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Congenitally Corrected Transposition of the Great Arteries in Utero: Morphological Spectrum, Outcomes and Pitfalls in Fetal Diagnosis

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Abstract

Congenitally corrected transposition of the great arteries (ccTGA) is a rare malformation with diverse morphology. We assessed features of fetuses with ccTGA and evaluated neonatal and pediatric outcomes. This was a retrospective review of fetuses with ccTGA at Birmingham Women’s and Children’s Hospital born from 2005 to 2019. Of thirty-six fetuses identified, six had unavailable prenatal data, one was postnatally diagnosed with isomerism and 29 fetuses were evaluated. ccTGA without associated cardiac lesions was found in 28% (8/29), ccTGA with significant VSD in 31% (9/29), ccTGA with pulmonary obstruction in 24% (7/29) and ccTGA with complex anomalies in 17% (5/29). Tricuspid regurgitation (TR) was observed in 17% (5/29) and heart block (HB) in 10% (3/29) prenatally. Six, that is 21% underwent genetic testing of which one was abnormal. Five extra-cardiac anomalies were reported prenatally and postnatally. Pregnancy was discontinued in five, of which two had moderate TR. There were thirty-one liveborn. Coarctation of the aorta was found in five postnatally but not suspected prenatally. In one, pulmonary stenosis was underestimated; otherwise, prenatal morphology was confirmed. Cardiac interventions were performed in 77% (24/31) liveborn with 39% (12/31) undergoing neonatal intervention. Overall, 6/31 liveborn died including all three with prenatal heart block and one with TR. Estimated survival for all liveborn at 1, 5 and 10 years was 87% (95% CI 76–100%), 83% (95% CI 72–98%) and 80% (95% CI 66–96%) respectively. Accurate prenatal diagnosis of ccTGA is critical for counseling. Early outcomes are favorable with 77% of liveborn undergoing surgery. Fetuses with prenatal diagnosis of complex associated abnormalities, HB and TR appear to do less well.

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Acknowledgements

The author would like to thank the medical and nursing members including cardiac physiologists and fetal sonographers of the fetal, neonatal, cardiac and intensive care units for their contribution to patient pathway.

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Authors and Affiliations

  1. Department of Paediatric Cardiology, Birmingham Children’s Hospital, Birmingham, UK

    Maria Kavga, Adeolu Banjoko, Esther Poole, John Stickley, Tarak Desai, Paul Miller, Michael Harris, Adrian Crucean & Anna N. Seale

  2. Department of Paediatric Cardiac Surgery, Birmingham Children’s Hospital, Birmingham, UK

    Natasha Khan

  3. Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK

    Anna N. Seale

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  1. Maria Kavga
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  2. Adeolu Banjoko
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  3. Esther Poole
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  4. John Stickley
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  6. Paul Miller
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  7. Michael Harris
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MK, AB and AS wrote the manuscript. EP prepared the figures. JS performed the statistical analysis. All authors reviewed the manuscript.

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Correspondence to Maria Kavga.

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Kavga, M., Banjoko, A., Poole, E. et al. Congenitally Corrected Transposition of the Great Arteries in Utero: Morphological Spectrum, Outcomes and Pitfalls in Fetal Diagnosis. Pediatr Cardiol 45, 1089–1099 (2024). https://doi.org/10.1007/s00246-024-03468-y

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