Congenital cardiac anomalies detected in fetal autopsies: a case series

Authors

  • Swathi Srinivas Department of Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Bharath Vignesh R. K. Department of Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Priyathersini Nagarajan Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Chitra Kalaivanan Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Leena Dennis Joseph Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20251104

Keywords:

Congenital cardiac anomalies, Fetal autopsies, Tetralogy of Fallot, Single ventricle, Patent ductus arteriosus, Hypoplastic left heart syndrome, Transposition of great arteries, DiGeorge syndrome, Amniotic band syndrome

Abstract

Congenital cardiac anomalies are among the most common structural malformations of the developing fetus and account for a high percentage of fetal morbidity and mortality. Timely detection and comprehensive assessment are important in prenatal care, allowing for appropriate parental counseling and directing possible therapeutic interventions. Although significant advances in prenatal imaging modalities, especially fetal echocardiography and ultrasonography, have increased the rate of antenatal detection, some of these anomalies are only diagnosed during post-mortem examinations. Fetal autopsy continues to be a useful means of validating prenatal diagnoses and revealing unsuspected anomalies, particularly in the setting of intrauterine fetal loss or pregnancy interruption after the detection of fetal abnormalities. The anatomical information obtained from fetal autopsy is essential in the comprehension of congenital cardiac malformations, their related anomalies, and the possible genetic and environmental determinants of their development. This paper is a collection of congenital cardiac defects identified at fetal autopsy and the very significant role of post-mortem examinations in improving diagnostic sensitivity and affecting future clinical management.

 

Metrics

Metrics Loading ...

References

Meller CH, Grinenco S, Aiello H, Córdoba A, Sáenz-Tejeira MM, Marantz P, et al. Congenital heart disease, prenatal diagnosis and management. Arch Argent Pediatr. 2020;118(2):149-61.

Li H, Wei J, Ma Y, Shang T. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis. J Zhejiang Univ Sci B. 2005;6(9):903-6. DOI: https://doi.org/10.1631/jzus.2005.B0903

Abishake J, Ninave S, Keerti A. A Compendium on Perinatal Autopsy in Neonats. Cureus. 2023;15(1):33878. DOI: https://doi.org/10.7759/cureus.33878

Apitz C, Webb GD, Redington AN. Tetralogy of Fallot. Lancet. 2009;374(9699):1462-71. DOI: https://doi.org/10.1016/S0140-6736(09)60657-7

Garagiola ML, Thorne SA. Pregnancy Considerations in Tetralogy of Fallot. CJC Pediatr Congenit Heart Dis. 2023;2(6):301-13. DOI: https://doi.org/10.1016/j.cjcpc.2023.09.008

Rao PS. Single Ventricle-A Comprehensive Review. Children (Basel). 2021;8(6):441. DOI: https://doi.org/10.3390/children8060441

Hamrick SEG, Sallmon H, Rose AT, Porras D, Shelton EL, Reese J, Hansmann G. Patent Ductus Arteriosus of the Preterm Infant. Pediatrics. 2020;146(5):1209. DOI: https://doi.org/10.1542/peds.2020-1209

Kritzmire SM, Cossu AE. Hypoplastic Left Heart Syndrome. 2023. In: StatPearls. Treasure Island (FL): StatPearls Publishing. 2024.

Martins P, Castela E. Transposition of the great arteries. Orphanet J Rare Dis. 2008;3:27. DOI: https://doi.org/10.1186/1750-1172-3-27

Szymanski MW, Moore SM, Kritzmire SM, Goyal A. Transposition of the Great Arteries. 2023 Jan 15. In: StatPearls. Treasure Island (FL). 2023.

McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18. DOI: https://doi.org/10.1097/MD.0b013e3182060469

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071. DOI: https://doi.org/10.1038/nrdp.2015.71

López-Muñoz E, Becerra-Solano LE. An update on amniotic bands sequence. Arch Argent Pediatr. 2018;116(3):409-20. DOI: https://doi.org/10.5546/aap.2018.eng.e409

Lockwood C, Ghidini A, Romero R, Hobbins JC. Amniotic band syndrome: re-evaluation of its pathogenesis. Am J Obstet Gynecol. 1989;160(1):1030-3. DOI: https://doi.org/10.1016/0002-9378(89)90153-1

Downloads

Published

2025-04-24

How to Cite

Srinivas, S., K., B. V. R., Nagarajan, P., Kalaivanan, C., & Joseph, L. D. (2025). Congenital cardiac anomalies detected in fetal autopsies: a case series. International Journal of Contemporary Pediatrics, 12(5), 818–825. https://doi.org/10.18203/2349-3291.ijcp20251104

Issue

Section

Case Series