Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study.

Background Fetal diagnosis of congenitally corrected transposition of the great arteries (ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain underexplored. We undertook a multicenter, retrospective study to investigate natural history, associated anomalies, and outcomes of fetal ccTGA. Methods and Results Fetuses with ccTGA diagnosed from January 2004 to July 2020 within 20 North American programs were included. Fetuses with severe ventricular hypoplasia thought to definitively preclude biventricular repair were excluded. We included 205 fetuses diagnosed with ccTGA at a median gestational age of 23 (interquartile range, 21-27) weeks. Genetic abnormalities were found in 5.9% tested, with extracardiac anomalies in 6.3%. Associated cardiac defects were diagnosed in 161 (78.5%), with atrioventricular block in 23 (11.3%). On serial fetal echocardiogram, 39% demonstrated a functional or anatomic change, most commonly increased tricuspid regurgitation (6.7%) or pulmonary outflow obstruction (11.1%). Of 194 fetuses with follow-up, 26 were terminated, 3 experienced fetal death (2 with atrioventricular block), and 165 were live-born. Of 158 with postnatal data (median follow-up 3.7 years), 10 (6.6%) had death/transplant before 1 year. On univariable analysis, fetal factors associated with fetal death or death/transplant by 1 year included ≥ mild tricuspid regurgitation, pulmonary atresia, aortic obstruction, fetal arrhythmia, and worsening hemodynamics on serial fetal echocardiogram (defined as worse right ventricular function, tricuspid regurgitation, or effusion). Conclusions Associated cardiac lesions and arrhythmias are common in fetal ccTGA, and functional changes commonly occur through gestation. Worse outcomes are associated with fetal tricuspid regurgitation (≥mild), any arrhythmia, pulmonary atresia, aortic obstruction, and worsening hemodynamics on serial echocardiograms. These findings can inform prenatal counseling and perinatal management planning.

Four-dimensional fetal cardiac imaging in a cohort of fetuses with suspected congenital heart disease.

BACKGROUND: Fetal cardiac magnetic resonance imaging (MRI) requires high spatial and temporal resolution and robustness to random fetal motion to capture the dynamics of the beating fetal heart. Slice-to-volume reconstruction techniques can produce high-resolution isotropic images while compensating for random fetal motion. OBJECTIVE: The objective of this study was to evaluate image quality for slice-to-volume reconstruction of four-dimensional balanced steady-state free precession (bSSFP) imaging of the fetal heart. MATERIALS AND METHODS: A cohort of 13 women carrying fetuses with congenital heart disease were imaged with real-time bSSFP sequences. Real-time bSSFP sequences were post-processed using a slice-to-volume reconstruction algorithm to produce retrospectively gated 4-D sequences with isotropic spatial resolution. Two radiologists evaluated slice-to-volume reconstruction image quality on a scale from 0 to 4 using 11 categories based on a segmental approach to defining cardiac anatomy and pathology. A score of 0 corresponded to cardiac structures not visualized at all and four corresponded to high quality and distinct appearance of structures. RESULTS: In 11 out of 13 cases, the average radiologist score of image quality across all categories was 3.0 or greater. In the remaining two cases, slice-to-volume reconstruction was not possible due to insufficient image quality in the acquisition. CONCLUSION: Slice-to-volume reconstruction has the potential to produce isotropic images with high spatial and temporal resolution that can display the anatomy of the fetal heart in arbitrary imaging planes retrospectively. More rapid, motion-robust acquisitions may be necessary to successfully reconstruct the fetal heart in all patients.

Contribution of fetal magnetic resonance imaging in fetuses with congenital heart disease.

BACKGROUND: Increasing evidence supports an association among congenital heart disease (CHD), structural brain lesions on neuroimaging, and increased risk of neurodevelopmental delay and other structural anomalies. Fetal MRI has been found to be effective in demonstrating fetal structural and developmental abnormalities. OBJECTIVE: To determine the contribution of fetal MRI to identifying cardiovascular and non-cardiovascular anomalies in fetuses with CHD compared to prenatal US and fetal echocardiography. MATERIALS AND METHODS: We performed a retrospective study of fetuses with CHD identified by fetal echocardiography. Exams were performed on 1.5-tesla (T) or 3-T magnets using a balanced turbo field echo sequence triggered by an external electrocardiogram simulator with a fixed heart rate of 140 beats per minute (bpm). Fetal echocardiography was performed by pediatric cardiologists and detailed obstetrical US by maternal-fetal medicine specialists prior to referral to MRI. We compared the sensitivity of fetal MRI and fetal echocardiography for the diagnosis of cardiovascular anomalies, as well as the sensitivity of fetal MRI and referral US for the diagnosis of non-cardiac anomalies. We performed statistical analysis using the McNemar test. RESULTS: We identified 121 anomalies in 31 fetuses. Of these, 73 (60.3%) were cardiovascular and 48 (39.7%) involved other organ systems. Fetal echocardiography was more sensitive for diagnosing cardiovascular anomalies compared to fetal MRI, but the difference was not statistically significant (85.9%, 95% confidence interval [CI] 77.8-94.0% vs. 77.5%, 95% CI 67.7-87.2%, respectively; McNemar test 2.29; P=0.13). The sensitivity of fetal MRI was higher for diagnosing extracardiac anomalies when compared to referral US (84.1%, 95% CI 73.3-94.9% vs. 31.8%, 95% CI 18.1-45.6%, respectively; McNemar test 12.9; P<0.001). The additional information provided by fetal MRI changed prognosis, counseling or management for 10/31 fetuses (32.2%), all in the group of 19 fetuses with anomalies in other organs and systems besides CHD. CONCLUSION: Fetal MRI performed in a population of fetuses with CHD provided additional information that altered prognosis, counseling or management in approximately one-third of the fetuses, mainly by identifying previously unknown anomalies in other organs and systems.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Hybrid procedure as treatment for large obstructive left ventricular rhabdomyoma.

We present one of the first reported cases of a neonate with a prenatal diagnosis of large left ventricular rhabdomyoma obstructing the outflow tract that underwent a hybrid procedure with stenting of the patent duct arteriosus and bilateral pulmonary artery banding.

B-type natriuretic peptide monitoring in the Pediatric ICU population.

The natriuretic peptide system plays an active role in the regulation of fluid balance and systemic vascular resistance. Assays of these peptides are now available and may be used for both diagnostic and prognostic purposes. Despite its primary use in adults, it may have a diagnostic role in the Pediatric ICU as well. The basic physiology of the natriuretic system is discussed and the potential applications of B-type natriuretic peptide (BNP) monitoring as a diagnostic tool in various clinical scenarios in infants and children in the Pediatric ICU setting is reviewed.

Delayed magnetic resonance imaging contrast enhancement of synthetic ventricular septum.

This is a report of a magnetic resonance imaging with delayed contrast enhancement on an adult patient with double-inlet left ventricle and L-transposition of the great arteries who has undergone staged ventricular septation in childhood. This report is unique demonstration of delayed contrast enhancement of the synthetic Teflon septum.

Value of plasma B-type natriuretic peptide as a marker for rejection in pediatric heart transplant recipients.

We analyzed 211 consecutive plasma B-type natriuretic peptide (BNP) measurements in 59 pediatric heart transplant patients along with echocardiographic and right ventricular endomyocardial biopsy samples. Patients with a biopsy specimen negative for rejection had significantly lower BNP levels than those patients with a biopsy positive (p