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.

Zusammenfassung

Ziel Die kongenitale korrigierte Transposition der großen Arterien (cc-TGA) ist ein seltener angeborener Herzfehler, der pränatal immer noch schwer zu diagnostizieren ist. Unser Ziel ist die Untersuchung des Krankheitsverlaufs, die damit verbundenen Anomalien und das Outcome von Patienten mit pränatal diagnostizierter cc-TGA.

Methode Internationale multizentrische retrospektive Analyse von Föten mit Diagnose einer cc-TGA von 2002 bis 2017. Wir haben klinische und echokardiografische Datenbanken von 7 Zentren überprüft. Die anatomische Untersuchung und die fetale Echokardiografie wurden nach den internationalen Richtlinien der ISUOG durchgeführt.

Ergebnisse Wir untersuchten 69 Föten mit pränatalem Verdacht auf cc-TGA. Die Gesamtüberlebensrate von 54 Patienten mit bestätigter Diagnose betrug 91 %. Das Überleben bis zur Lebendgeburt betrug 96 % (52/54) und das Überleben auf Intention-to-treat-Basis 94 % (49/52). Das mittlere Gestationsalter zum Zeitpunkt der Diagnose betrug 25,6 ± 5,9 Wochen. Bei 7 von 54 Föten (13 %) war die cc-TGA ein isolierter Befund. Dextro-/Mesokardie trat in 15 Fällen auf (27,8 %). Intrakardiale Anomalien waren in 46/54 Fällen (85,2 %) vorhanden, wobei die häufigste Anomalie ein ventrikulärer Septumdefekt bei 41 Föten (75,9 %) war. In 10 Fällen wurde ein kompletter Herzblock diagnostiziert (18,5 %). Extrakardiale Anomalien wurden in 9 von 54 Fällen (16,7 %) beobachtet. Bei 30/54 (55,6 %) Föten wurde eine pränatale Karyotypisierung durchgeführt und ergab chromosomale Anomalien bei 4/30 (13,3 %).

Schlussfolgerung cc-TGA ist ein seltener Herzfehler, der oft von einem variablen Spektrum weiterer intrakardialer Anomalien begleitet wird. In Hinblick auf cc-TGA ist eine treffsichere Diagnose, die in die Aufklärung der Eltern aufgenommen werden kann, mit einem günstigen Kurzzeit-Outcome für die betroffenen Neugeborenen möglich.

Key words

congenital heart disease - fetal echocardiography - fetal imaging - fetal ultrasound - congenital corrected transposition of the great arteries

Publication History

Received: 06 July 2019

Accepted: 07 November 2019

Article published online:
29 January 2020

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