Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study

OBJECTIVES—To analyse the evolution and outcome in utero and after birth of infants with a fetal diagnosis of congenital heart disease.
DESIGN—Inclusion criteria were the fetal diagnosis of congenital heart disease, confirmed postnatally or postmortem, and a complete follow up in utero and after birth.
SETTING—20 centres operating prenatal echocardiographic screening.
PATIENTS—847 cases were included in the study. Gestational age at diagnosis ranged from 15-39 weeks; in 370 cases (43.7%) the diagnosis was made before 24 weeks' gestation.
RESULTS—245/847 cases (28.9%) were terminated during pregnancy, 227 following early diagnosis; 128/245 cases (52.2%) had associated anomalies and 117/245 (47.8%) had serious congenital heart disease. Of the remaining 602 cases that continued the pregnancy, 72 (11.9%) died in utero, 259 (43%) died postnatally (83 after surgery or invasive procedures), and 271 infants (45%) survived and presently range in age from 18 months to 13 years old. The mortality rate was higher in cases with associated extracardiac or chromosomal anomalies (68% and 74% of cases continuing pregnancy, respectively), and in cases with heart failure and complex cardiac defects.
CONCLUSIONS—The data confirm a relevant fetal and postnatal loss in cases with complex congenital heart disease, and major clinical use of prenatal diagnosis in the management of ductus dependent anomalies. Negative prognostic factors for the outcome were associated anomalies and heart failure.


Keywords: fetal echocardiography; congenital heart disease; prenatal diagnosis     

Transesophageal echocardiography for congenital heart disease

Surface echocardiographic imaging of small children is routinely successful in defining anatomical details and Doppler flow patterns with even the most complex congenital cardiac malformations. However, in larger children or adults, imaging is frequently limited. A recent expansion of the role of echocardiography is intraoperative epicardial imaging. Epicardial and postoperative imaging, however, have significant limitations. To avoid some of these limitations, transesophageal echocardiography has increasingly been used in the arena of congenital heart disease. The more recent development of small sized gastroscopic probes has allowed transesophageal echocardiographic assessment of congenital heart disease in children down to newborn size. As detailed studies of individual lesions are reported, it has become clear that the mere presence of a congenital heart defect is not an indication for transesophageal echocardiography in most children if imaging can be accomplished by surface examination. However, transesophageal echocardiography may be indicated for the intraoperative or postoperative assessment of that defect, particularly when repair has been difficult or is known to be associated with significant residual abnormalities. Cardiac structures encountered with horizontal and vertical imaging plane transducers have been described and should be completely familiar to the examining echocardiographer.     

Fetal interventions for structural heart disease

Fetal cardiac intervention (FCI) offers the potential to alter in utero anatomy and physiology. For aortic stenosis with evolving hypoplastic left heart syndrome and pulmonary atresia with intact ventricular septum with evolving hypoplastic right heart syndrome, FCI may result in maintenance of a biventricular circulation, thus avoiding single‐ventricle palliation and its attendant complications. In the case of hypoplastic left heart syndrome with intact atrial septum, FCI may ameliorate in utero pathophysiology and portend a more favorable postnatal prognosis. In all cases, a detailed fetal echocardiographic assessment to identify the appropriate FCI candidate is essential. This article reviews the three aforementioned lesions for which FCI can be considered. The pathophysiology and rationale for intervention, echocardiographic assessment, patient selection criteria, and outcomes for each lesion will be reviewed. A primary focus will be the echocardiographic evaluation of each lesion.     

Cardiac ultrasound: its role in the recognition and management of fetal heart disease

This article briefly reviews the role of ultrasound scanning in the diagnosis and management of fetal cardiac disease. Currently, the potential exists for the accurate identification of a wide range of cardiac defects and for the diagnosis and successful management of many cardiac rhythm disturbances. Considerable benefit is derived for families with previously affected children when a normal fetal cardiac ultrasound report can be provided.     

Perspectives on advance care planning and palliative care among adults with congenital heart disease

Background: Patients with adult congenital heart disease (ACHD) report that ad‐ vance care planning (ACP) is important, and that they want information about prog‐ nosis. However, recognizing importance and being willing to participate are different constructs, and how and when to begin ACP and palliative care discussions remains ill‐defined.
Methods: We conducted a cross‐sectional survey of 150 consecutive outpatients to assess willingness to participate in ACP, with whom, and important barriers and facili‐ tators to these discussions.
Results: The majority of participants (69%) reported being willing to participate in ACP; 79% to have a meeting to discuss goals and care preferences; and 91% to speak to a clinician who specializes in palliative care. Being married and anticipating a shorter lifespan were associated with increased reported willingness to participate in ACP. The health care provider with whom most participants preferred to have these discussions was their ACHD clinician. Participants identified important barriers and facilitators to these discussions.
Conclusion: Patients with ACHD report being willing to participate in ACP and pallia‐ tive care discussions. Patients prefer to have these discussions with their ACHD clini‐ cians, thus ACHD clinicians need to be prepared to address these issues as part of routine care.     

Comparison of the 1-year survival rate in infants with congenital heart disease diagnosed by prenatal and postnatal ultrasound: A retrospective study

The impact of prenatal diagnosis on the survival outcome of infants with congenital heart disease (CHD) is still unclear. This study aimed to compare the 1-year survival rate between the prenatally and postnatally diagnosed infants with CHDs.A single-center population-based retrospective cohort study was performed on data from all infants diagnosed with CHD born between January 1998 and December 2017. Among infants with isolated CHDs, the 1-year Kaplan–Meier survival probabilities for prenatal and postnatal diagnosis were estimated. Cox proportional hazard ratios were adjusted for critical CHD (CCHD) status and gestational age.A total of 424 (40 prenatally and 384 postnatally) diagnosed infants with CHDs were analyzed. Compared with non-CCHDs, infants with CCHDs were more likely to be prenatally diagnosed (55.0% vs 18.0%; P < .001). Among the 312 infants with isolated CHDs, the 1-year survival rate for the prenatally diagnosed was significantly lower than postnatally diagnosed (77.1% vs 96.1%; P < .001). For isolated CCHDs, the 1-year survival rate for the prenatally diagnosed was significantly lower than postnatally diagnosed (73.4% vs 90.0%; P < .001). The 1-year survival rate was increased with the increase of age at diagnosis. Among infants with isolated CHDs and CCHDs, the adjusted hazard ratios for 1-year mortality rates for the prenatally versus postnatally diagnosed were 2.554 (95% confidence interval [CI], 1.790, 3.654; P < .001) and 2.538 (95% CI: 1.796, 3.699; P < .001), respectively.Prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated CCHDs. This could probably due to variation in the disease severity among the CCHD subtypes.     

Intraoperative transesophageal echocardiography using high resolution imaging in infants and children with congenital heart disease

A transesophageal probe recently has been developed for use in pediatric patients, which incorporates 48 rather than 26 elements, and permits continuous-wave Doppler, and pulsed and color Doppler flow modalities. This probe potentially offers significantly enhanced image quality. To evaluate its capabilities, we tested the probe intraoperatively in 53 infants and children undergoing surgical repair of congenital heart disease, and found that clear echocardiographic images with good detail were provided, including the ability to image coronary arteries in patients weighing as little as 2.7 kg. Imaging detail transesophageally is commensurate with the performance of this system from a transthoracic route. This probe also has the capacity for accurate estimates of high velocity jets using continuous-wave Doppler, which is a relatively new development.     

Fetal lung volume and pulmonary artery changes in congenital heart disease with decreased pulmonary blood flow: Quantitative ultrasound analysis

Background

It has been reported that congenital heart disease with decreased pulmonary blood flow (CHD‐DPBF) may affect postnatal lung morphogenesis and function. However, there has been a lack of information regarding the impact of CHD‐DPBF on prenatal fetal lung development.

Methods

Fifty‐four fetuses with CHD‐DPBF were compared with 110 controls. Fetal lung volume (FLV) was estimated using three‐dimensional ultrasonography (3D‐US). Estimated fetal weight (EFW) and McGoon index (MGI) were estimated using two‐dimensional ultrasonography (2D‐US).

Results

FLV/EFW and MGI values measured using sonography for the CHD‐DPBF group were significantly reduced compared to those of the control group (P < .05). Pearson correlation analysis indicated that the summed diameter of the right pulmonary artery and left pulmonary artery (RPA + LPA) measured by 2D‐US correlated well with FLV measured by 3D‐US.

Conclusions

In our study, FLV/EFW and MGI values for fetuses with CHD‐DPBF tended to be decreased and FLV was associated with RPA + LPA. We concluded that CHD‐DPBF might delay fetal lung development. The summed diameter of the RPA + LPA measurement could be used as an alternative to FLV for assessing fetal lung development.     

Prenatal diagnosis of congenital heart disease in the northern region of England: benefits of a training programme for obstetric ultrasonographers

OBJECTIVE—To examine the results of fetal cardiac scanning and audit the changes in performance resulting from the introduction of a training programme for obstetric ultrasonographers.
METHODS—Using the database of the Northern Regional Congenital Abnormality Survey (NORCAS), fetuses with complex or significant congenital heart disease (CCHD) diagnosed prenatally in 1994 were identified. A simple programme of centralised and local training was instituted in 1995 by the department of paediatric cardiology to teach obstetric ultrasonographers in district general hospital maternity departments to identify congenital heart malformations. The results of the training programme were assessed by comparing the 1994 identification rate of CCHD with the rates for 1996 and 1997.
RESULTS—Birth rate fell during the study from 35 026 in 1994 to 32 874 in 1997. Registration of CCHD also fell, from 115 in 1994 to 87 in 1997. Prenatal recognition of CCHD rose from 17% in 1994 to 30% in 1995 and 36% in 1996. In 1997 it fell slightly to 26.9%. The total number of scans did not change much year on year, but the number of parents choosing termination increased significantly (from 22.7% to 57%).
CONCLUSIONS—A simple training programme for obstetric ultrasonographers increased their ability to detect serious congenital heart disease at a routine 18-20 week anomaly scan. With a termination rate of more than 50%, the incidence of CCHD in the population fell from 3.3/1000 to 2.6/1000 live births. This audit, conducted within a stable population using ascertainment by a well established fetal malformation registry, suggests that prenatal diagnosis may have a significant effect on the incidence of complex or serious congenital cardiac malformations.


Keywords: congenital heart disease; fetal echocardiography     

Doppler color flow echocardiography: indispensable application to congenital heart disease

Doppler color flow imaging has become indispensable in the diagnosis and management of patients with congenital heart disease. Certain defects may not be possible, or may be very difficult to diagnose by two-dimensional echocardiography alone. Such examples include multiple ventricular septal defects, anomalous pulmonary venous connection, coronary artery malformations, and the hypertensive patent ductus arteriosus. Additionally, color flow Doppler echocardiography significantly provides additional information, and reduces the time for fetal and transesophageal echocardiographic studies. Doppler color flow imaging has become an essential part of the echocardiographic examination. Experience has broadened the use of this important technological advance, with anticipation of an ever expanding future for its clinical application.     

Real time three-dimensional transthoracic echocardiography in congenital heart disease

Diagnosing congenital heart disease (CHD) depends heavily on imaging. Traditionally, two-dimensional (2D) echocardiography has been the most widely used but since this imaging modality utilizes a 2D technique to evaluate three-dimensional (3D) structures it suffers from inherent limitations. The more recently developed 3D echocardiography is poised to be superior in providing comprehensive evaluation prior to intervention on such complex conditions. In this review, we summarize the applications of 3D echocardiography in evaluating patients with CHD.     

A brief history of fetal echocardiography and its impact on the management of congenital heart disease

Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time‐motion mode, two‐dimensional B‐mode, spectral Doppler, color Doppler, and three‐ and four‐dimensional cardiac imaging. Collaboration between clinicians and engineers has been central to these advances. Also discussed are the accuracy and impact of fetal echocardiography on the management of CHD, and especially its role in the prenatal diagnosis of critical CHD in individualizing the management and improving the outcome. Despite these advances, most cases of CHD are not identified prenatally, emphasizing the continuing need for further technological and educational innovation and improvement.     

Interventional therapy for neonates with critical congenital heart disease

Transcatheter interventional therapies for children continue to evolve at a remarkable rate. Perhaps no where are these procedures more important than in the critically ill newborn. In this core curriculum review article several of the most commonly performed interventions performed in critically ill newborns are discussed with regards to technique and outcomes. © 2008 Wiley‐Liss, Inc.     

Feasibility and clinical impact of live three-dimensional echocardiography in the management of congenital heart disease

BACKGROUND: Precise assessment of congenital heart lesions requires inferential evaluation from multiple two-dimensional echocardiographic images (2DE). The aim of our study was to assess the usefulness of transthoracic live three-dimensional echocardiography (3DE) in the evaluation of congenital heart disease. METHODS: Eighty-two patients (from 4 months to 31 years, mean age 12 +/- 7.5, 38 males and 44 females), known to have congenital heart lesions, prospectively underwent both 2DE and 3DE. Conventional data acquisition by 2DE and "full volume" 3DE acquisition (apical four chambers, parasternal long and short axes, subcostal windows) were carried out by two independent and blinded operators. Data derived from 3DE were compared to 2DE, and 3DE results were graded into three categories: (A) new findings not seen on 2D echo studies, but not critical to therapeutic decision making; (B) additional anatomic information useful in therapeutic decision making; and (C) information equivalent to 2D echo studies. RESULTS: Two out of 82 patients (2%) were excluded because of suboptimal 3DE images. In comparison with 2DE studies, 3DE was graded A in 23 patients (29%), B in 28 patients (35%), and C in 29 patients (36%). In the patients with group B results, atrial and ventricular septal defects, endocardial cushion defects, and l-transposition of great vessels were the most represented pathologies in which 3DE aided medical or surgical therapeutic options. While the new findings in group A did not influence therapy, they defined the whole spectrum of abnormalities in those patients. In patients who fell under group C results, 3DE provided a direct realistic display of the pathology detected by 2DE. CONCLUSIONS: Our study demonstrates that live 3DE, easily performed at the bedside, provides incremental information on patients with a variety of congenital heart lesions. In the clinical scenario, it clarifies the pathology in all its dimensions, particularly in complex lesions with the incremental information having impact on therapeutic decision making.     

Estimation of pulmonary vascular resistance: correlation between echocardiography and catheterization data in patients with congenital heart disease

Background: The ratio of peak tricuspid regurgitation velocity (TRV) and right ventricular outflow time–velocity integral (TVI RVOT) has been described as a good correlate of pulmonary vascular resistance (PVR). However, this method has not been well studied in congenital heart disease. Method: Twenty patients with post‐tricuspid shunt lesions who were planned to undergo cardiac catheterization were enrolled for the study. The ratio of TRV/TVI_RVOT was measured via transthoracic echocardiography and correlated with invasively derived PVR (PVR_CATH). PVR_CATH was measured by cardiac catheterization. Fick's principle was used to calculate the pulmonary blood flow and oxygen consumption was assumed. Linear regression analysis was done to find the correlation between TRV/TVI_RVOT and PVR_CATH. Results: There was a significant correlation between the two variables, r = 0.635(P = 0.003). Subgroup analysis revealed that this correlation was better at lower values of PVR_CATH (r = 0.817 for PVR < 6 Wood units (WU)) than higher values (r = 0.659 for PVR > 6 WU). TRV/TVI_RVOT ratio of greater than 0.145 predicted with 80% sensitivity and specificity a PVR > 6 WU. Conclusions: There is modest correlation between TRV/TVI_RVOT ratio and invasively derived PVR in congenital shunt lesions, especially in PVR < 6 WU. TRV/TVI_RVOT ratio could be useful in identifying patients with congenital shunts whose PVR is likely to be <6 WU, and hence, do not need cardiac catheterization. (Echocardiography 2012;29:478‐483)     

产前重复超声检查在发现胎儿复杂型先天性心脏病中的作用

目的探讨产前重复超声检查在发现胎儿复杂型先天性心脏病(先心病)中的作用。方法回顾性分析5例孕中期初次超声检查胎儿心脏正常而孕晚期超声复查发现复杂型先心病的病例资料,分析初次检查漏诊原因和重复超声复查的作用。结果初查发现胎儿复杂型先心病17例,初查胎儿心脏正常而超声复查发现复杂型先心病5例,两次超声检查共发现胎儿复杂型先心病22例,占我院产检病例的0.6%。结论产前诊断胎儿先心病受多因素影响,有一定的漏诊率,要提高产前诊断的准确率,需同时重视孕中期的初次超声检查及孕晚期的重复超声检查,多次的超声检查可使先心病在产前的检出率达到最大。     

Applications of intravascular scanning and transesophageal echocardiography in congenital heart disease: tradeoffs and the merging of technologies

This chapter will review the evolving role of intravascular ultrasound imaging and transesophageal echo in the care of children, infants and adults with congenital heart disease. The technologies relevant to congenital heart disease applications differ from those involving coronary disease since the intravascular structures imaged often involve visualization of large vessels and cardiac chambers. On the other hand, the requirements for transesophageal echo in children with congenital heart disease involve intraoperative (surgical) and imaging procedures in the catheterization laboratory which are performed for monitoring interventional catheterization therapy. As such, whereas the intravascular devices needed for pediatric cases involve lower frequency and sometimes larger catheters, the requirements for transesophageal echocardiography require higher frequency and smaller esophagoscopes. Applications of intravascular imaging including sizing of congenital stenoses, dilation of coarctation and valvular stenoses, imaging of intrapulmonary thrombi and monitoring of placement of ASD button devices in the heart will be reviewed. The intraoperative transesophageal uses for monitoring infant surgery include procedures for tetralogy repair, transposition repair and repair of AV septal defects and other complex congenital heart disorders. Both of these invasive methods of echocardiography have an important and evolving role in the management of congenital heart disease in children and infants.