Congenital Lung Malformation Diagnosis and Management

Congenital lung malformations encompass a spectrum of developmental anomalies including congenital pulmonary airway malformation, bronchopulmonary sequestration, congenital lobar emphysema and bronchogenic cysts. These lesions are frequently detected on routine antenatal ultrasound, with volumetric measurements aiding risk stratification and the prediction of hydrops. Postnatal imaging, traditionally reliant on computed tomography, delineates anatomy and vascular supply but entails ionising radiation. Recent advances have introduced non-contrast magnetic resonance protocols that reduce exposure while preserving diagnostic accuracy. Molecular profiling via bulk and single-cell transcriptomics has begun to unravel the pathogenesis of microcystic variants, revealing dysregulation in signalling pathways such as G protein-coupled receptor and PI3K–AKT cascades. Management remains controversial for asymptomatic infants, balancing the risk of infection or malignancy against surgical morbidity. Video-assisted thoracoscopic segmentectomy has emerged as a parenchyma-sparing alternative to lobectomy, offering reduced blood loss and shorter hospital stays, albeit with a slightly elevated risk of persistent air leak. Prenatal interventions, including maternal corticosteroid administration, can regress microcystic lesions in utero. A multidisciplinary approach integrating prenatal assessment, advanced imaging, molecular diagnostics and evolving minimally invasive surgery underpins optimal outcomes and informs guidelines for diverse healthcare settings.

Research from Nature Portfolio

Recent studies have evaluated the feasibility of parenchyma-sparing lung resections in children with congenital lung malformations. A multi-centre retrospective analysis examined video-assisted thoracoscopic (VATS) segmentectomy in a cohort of paediatric patients, comparing outcomes with the standard VATS lobectomy. The segmentectomy group demonstrated comparable operative times and postoperative recovery but experienced a higher rate of persistent air leakage. No intraoperative mortality was observed, and both approaches achieved durable mid-term outcomes without re-intervention. These findings support the technical viability of VATS segmentectomy as an alternative to lobectomy, particularly in centres with thoracoscopic expertise, and underscore the need for tailored surgical planning to minimise complications.

Congenital Lung Malformation Diagnosis and Management publication trend

The graph below shows the total number of articles in congenital lung malformation diagnosis and management across all publications each year (not limited to Nature Index journals).

Technical terms

Congenital pulmonary airway malformation (CPAM): A developmental cystic lung lesion characterised by abnormal branching of the airway, leading to multicystic masses within the lung.

Bronchopulmonary sequestration: A non-functioning segment of lung tissue that lacks normal bronchial communication and receives systemic arterial blood supply.

Video-assisted thoracoscopic surgery (VATS) segmentectomy: A minimally invasive technique that removes a defined lung segment while preserving uninvolved parenchyma.

Bulk RNA sequencing: A method for analysing the collective gene-expression profile of tissue samples to identify dysregulated pathways.

Single-cell RNA sequencing: A high-resolution approach to profile gene expression at the level of individual cells, revealing cellular heterogeneity within lesions.

G protein-coupled receptor (GPCR) signalling: A key cell-surface receptor pathway that transduces extracellular signals into intracellular responses, implicated in lung development and malformation.

PI3K–AKT signalling: An intracellular cascade regulating cell growth, survival and metabolism, whose perturbation can contribute to anomalous lung development.

References

1. Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM. Cell & Bioscience (2024).
2. Congenital lung abnormalities on magnetic resonance imaging: the CLAM study. European Radiology (2023).
3. Thoracoscopic segmentectomy in children with congenital lung malformation. Scientific Reports (2023).
4. The Utility of the Congenital Pulmonary Airway Malformation-Volume Ratio in the Assessment of Fetal Echogenic Lung Lesions: A Systematic Review. Fetal Diagnosis and Therapy (2019).