Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. OBJECTIVE: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. STUDY DESIGN: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. RESULTS: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56-11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69-0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06-0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03-0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36-0.91; P=.019). CONCLUSION: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.

Double aortic arch: a comparison of fetal cardiovascular magnetic resonance, postnatal computed tomography and surgical findings.

BACKGROUND: In double aortic arch (DAA), one of the arches can demonstrate atretic portions postnatally, leading to diagnostic uncertainty due to overlap with isolated right aortic arch (RAA) variants. The main objective of this study is to demonstrate the morphological evolution of different DAA phenotypes from prenatal to postnatal life using three-dimensional (3D) fetal cardiac magnetic resonance (CMR) imaging and postnatal computed tomography (CT)/CMR imaging. METHODS: Three-dimensional fetal CMR was undertaken in fetuses with suspected DAA over a 6-year period (January 2016-January 2022). All cases with surgical confirmation of DAA were retrospectively studied and morphology on fetal CMR was compared to postnatal CT/CMR and surgical findings. RESULTS: Thirty-four fetuses with surgically confirmed DAA underwent fetal CMR. The RAA was dominant in 32/34 (94%). Postnatal CT/CMR was undertaken at a median age of 3.3 months (interquartile range 2.0-3.9) demonstrating DAA with patency of both arches in 10/34 (29%), with 7 showing signs of coarctation of the left aortic arch (LAA). The LAA isthmus was not present on CT/CMR in 22/34 (65%), and the transverse arch between left carotid and left subclavian artery was not present in 2 cases. CONCLUSION: Fetal CMR provides novel insights into perinatal evolution of DAA. The smaller LAA can develop coarctation or atresia related to postnatal constriction of the arterial duct, making diagnosis of DAA challenging with contrast-enhanced CT/CMR. This highlights the potentially important role for prenatal 3D vascular imaging and might improve the interpretation of postnatal imaging.

Fetal Speckle Tracking Echocardiography Measured Global Longitudinal Strain and Strain Rate in Congenital Heart Disease: A Systematic Review and Meta-Analysis.

Fetal two-dimensional speckle tracking echocardiography (2D-STE) is a novel technique that provides information on fetal heart function by measuring global longitudinal strain (GLS) and global longitudinal strain rate (GLSR). These features assess the longitudinal deformity of the fetal cardiac wall. 2D-STE is shown to be of prognostic value in children and adults with congenital heart disease (CHD). Therefore, its importance in fetal life should also be considered. This systematic review and meta-analysis provides an overview of the literature on 2D-STE (GLS/GLSR) in fetuses with CHD, focusing on the left and right ventricles (LV/RV). Findings indicated that LV-GLS was significantly lower in fetuses with coarctation of the aorta (CoA) and Tetralogy of Fallot (ToF) compared to controls. Conversely, fetuses with a single left ventricle exhibited higher LV-GLS. RV-GLS was significantly lower in fetuses with hypoplastic left heart syndrome (HLHS) and ToF compared to controls. LV-GLSR was significantly lower in fetuses with CoA. Overall, considerable heterogeneity was observed, possibly due to differences in study design. More prospective longitudinal studies on 2D-STE in fetuses with CHD, considering heterogeneity parameters, could offer better insights into this promising technique.

Association of Prenatally Diagnosed Isolated Single Left Superior Vena Cava and Postnatal Development of Coarctation of the Aorta.

To report the prevalence of coarctation of the aorta (CoA) in fetuses with single left superior vena cava (SL-SVC) and to evaluate changes in echocardiographic measurements. Additionally, to report the prevalence of associated malformations. Retrospective observational study of fetuses diagnosed with SL-SVC between 2012 and 2021 at a tertiary fetal cardiology unit. In fetuses without intracardiac abnormalities, Z-scores of the ventricles, great arteries, and Doppler flow patterns are reported. We identified 47 fetuses with SL-SVC of which 8/47 (17%) had abnormal intracardiac anatomy. One fetus was lost to follow-up. Of those with normal intracardiac anatomy and postnatal follow-up (38), karyotype abnormalities were confirmed in 2/38 (5%) and ECA in 8/38 (21%). 33/38 were live-born. None developed CoA postnatally. Paired analysis of Z-scores between early and late scans of 24 fetuses showed that diameters of the right heart structures and Doppler flows of tricuspid valve increased significantly during pregnancy, while the left heart structures and flow patterns did not change. The median risk of CoA did not change between the early and the late scan. We did not observe CoA in this cohort. A degree of ventricular asymmetry was present, but this was due to right heart dominance rather than hypoplasia of left heart structures. This likely reflects redistribution of blood and does not appear to confer increased risk of CoA. Predictive models of the postnatal development of CoA which set the dimensions of right and left heart structures in relation might not be applicable in this situation.

Prevalence of cardiac valvar abnormalities in children and young people with autosomal dominant polycystic kidney disease.

BACKGROUND: Valvar abnormalities in children and adults with autosomal dominant polycystic kidney disease (ADPKD) have previously been reported as a frequent occurrence. Mitral valve prolapse (MVP), in particular, has been reported in almost one-third of adult patients and nearly 12% of children with ADPKD. Our objective in this study was to establish the prevalence of valvar abnormalities in a large, contemporary series of children and young people (CYP) with ADPKD. METHODS: A retrospective, single centre, cross-sectional analysis of the echocardiograms performed on all consecutive children seen in a dedicated paediatric ADPKD clinic. Full anatomical and functional echocardiograms were performed and analysed for valvar abnormalities. RESULTS: The echocardiograms of 102 CYP with ADPKD (range 0.25-18 years, mean age 10.3 years, SD ± 5.3 years) were analysed. One (0.98%), 3-year-old boy, had MVP. There was no associated mitral regurgitation. Evaluating variations in normal valvar anatomy, 9 (8.8%) patients, aged 7.1 to 18 years, had minor bowing ± visual elongation of either the anterior or posterior leaflet of the mitral valve, none of which fell within the criteria of true MVP. Three (1.9%) patients, 2 boys and 1 girl aged between 7 and 14 years, had trivial or mild aortic regurgitation. No patients had echocardiographic evidence of tricuspid valve prolapse (TVP). CONCLUSION: In this contemporary cohort of CYP with ADPKD, the incidence of MVP and other valvar lesions is significantly lower than previously reported. A higher resolution version of the Graphical abstract is available as Supplementary information.

Prenatal diagnosis of hypoplastic left heart syndrome on ultrasound using artificial intelligence: How does performance compare to a current screening programme?

BACKGROUND: Artificial intelligence (AI) has the potential to improve prenatal detection of congenital heart disease. We analysed the performance of the current national screening programme in detecting hypoplastic left heart syndrome (HLHS) to compare with our own AI model. METHODS: Current screening programme performance was calculated from local and national sources. AI models were trained using four-chamber ultrasound views of the fetal heart, using a ResNet classifier. RESULTS: Estimated current fetal screening programme sensitivity and specificity for HLHS were 94.3% and 99.985%, respectively. Depending on calibration, AI models to detect HLHS were either highly sensitive (sensitivity 100%, specificity 94.0%) or highly specific (sensitivity 93.3%, specificity 100%). Our analysis suggests that our highly sensitive model would generate 45,134 screen positive results for a gain of 14 additional HLHS cases. Our highly specific model would be associated with two fewer detected HLHS cases, and 118 fewer false positives. CONCLUSION: If used independently, our AI model performance is slightly worse than the performance level of the current screening programme in detecting HLHS, and this performance is likely to deteriorate further when used prospectively. This demonstrates that collaboration between humans and AI will be key for effective future clinical use.

Fetal echocardiographic markers to differentiate between a right and double aortic arch.

OBJECTIVES: To describe the fetal echocardiographic features of a double aortic arch (DAA) and secondly, to assess the performance of these features to differentiate between a right aortic arch with left duct (RAA-LD) in a blinded cohort of vascular rings. METHODS: Review of records to identify surgically confirmed cases of DAA diagnosed prenatally from 2014 to 2018 (cohort-A). Prenatal echocardiograms were reviewed and the segments of the aortic arches anterior and posterior to the trachea, aortic isthmuses and the presence/absence of the Z-sign were described. The utility of these markers were assessed in a separate cohort (B) of fetuses with surgically confirmed cases of DAA or RAA-LD. RESULTS: Cohort-A comprised 34 cases with DAA; there was a dominant RAA in 32/34 (94%) and balanced left aortic arch (LAA) and RAA in two cases. The proximal LAA was seen in 29/34 (85%), distal LAA in 15/34 (44%) and the LAA aortic isthmus in 4/34 (12%). The "Z" configuration was present in 29/34 (85%) cases. The most predictive marker for DAA in cohort-B was the Z-sign (sensitivity: 100%, specificity: 81%). CONCLUSION: The "Z" sign is a useful differentiator between RAA-LD and DAA. The absence of visualization of the left aortic isthmus does not preclude the presence of a DAA.

Three-dimensional visualisation of the fetal heart using prenatal MRI with motion-corrected slice-volume registration: a prospective, single-centre cohort study.

BACKGROUND: Two-dimensional (2D) ultrasound echocardiography is the primary technique used to diagnose congenital heart disease before birth. There is, however, a longstanding need for a reliable form of secondary imaging, particularly in cases when more detailed three-dimensional (3D) vascular imaging is required, or when ultrasound windows are of poor diagnostic quality. Fetal MRI, which is well established for other organ systems, is highly susceptible to fetal movement, particularly for 3D imaging. The objective of this study was to investigate the combination of prenatal MRI with novel, motion-corrected 3D image registration software, as an adjunct to fetal echocardiography in the diagnosis of congenital heart disease. METHODS: Pregnant women carrying a fetus with known or suspected congenital heart disease were recruited via a tertiary fetal cardiology unit. After initial validation experiments to assess the general reliability of the approach, MRI data were acquired in 85 consecutive fetuses, as overlapping stacks of 2D images. These images were then processed with a bespoke open-source reconstruction algorithm to produce a super-resolution 3D volume of the fetal thorax. These datasets were assessed with measurement comparison with paired 2D ultrasound, structured anatomical assessment of the 2D and 3D data, and contemporaneous, archived clinical fetal MRI reports, which were compared with postnatal findings after delivery. FINDINGS: Between Oct 8, 2015, and June 30, 2017, 101 patients were referred for MRI, of whom 85 were eligible and had fetal MRI. The mean gestational age at the time of MRI was 32 weeks (range 24-36). High-resolution (0·50-0·75 mm isotropic) 3D datasets of the fetal thorax were generated in all 85 cases. Vascular measurements showed good overall agreement with 2D echocardiography in 51 cases with paired data (intra-class correlation coefficient 0·78, 95% CI 0·68-0·84), with fetal vascular structures more effectively visualised with 3D MRI than with uncorrected 2D MRI (657 [97%] of 680 anatomical areas identified vs 358 [53%] of 680 areas; p<0·0001). When a structure of interest was visualised in both 2D and 3D data (n=358), observers gave a higher diagnostic quality score for 3D data in 321 (90%) of cases, with 37 (10%) scores tied with 2D data, and no lower scores than for 2D data (Wilcoxon signed rank test p<0·0001). Additional anatomical features were described in ten cases, of which all were confirmed postnatally. INTERPRETATION: Standard fetal MRI with open-source image processing software is a reliable method of generating high-resolution 3D imaging of the fetal vasculature. The 3D volumes produced show good spatial agreement with ultrasound, and significantly improved visualisation and diagnostic quality compared with source 2D MRI data. This freely available combination requires minimal infrastructure, and provides safe, powerful, and highly complementary imaging of the fetal cardiovascular system. FUNDING: Wellcome Trust/EPSRC Centre for Medical Engineering, National Institute for Health Research.

Procedural, pregnancy, and short-term outcomes after fetal aortic valvuloplasty.

OBJECTIVES: We aimed to evaluate the effect of technical aspects of fetal aortic valvuloplasty (FAV) on procedural risks and pregnancy outcomes. BACKGROUND: FAV is performed in cases of severe mid-gestation aortic stenosis with the goal of preventing hypoplastic left heart syndrome (HLHS). METHODS: The International Fetal Cardiac Intervention Registry was queried for fetuses who underwent FAV from 2002 to 2018, excluding one high-volume center. RESULTS: The 108 fetuses had an attempted cardiac puncture (mean gestational age [GA] 26.1 ± 3.3 weeks). 83.3% of attempted interventions were technically successful (increased forward flow/new aortic insufficiency). The interventional cannula was larger than 19 g in 70.4%. More than one cardiac puncture was performed in 25.0%. Intraprocedural complications occurred in 48.1%, including bradycardia (34.1%), pericardial (22.2%) or pleural effusion (2.7%) requiring drainage, and balloon rupture (5.6%). Death within 48 hr occurred in 16.7% of fetuses. Of the 81 patients born alive, 59 were discharged home, 34 of whom had biventricular circulation. More than one cardiac puncture was associated with higher complication rates (p < .001). Larger cannula size was associated with higher pericardial effusion rates (p = .044). On multivariate analysis, technical success (odds ratio [OR] = 10.9, 95% confidence interval [CI] = 2.2-53.5, p = .003) and later GA at intervention (OR = 1.5, 95% CI = 1.2-1.9, p = .002) were associated with increased odds of live birth. CONCLUSIONS: FAV is an often successful but high-risk procedure. Multiple cardiac punctures are associated with increased complication and fetal mortality rates. Later GA at intervention and technical success were independently associated with increased odds of live birth. However, performing the procedure later in gestation may miss the window to prevent progression to HLHS.

Early Postnatal Echocardiography in Neonates with a Prenatal Suspicion of Coarctation of the Aorta.

Coarctation of the aorta (COA) is suspected prenatally when there is ventricular asymmetry, arterial disproportion, and hypoplasia of the aortic arch/isthmus. The presence of fetal shunts creates difficulty in prenatal confirmation of the diagnosis so serial echocardiography after birth is necessary to confirm or refute the diagnosis. The first neonatal echocardiogram in prenatally suspected cases of COA was assessed for prediction of neonatal COA repair (NCOAR). This included morphological assessment, measurement of the aortic arch and calculation of the distal arch index (DAI = distance between left common carotid and left subclavian artery/diameter of the distal arch). NCOAR was undertaken in 23/60 (38%) cases. Transverse arch, aortic isthmus z-score, and DAI had an area under the receiver operator curve of 0.88 (95% CI 0.77-0.98), 0.86 (95% CI 0.75-0.96), and 0.84 (95% CI 0.74-0.95), respectively for the prediction of NCOAR. Using transverse arch z-score threshold < - 3 gave sensitivity 100%, NPV: 100%, specificity 76%; aortic isthmus z-score < - 3: NPV 92%, specificity 62% and DAI > 1.4: NPV 88%, specificity 78%. The size of the distal aortic arch in infants with a common origin of the innominate artery and left common carotid artery who did not require COA repair was similar to the NCOAR cases (p = 0.22). The early postnatal assessment of the size and morphology of the aortic arch can assist in risk stratification for development of neonatal COA. The branching pattern of the head/neck vessels impacts on the size of the distal aortic arch adding to the complexity of predicting COA based on vessel size.

Initial Experience of Superb Microvascular Imaging for Key Cardiac Views in Foetal Assessment before 15 Weeks Gestation.

BACKGROUND: In the first trimester, ultrasound confirmation of normal or abnormal cardiac anatomy is difficult. B-mode and colour flow Doppler (CFD) are used to assess the foetal heart. Superb microvascular imaging (SMI) can visualise blood flow within the heart and vessels in early gestation. OBJECTIVE: We report an initial experience of SMI for visualisation of normal and abnormal cardiac anatomy in the first trimester. METHODS: Transabdominal foetal echocardiography was performed between 11 + 6 and 14 + 3 weeks (Aplio 500 US system, Toshiba Medical Systems, Tokyo, Japan) from January 2017 to December 2017. All scans were performed at a tertiary foetal cardiology unit. To assess the potential utility of the technique for early gestation screening, normal scans were reviewed by foetal medicine trainees with respect to the B-mode, CFD and SMI. Three key views were selected to compare modalities: the 4-chamber view, outflow tracts and the 3-vessel and trachea view (VTV). Visualisation rates of key echocardiographic features of significant cardiac abnormalities by SMI were reviewed. RESULTS: Fifty-five normal echocardiograms and 34 cardiac abnormalities were included. In the normal heart, when B-mode, CFD and SMI were assessed separately, SMI had the highest rate of visualisation of 4-chamber, outflow tracts and 3-VTV (93, 85 and 83%, respectively). Intra-observer reliability was moderate for SMI of the 3 standard views (kappa 1, 0.64 and 0.64); inter-observer for 4-chamber and outflow tract views was moderate (kappa 0.64 and 0.77). In 29/34 abnormal cases, SMI showed key features, enhancing greyscale visualisation. CONCLUSION: SMI has potential to become a useful, complementary modality for early foetal echocardiography. Further prospective studies are warranted to establish the place of the technique in assessment of the first trimester foetal heart.

Pulse oximetry findings in newborns with antenatally diagnosed congenital heart disease.

A retrospective review of admission preductal oxygen saturations of neonates with antenatally diagnosed critical congenital heart disease (CCHD) was performed to investigate the differences in newborn pulse oximetry (Pulsox) by specific CCHD diagnosis. Saturations were recorded at median of < 1 h (range < 1-9 h) after delivery. Data was stratified by CCHD diagnosis and analysed according to the three different admission Pulsox thresholds, ≤ 90, ≤ 92 and ≤ 95%. Of the 276 neonates studied, 208 were clinically well at admission, with no co-morbidities, gestation > 34 weeks and birth weight > 1.8 kg. A statistically significant increase in the proportion with low admission saturations was seen using ≤ 95% saturation threshold (72% (95% CI 66-78)) compared to ≤ 92% (52% (95% CI 46-59)) and ≤ 90% (46% (95% CI 39-52)). Sub-group analysis found the proportion of neonates with low saturations varied according to the specific CCHD diagnosis with only 20-42% of neonates with aortic stenosis, coarctation of the aorta and pulmonary stenosis having saturations ≤ 95%. CONCLUSION: The proportion of neonates with low admission oxygen saturation varied by CCHD diagnosis with those without critically reduced pulmonary blood flow not having low admission saturations, in general, even using the ≤ 95% threshold which had the highest proportions of abnormal saturations. This data may assist developing Pulsox screening policies. What is Known: • The addition of pulse oximetry (Pulsox) screening to the routine newborn examination increases the sensitivity of CCHD detection. Pulsox screening is also highly specific for CCHD in asymptomatic neonates, with low false-positive rates. • Early diagnosis of CCHD improves patient outcomes in relation to both morbidity and mortality. What is New: • The proportion of affected infants with an abnormal Pulsox result varies by CCHD diagnosis and screening threshold. In our study using the ≤ 95% threshold gave the highest proportion of neonates with abnormal saturations at admission. • In general, Pulsox yield of abnormal results is low for CCHD diagnoses not associated with critically reduced pulmonary blood flow; however, increasing the Pulsox threshold increased the proportion of infants with an abnormal result.

Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch.

OBJECTIVE: To define the associations of a prenatally diagnosed, apparently isolated right aortic arch (RAA) with chromosomal or genetic abnormalities and tracheal compression. METHODS: This was a retrospective study of apparently isolated RAA assessed by fetal cardiologists and fetal medicine specialists at Kings College Hospital, London between 2000 and 2017. RESULTS: The search identified 138 cases of apparently isolated RAA. Invasive testing was performed in 75, and chromosomal or genetic anomalies were identified in 16 (22%), and the most common was 22q11 microdeletion. An aberrant left subclavian artery was seen in 51% of cases. Symptoms of a vascular ring were present in 24 of 97 (25%) children who were reviewed after birth. Bronchoscopy was performed in 33 children, and significant tracheal compression was diagnosed in 28, including 18 of 19 symptomatic and 10 of 14 asymptomatic children. CONCLUSIONS: An apparently isolated RAA is associated with a high incidence of chromosomal or genetic abnormalities and a high incidence of tracheal compression in symptomatic and asymptomatic patients. Prenatal counselling for genetic associations and postnatal airway assessment in the context of the vascular anatomy is recommended.

Hypertension in Coarctation of the Aorta: Challenges in Diagnosis in Children.

Evidence indicates that patients with coarctation of the aorta (COA) suffer from increased cardiovascular morbidity and mortality in later life despite successful repair of COA in childhood. Systolic arterial hypertension is common, presenting in up to one-third of patients, and is regarded as the main driver of premature cardiovascular events in this group of patients. In this review, we discuss the prevalence and pathophysiology of hypertension in children following successful COA repair with no residual arch obstruction. The challenges in accurate blood pressure assessment at this early phase are considered and non-invasive measures of central blood pressure are discussed. Although the pathways for investigations in adults are well defined, we highlight the need to address the issues of cardiovascular surveillance in children and describe techniques which can provide complementary information for cardiovascular assessment in this group of patients such that timely treatment can occur.

Correlation of Symptoms with Bronchoscopic Findings in Children with a Prenatal Diagnosis of a Right Aortic Arch and Left Arterial Duct.

A right aortic arch (RAA) with a left arterial duct (LAD) together encircle the trachea and have the potential to cause tracheobronchial compression and published guidelines recommend bronchoscopy in symptomatic patients. The aim of the study was to describe the incidence of tracheal compression in a cohort of prenatally diagnosed RAA and LAD. Retrospective review of clinical course and imaging of prenatal cases of RAA and LAD assessed with flexible bronchoscopy over an 11-year period. 34 cases of prenatally diagnosed RAA with LAD underwent bronchoscopy at median age of 9 months (range 0.4-123) of whom 11 had respiratory symptoms and 23 were asymptomatic. In the neonatal period, three cases demonstrated respiratory symptoms. An aberrant left subclavian artery (ALSA) was identified in 29 cases. Pulsatile tracheal compression was identified in 32/34 (94%) cases and two cases showed normal tracheal appearances. Significant tracheal compression (> 70% occlusion) was present in 25/34 (74%) cases of which 16 were asymptomatic. Significant carinal compression (> 70% occlusion) was identified in 14/34 (42%) cases, an ALSA was observed in 13/14. Surgical relief of a vascular ring has been performed in 27 (79%) cases at a median age of 15 months (range 0.6-128 months). At surgery, a fibrous remnant of an atretic left aortic arch was identified in 11/27 (41%) cases. Significant tracheal compression may be present in infants even without symptoms. If early relief of airway compression is to be achieved to promote normal development of tracheal cartilage, early bronchoscopy should be considered.

Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change.

BACKGROUND: Quantitative echocardiographic assessment of right ventricular function is important in children with hypoplastic left heart syndrome (HLHS). The aim of this study was to examine the repeatability of different echocardiographic techniques, both manual and automated, to measure fractional area change (FAC) in patients with HLHS and to correlate these measurements with magnetic resonance imaging (MRI)-derived ejection fraction (EF). METHODS: Fifty-one children with HLHS underwent transthoracic echocardiography and cardiac MRI under the same general anesthetic as part of routine inter-stage assessment. FAC was measured from the apical four-chamber view using three different techniques: velocity vector imaging (VVI) (Syngo USWP 3.0; Siemens Healthineers), QLAB (Q-lab R 10.0; Philips Healthcare), and manual endocardial contour tracing (Xcelera, Philips Healthcare). Intra- and inter-observer variability was calculated using intra-class correlation coefficient (ICC). FAC was correlated with MRI EF calculated using a single standard method. RESULTS: Fractional area change had a good correlation with MRI-derived EF with an R value for VVI, QLAB, and manual methods of .7, .6, and .4, respectively. Intra- and inter-observer variability for FAC was good for automated echocardiographic methods (ICC>.85) but worse for manual method particularly inter-observer variability of FAC and end-systolic area. Both automated techniques tended to produce higher FAC values compared with manual measurements (P<.001). CONCLUSION: Automation improves the repeatability of FAC in HLHS. There are some differences between automated software in terms of correlation with MRI-derived EF. Measurement bias and wide limits of agreement mean that the same echocardiographic technique should be used during the follow-up of individual patients.

The neurodevelopmental implications of hypoplastic left heart syndrome in the fetus.

As survival after cardiac surgery continues to improve, an increasing number of patients with hypoplastic left heart syndrome are reaching school age and beyond, with growing recognition of the wide range of neurodevelopmental challenges many survivors face. Improvements in fetal detection rates, coupled with advances in fetal ultrasound and MRI imaging, are contributing to a growing body of evidence that abnormal brain architecture is in fact present before birth in hypoplastic left heart syndrome patients, rather than being solely attributable to postnatal factors. We present an overview of the contemporary data on neurodevelopmental outcomes in hypoplastic left heart syndrome, focussing on imaging techniques that are providing greater insight into the nature of disruptions to the fetal circulation, alterations in cerebral blood flow and substrate delivery, disordered brain development, and an increased potential for neurological injury. These susceptibilities are present before any intervention, and are almost certainly substantial contributors to adverse neurodevelopmental outcomes in later childhood. The task now is to determine which subgroups of patients with hypoplastic left heart syndrome are at particular risk of poor neurodevelopmental outcomes and how that risk might be modified. This will allow for more comprehensive counselling for carers, better-informed decision making before birth, and earlier, more tailored provision of neuroprotective strategies and developmental support in the postnatal period.

Interstage somatic growth in children with hypoplastic left heart syndrome after initial palliation with the hybrid procedure.

Introduction The hybrid procedure is one mode of initial palliation for hypoplastic left heart syndrome. Subsequently, patients proceed with either the "three-stage" pathway - comprehensive second stage followed by Fontan completion - or the "four-stage" pathway - Norwood procedure, hemi-Fontan, or Fontan completion. In this study, we describe somatic growth patterns observed in the hybrid groups and a comparison primary Norwood group. METHODS: A retrospective analysis of patients who have undergone hybrid procedure and Fontan completion was performed. Weight-for-age and height-for-age z-scores were recorded at each operation. RESULTS: We identified 13 hybrid patients - eight in the three-stage pathway and five in the four-stage pathway - and 49 Norwood patients. Weight: three stage: weight decreased from hybrid procedure to comprehensive second stage (-0.4±1.3 versus -2.3±1.4, p<0.01) and then increased to Fontan completion (-0.4±1.5 versus -0.6±1.4, p<0.01); four stage: weight decreased from hybrid procedure to Norwood (-2.0±1.4 versus -3.3±0.9, p=0.06), then stabilised to hemi-Fontan. Weight increased from hemi-Fontan to Fontan completion (-2.7±0.6 versus -1.0±0.7, p=0.01); primary Norwood group: weight decreased from Norwood to hemi-Fontan (p<0.001) and then increased to Fontan completion (p<0.001). Height: height declined from hybrid procedure to Fontan completion in the three-stage group. In the four-stage group, height decreased from hybrid to hemi-Fontan, and then increased to Fontan completion. The Norwood group decreased in height from Norwood to hemi-Fontan, followed by an increase to Fontan completion. CONCLUSION: In this study, we show that patients undergoing the hybrid procedure have poor weight gain before superior cavopulmonary connection, before returning to baseline by Fontan completion. This study identifies key periods to target poor somatic growth, a risk factor of morbidity and worse neurodevelopmental outcomes.

Expert consensus statement 'Neonatologist-performed Echocardiography (NoPE)'-training and accreditation in UK.

Targeted echocardiographic assessments of haemodynamic status are increasingly utilised in many settings. Application in the neonatal intensive care units (NICU) is increasingly demanded but challenging given the risk of underlying structural lesions. This statement follows discussions in UK led by the Neonatologists with an Interest in Cardiology and Haemodynamics (NICHe) group in collaboration with the British Congenital Cardiac Association (BCCA) and the Paediatricians with Expertise in Cardiology Special Interest Group (PECSIG). Clear consensus was agreed on multiple aspects of best practice for neonatologist-performed echocardiogram (NoPE)-rigorous attention to infection control and cardiorespiratory/thermal stability, early referral to paediatric cardiology with suspicion of structural disease, reporting on standardised templates, reliable image storage, regular skills maintenance, collaboration with a designated paediatric cardiologist, and regular scan audit/review. It was agreed that NoPE assessments should confidently exclude structural lesions at first scan. Practitioners would be expected to screen and establish gross normality of structure at first scan and obtain confirmation from paediatric cardiologist if required, and subsequently, functional echocardiography can be performed for haemodynamic assessment to guide management of newborn babies. To achieve training, NICHe group suggested that mandatory placements could be undertaken during core registrar training or neonatal subspecialty grid training with a paediatric cardiology placement for 6 months and a neonatology placement for a minimum of 6 months. In the future, we hope to define a precise curriculum for assessments. Technological advances may provide solutions-improvements in telemedicine may have neonatologists assessing haemodynamic status with paediatric cardiologists excluding structural lesions and neonatal echocardiography simulators could increase exposure to multiple pathologies and allow limitless practice in image acquisition. CONCLUSION: We propose developing training places in specialist paediatric cardiology centres and neonatal units to facilitate training and suggest all UK practitioners performing neonatologist-performed echocardiogram adopt this current best practice statement. WHAT IS KNOWN: Neonatologist-performed echocardiogram (NoPE) also known as targeted neonatal echocardiography (TNE) or functional ECHO is increasingly recognised and utilised in care of sick newborn and premature babies. There are differences in training for echocardiography across continents and formal accreditation processes are lacking. WHAT IS NEW: This is the first document of consensus best practice statement for training of neonatologists in neonatologist-performed echocardiogram (NoPE), jointly drafted by Neonatologists with interest in cardiology & haemodynamics (NICHe), paediatric cardiology and paediatricians with expertise in cardiology interest groups in UK. Key elements of a code of practice for neonatologist-performed echocardiogram are suggested.