Pulmonary Hypoplasia

Pulmonary hypoplasia is a rare but clinically significant congenital disorder characterized by impaired fetal lung development, leading to impaired growth and maturation of lung parenchyma and pulmonary vasculature. Stemming from a diverse group of underlying etiologies including congenital diaphragmatic hernia, congenital lung malformations, and prolonged oligohydramnios, the clinical presentation of pulmonary hypoplasia is highly variable. Although many factors affect severity of disease, pulmonary hypoplasia can be life-threatening and accounts for a disproportionately high proportion of neonatal morbidity and mortality. Advances in fetal ultrasonography and fetal magnetic resonance imaging have improved the ability to evaluate the severity of pulmonary hypoplasia before birth and predict clinical outcomes. Prenatal interventions like fetal endoscopic tracheal occlusion or serial amnioinfusions have showed promise in helping alleviate lethal pulmonary hypoplasia, but ongoing research is required to identify techniques that mitigate the associated complications and morbidities. Postnatal management requires multidisciplinary and individualized care, with management tailored toward gentle ventilatory support and surgical management of the underlying cause when applicable. Severe respiratory failure and pulmonary hypertension are hallmarks of severe cases, and extracorporeal membrane oxygenation support is sometimes required. Although advances in care from fetal diagnosis through long-term follow-up have improved survival in some groups, long-term survivors still exhibit persistent impairments in growth, pulmonary function, and neurodevelopment. Infants with pulmonary hypoplasia continue to have high morbidity and mortality, and ongoing research is required to optimize their clinical outcomes.