Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.

Hypoxemic respiratory failure is a common reason for admission to the neonatal intensive care unit for term and late preterm infants. Some infants have rare disorders due to genetic mechanisms including surfactant dysfunction disorders, alveolar capillary dysplasia with misalignment of the pulmonary veins, and other developmental lung disorders that result in more severe, persistent, and even fatal disease. In this article, we summarize clinical characteristics of the most common causes of neonatal respiratory failure and of rare genetic causes, to help clinicians differentiate between common and rare causes and to aid in clinical decision-making including timing of genetic testing.