Congenital Anomalies and Surgical Interventions

Congenital anomalies encompass a diverse spectrum of structural and functional disorders arising during embryogenesis, affecting approximately 3–5 per cent of live births worldwide. Among these, thoracoabdominal and midline defects such as sternal clefts, diaphragmatic hernias and ectopia cordis present particular surgical challenges. Advances in antenatal imaging—including high-resolution ultrasound, fetal magnetic resonance imaging and three-dimensional computed tomography angiography—have improved prenatal detection and planning. Pathophysiology often involves perturbations in signalling pathways governing mesodermal migration and ventral body‐wall closure, with genetic and environmental factors contributing. Management requires a coordinated multidisciplinary team that spans maternal–fetal medicine, neonatal intensive care, paediatric cardiology and specialised reconstructive surgery. Timing of intervention is critical: early stabilisation of cardiopulmonary function, followed by staged or single‐stage reconstructive procedures, can optimise outcomes. Novel biomaterials and minimally invasive techniques are increasingly employed to achieve durable chest-wall support while allowing for somatic growth. Despite significant progress, long-term morbidity and neurodevelopmental sequelae remain concerns, underscoring the importance of ongoing research into molecular mechanisms, surgical refinements and perioperative care pathways.

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Congenital Anomalies and Surgical Interventions publication trend

The graph below shows the total number of articles in congenital anomalies and surgical interventions across all publications each year (not limited to Nature Index journals).

Technical terms

Congenital anomaly: A structural or functional abnormality present at birth, arising during intrauterine development.

Ectopia cordis: A rare malformation in which the heart is partially or completely located outside the thoracic cavity.

Pentalogy of Cantrell: A syndrome comprising five defects: midline supraumbilical abdominal wall defect, lower sternal cleft, anterior diaphragmatic defect, pericardial defect and intracardiac anomalies.

Computed tomography angiography (CTA): An imaging technique combining CT scanning with contrast injection to visualise vascular structures in three dimensions.

Diaphragmatic hernia: A defect or hole in the diaphragm allowing abdominal contents to migrate into the thoracic cavity, potentially compromising lung development.

Echocardiography: A non-invasive ultrasound method for visualising cardiac anatomy and function, essential in prenatal and neonatal assessment of heart defects.

References

1. Images of Extremely Rare Cantrell Phenomenon. Diagnostics (2024).
2. Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series. The Journal of Maternal-Fetal & Neonatal Medicine (2023).
3. Cantrell Syndrome—A Rare Complex Congenital Anomaly: A Case Report and Literature Review. Frontiers in Pediatrics (2018).
4. Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse. Scientific Reports (2018).
5. Neo-sternum reconstruction using costal cartilage approximation and small Permacol® patch repair in the treatment of Cantrell pentalogy: a case report. Journal of Cardiothoracic Surgery (2015).