一新的理念将有助于孕妇及家庭作出合理的抉择.     

Indications for fetal echocardiography from a tertiary-care obstetric sonography practice

PURPOSE: The present study was conducted to evaluate the indications for fetal echocardiography in a tertiary-care obstetric sonography practice and to determine the incidences of confirmed congenital heart disease for each primary indication. METHODS: A retrospective analysis of all pregnant women referred to a pediatric cardiology unit for fetal echocardiography by the tertiary-care sonography unit over a 2-year period was performed. The primary indications for referral for fetal echocardiography were obtained from the sonographers' reports. Outcome data were extracted from the fetal echocardiograms, postnatal echocardiograms or pathology and autopsy reports, and patient medical records. RESULTS: Of 6,002 pregnant women who had undergone prenatal sonographic examination during the study period, 275 (4.6%) had been subsequently referred for fetal echocardiography. The most common primary indication for referral had been abnormal cardiac findings on the prenatal sonographic examination, which had been present in 64 (23.3%) of the 275 cases. In 44 (69%) of those 64 cases, congenital heart disease had been confirmed. Among the 211 patients who had had normal cardiac findings on prenatal sonography but had been referred for fetal echocardiography owing to other primary indications, congenital heart disease had been confirmed in only 7 cases (3.3%). CONCLUSIONS: An abnormal cardiac finding during prenatal sonographic examination is a common primary indication for fetal echocardiography and is more useful for identifying congenital heart disease than are other risk factors. Careful routine cardiac screening during routine prenatal sonographic examination may facilitate further investigation and treatment.     

Fetal anatomic and functional echocardiography: a 5-year review.

OBJECTIVE: To assess the concordance of fetal and postnatal echocardiography when congenital heart disease is suspected prenatally. METHODS: The perinatology and pediatric cardiology ultrasound databases were searched for fetal echocardiograms obtained between June 1995 and June 2000. All cases with abnormal fetal echocardiographic findings in which postnatal echocardiography was performed were included. A perinatologist, pediatric cardiologist, or both interpreted all fetal echocardiograms; a pediatric cardiologist interpreted all postnatal echocardiograms. The fetal and postnatal echocardiograms were compared for the presence of 25 specific components. The kappa statistic was calculated to evaluate concordance between fetal and postnatal studies. Positive and negative predictive values for fetal studies were calculated under the assumption that the postnatal study yielded the correct diagnosis. RESULTS: Sixty-five patients were included. Congenital heart disease ranged from an isolated atrial septal defect to complex disease. Images adequately showed all 25 components in more than 85% of the fetal studies. Concordance between fetal and postnatal echocardiograms was excellent (kappa > 0.75) for 20 of the 25 components evaluated. Four of the remaining 5 components had fair concordance (kappa = 0.4-0.75) between fetal and postnatal studies. Structural abnormalities without excellent concordance included partial anomalous pulmonary venous return, secundum atrial septal defects, and heart malposition. Concordance between fetal and postnatal right and left ventricular function was fair; however, differences may have been due to physiologic changes that occurred after birth rather than to inferior diagnostic accuracy of fetal echocardiography. CONCLUSIONS: Fetal echocardiography is an extremely useful and accurate clinical tool for prenatal and postnatal evaluation of congenital heart disease.     

大动脉左转位先天性心脏病二维超声心动图图像特征及规律性研究

目的 :探索大动脉左转位先天性心脏病(先心病)二维超声心动图(2DE)特征及规律性。材料和方法 :应用2DE检查228例大动脉左转位先心病 ,男139例 ,女89例 ,年龄6个月～47岁(平均11 04岁)。208例有心血管造影资料 ,147例均经手术证实。结果 :228例大动脉左转位2DE胸骨旁短轴切面上两条大动脉呈左前右后排列的“双环状”回声 ,合并8种先心病。208例肺动脉狭窄(PS)位于后方的环状回声内径明显小于位于前方环状回声内径 ,20例肺动脉高压(PH)14例位于后方的环状回声内径大于位于前方的环状回声内径 ,6例位于后方的环状回声内径与前方的环状回声内径大致相等。结论 :大动脉左转位2DE胸骨旁大动脉短轴切面显示左前右后排列的“双环状”图像特征 ,常合并8种先心病 ;根据2DE“双环状”回声内径比较可判定是PS还是PH。     

Trends in fetal echocardiography and implications for clinical practice: 1985 to 2003.

OBJECTIVE: The purpose of this study was to determine whether patterns of referral for fetal echocardiography (FE) and the subsequent yield for structural congenital heart disease (CHD) have changed between 1985 and 2003. METHODS: All FE performed between 1985 and 2003 at Yale-New Haven Hospital was reviewed. The primary indication for study and the presence of structural CHD were recorded, and data were analyzed for trends. Linear regression with Pearson coefficient calculation and Mantel-Haenszel chi(2) analysis were performed (P < .05 significant). RESULTS: Between 1985 and 2003, 10,806 patients had FE at Yale-New Haven Hospital, and 774 cases of structural CHD were detected. The annual number of studies and rate of detected structural CHD remained constant through the study period. There was a significant increase in the proportion of studies for diabetes, maternal structural CHD, suspicious 4-chamber heart, and family history of cardiac disease. There was a significant decrease in the proportion of studies for a previous child with structural CHD, cardiac teratogen exposure, other fetal anomalies, aneuploidy, fetal arrhythmia, and nonimmune hydrops. The percentage of structural CHD detected by indication remained constant through the study period. Subgroup analysis of diabetes revealed an increase in class B diabetes, while classes C and D remained stable. CONCLUSIONS: This is one of the largest series of FE and suggests that the pattern of indications has changed since 1985. Specifically, referral for diabetes (mostly class B) has increased without a change in yield of structural CHD by indication for sonography. The changing referral patterns reflect a change in obstetric demographics and has implications for obstetric care.     

胎儿心脏三血管气管平面在先天性心脏病筛查中的价值

目的 探讨胎儿三血管气管平面的声像图特点及其筛查胎儿先天性心脏病的价值。方法 回顾性分析2003年4月至2005年4月1212例接受产前胎儿心脏超声筛查孕妇资料，取胎儿心脏检查的常规6个标准切面，然后在四腔心切面的基础上缓慢平行向胎儿头侧移动探头即可显示上纵隔横切面，即三血管气管平面，再叠加彩色多普勒血流显像，观察各房室及大动脉血流分布和血流方向。结果 1212例胎儿超声心动图检出胎儿心脏结构异常47例，22例合并心外畸形。33例在本院引产，20例尸检，其中18例尸检与产前超声诊断相符，1例单心房单心室并大动脉位置正常误诊为单心房单心室并大动脉转位，1例单心房单心室并永存动脉干误诊为完全性心内膜垫缺损并永存动脉干。15例胎儿抽脐带血检查染色体，3例染色体异常。结论 三血管气管平面在筛查胎儿大动脉和心室流出道异常的先天性心脏病中有重要作用。     

超声心动图评价动脉导管对胎儿先天性心脏病的诊断价值

目的 探讨超声心动图评价动脉导管在胎儿先天性心脏病中的诊断价值.方法 以三节段诊断法进行胎儿超声心动图检查,依胎位不同在不同切面检查动脉导管,切面包括动脉导管与右肺动脉形成的"V"形征切面,动脉导管与主动脉弓峡部形成的"V"形征切面,动脉导管与左、右肺动脉形成的"三指征"切面,左肺动脉、动脉导管、主动脉弓峡部形成的"Z"形征切面,测量动脉导管的内径及流速.结果 检出先天性心脏病胎儿31例,13例经尸体解剖得到证实,其中动脉导管狭窄者4例,均为右心梗阻性疾病;动脉导管增宽3例,均为左心梗阻性疾病;动脉导管内测及反向血流者2例;动脉导管流速增高者5例,其中包括4例右心梗阻性疾病、1例左心梗阻性疾病,5例胎儿动脉导管未见异常;1例胎儿动脉导管缺如.结论 超声心动图评价动脉导管是筛查胎儿先天性心脏病的重要内容,有助于快速确定诊断.

Abstract：

Objective To explore the value of ductus arteriosus in ultrasound diagnosis of fetal congenital heart disease by echocardiography. Methods The fetal echocardiography was performed with three segments diagnosis method. According to the fetal position, the ductus arteriosus was examined in different sections which include the "V" shape sign section formed by ductus arteriosus and right pulmonary artery,the "V" shape sign section formed by ductus arteriosus and the gorge of aortic arch,the three fingers sign section formed by ductus arteriosus,left and right pulmonary artery,the "Z" shape sign section formed by left pulmonary artery, ductus arteriosus and the gorge of aortic arch. The flow velocity and the inner diameter of the ductus arteriosus were measured. Results Thirty-one cases with congenital heart disease were evaluted. Thirteen cases were approved by autopsy. Among those fetus, 4 cases went with ductus arteriosus stenosis and they all accompanied with right heart obstructing disease,3 cases went with dilated ductus arteriosus and they all accompanied with left heart obstructing disease. Retrograde were explored in 2 fetus. The flow velocity of 5 fetus ductus arteriosus were higher than the normal fetus and 4 cases of them with right heart obstruction, 1 cases with left heart obstruction. Five fetal ductus arteriosus were normal. One fetal ductus arteriosus was absent. Conclusions Assessant of ductus arteriosus by echocardiography is an important content in screening fetal congenital heart disease. It can help us to diagnose quickly.     

The use of echocardiography in congenital heart surgery and intervention

Echocardiography has revolutionized the management of pediatric and adult heart disease, especially in the diagnosis of congenital heart defects. Although the early methods of echocardiography (M-mode and Doppler imaging) were limited in their ability to define the defect in question, the advent of 2D, and now 3D, imaging have clearly equaled or surpassed traditional methods of diagnosis (e.g., noninvasively obtained plain chest radiographs and electrocardiograms) and invasive tests (e.g., cardiac catheterization and angiography). Confidence in the images obtained using echocardiography has continued to increase, with many patients referred for corrective or palliative surgery on the basis of echocardiographic imaging alone. Echocardiography has eliminated the need, decreased the frequency, or improved the timing or performance of invasive studies in other patients. Specifically, it is used to definitively diagnose a cardiac defect and any associated lesions. It will also provide quantitative information for the assessment of the hemodynamic severity of the lesion. This review outlines the manner in which echocardiography is used to plan and guide congenital heart surgery or intervention, along with some of the advantages and disadvantages (pitfalls) of which to be aware. The use of echocardiography within the cardiac catheterization or surgical theater, as well as in the intensive care unit, is discussed, as is the use of echocardiography as a means of monitoring recovery and follow-up following cardiac surgery. Finally, the authors discuss who is best qualified or suited to perform these tests.     

Real-time 3-dimensional fetal echocardiography with an instantaneous volume-rendered display: early description and pictorial essay.

OBJECTIVE: Random fetal motion, rapid fetal heart rates, and cumbersome processing algorithms have limited reconstructive approaches to 3-dimensional fetal cardiac imaging. Given the recent development of real-time, instantaneous volume-rendered sonographic displays of volume data, we sought to apply this technology to fetal cardiac imaging. METHODS: We obtained 1 to 6 volume data sets on each of 30 fetal hearts referred for formal fetal echocardiography. Each volume data set was acquired over 2 to 8 seconds and stored on the system's hard drive. Rendered images were subsequently processed to optimize translucency, smoothing, and orientation and cropped to reveal "surgeon's eye views" of clinically relevant anatomic structures. Qualitative comparison was made with conventional fetal echocardiography for each subject. RESULTS: Volume-rendered displays identified all major abnormalities but failed to identify small ventricular septal defects in 2 patients. Important planes and views not visualized during the actual scans were generated with minimal processing of rendered image displays. Volume-rendered displays tended to have slightly inferior image quality compared with conventional 2-dimensional images. CONCLUSIONS: Real-time 3-dimensional echocardiography with instantaneous volume-rendered displays of the fetal heart represents a new approach to fetal cardiac imaging with tremendous clinical potential.     

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。     

Collaborative Study on 4‐Dimensional Echocardiography for the Diagnosis of Fetal Heart Defects

Objective. Congenital anomalies are the leading cause of infant mortality in the United States, and congenital heart defects (CHDs) are the most common type of birth defects. Recently, 4‐dimensional ultrasonography (4DUS) with spatiotemporal image correlation (STIC) has been introduced for fetal echocardiography. Accumulating evidence indicates that 4DUS with STIC may facilitate the examination of the fetal heart. Our objectives were to determine the accuracy of 4DUS for the diagnosis of CHDs and the agreement among centers. Methods. This study included 7 centers with expertise in 4D fetal echocardiography. Fetuses with and without confirmed heart defects were scanned between 18 and 26 weeks, and their volume data sets were uploaded onto a centralized file transfer protocol server. Intercenter agreement was determined using a κ statistic for multiple raters. Results. Ninety volume data sets were randomly selected for blinded analysis. Overall, the median (range) sensitivity, specificity, positive and negative predictive values, and false‐positive and ‐negative rates for the identification of fetuses with CHDs were 93% (77%–100%), 96% (84%–100%), 96% (83%–100%), 93% (79%–100%), 4.8% (2.7%–25%), and 6.8% (5%–22%), respectively. The most frequent CHDs were conotruncal anomalies (36%). There was excellent intercenter agreement (κ = 0.97). Conclusions. (1) Four‐dimensional volume data sets can be remotely acquired and accurately interpreted by different centers. (2) Among centers with technical expertise, 4DUS is an accurate and reliable method for fetal echocardiography.     

Echocardiography in early pregnancy: review of literature.

OBJECTIVE: First-trimester transvaginal sonography is a widely used technique to examine the fetus early in pregnancy. The aim of this review was to explore the possibilities of examining the fetal heart at this early stage of pregnancy. METHODS: With the use of a computerized database (PubMed, US National Library of Medicine, Bethesda, MD), articles on first-trimester echocardiography were retrieved. Furthermore, the cited references of the studied articles were used to find additional articles. RESULTS: In the analyzed articles, an increase in visualization rates of the 4-chamber view and the outflow tracts was shown in the last decade, with visualization rates of greater than 90% at 13 weeks' gestation. The different cardiac defects that are shown in first-trimester fetuses are mainly defects involving the 4-chamber view, indicating that defects solely affecting the outflow tracts are difficult to diagnose in the first trimester of pregnancy. The sonographic assessment of the fetal heart between 14 and 18 weeks' gestation has been described. The literature, however, has not shown clear advantages of performing fetal echocardiography during this period compared with transvaginal sonography at 13 weeks' gestation. CONCLUSIONS: First-trimester echocardiography is a promising technique, which can be of considerable value for patients at risk of having offspring with cardiac defects. This technique is, however, currently limited to a few specialized centers.