Prenatal Diagnosis and Outcome of Congenital Corrected Transposition of the Great Arteries – A Multicenter Report of 69 Cases

Abstract

Objective Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA. Method This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG. Results We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91 % among 54 patients with a confirmed diagnosis. Survival to live birth was 96 % (52/54) and survival on an intention-to-treat basis was 94 % (49/52). The mean gestational age at the time of diagnosis was 25.6 ± 5.9 weeks of gestation. In 7 out of 54 fetuses (13 %), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8 %). Intracardiac anomalies were present in 46/54 cases (85.2 %) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9 %). Complete heart block was diagnosed in 10 cases (18.5 %). Extracardiac anomalies were observed in 9 out of 54 cases (16.7 %). Prenatal karyotyping of the fetus was available in 30/54 (55.6 %) cases with chromosomal anomalies in 4/30 (13.3 %). Conclusion ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates.

Prenatal diagnosis, associated findings and postnatal outcome in fetuses with congenitally corrected transposition of the great arteries

“…Due to the rarity of ccTGA, we still know little about the spectrum and the outcome of prenatally diagnosed cases. There are case reports and few retrospective series with a small number of patients similar to our study, one larger study of 98 cases published in 2019 [8] and a series of 69 cases in 2020 [9]. Sharland et al reported on a series of 34 cases focusing on prenatal diagnosis.…”

“…Day et al presented the largest cohort of prenatally diagnosed patients with discordant atrioventricular and ventriculoarterial connections including a postnatal median follow-up of 9.5 years [8]. In their multicenter report, Vorisek et al included 69 fetuses with ccTGA, focusing on the prenatal sonographic features and the confirmation postnatally while there were few information regarding the outcome and follow-up time was short (30 days) [9]. Our study comprises data from 37 prenatally diagnosed fetuses with detailed information regarding time of diagnosis, intrauterine course, maternal characteristics, additional cardiac and extracardiac malformations and a mid-term follow-up (Table 4).…”

“…The majority of cases is associated with additional cardiac defects, such as a ventricular septal defect (VSD), pulmonary outflow tract obstruction, tricuspid valve (TV) anomalies, dextro-/mesocardia, aortic arch anomalies and rhythm disturbances/atrioventricular block [6][7][8][9]. In contrast, the presence of extracardiac or chromosomal anomalies is low [6,7,9].…”

“…Only few studies have described the prenatal finding of a ccTGA in fetuses so far [6][7][8][9]11]. However, providing the diagnosis before birth is essential for better counselling of the parents and postnatal interdisciplinary care.…”

“…However, providing the diagnosis before birth is essential for better counselling of the parents and postnatal interdisciplinary care. While the perinatal outcome is mostly favorable [6,8,9,11], in the further postnatal course development of right ventricle dysfunction, TV regurgitation, complete heart block and congestive heart failure is common [12,13]. It leads to a high rate of surgery, but shows a variable course depending on associated anomalies [8,10,13].…”