Strategies for the Neonatal Lung Biopsy: Histology to Genetics

Abstract

Neonatal lung biopsy guides important medical decisions when the diagnosis is not clear from prior clinical assessment, imaging, or genetic testing. Common scenarios that lead to biopsy include severe acute respiratory distress in a term neonate, pulmonary hypertension disproportionate to that expected for gestational age or known cardiac anomalies, and assessment of suspected genetic disorder based on clinical features or genetic variant of unknown significance. The differential diagnosis includes genetic developmental disorders, genetic surfactant disorders, vascular disorders, acquired infection, and meconium aspiration. This article describes pathologic patterns in the neonatal lung and correlation with molecular abnormalities, where appropriate.

Keywords: Alveolar capillary dysplasia; Genetic disorders; Hypoplasia; Lung biopsy; Neonate; Prematurity; Surfactant.