Congenital Diaphragmatic Hernia

Abstract

After completing this article, readers should be able to: 1. List the anomalies associated with congenital diaphragmatic hernia (CDH). 2. Delineate methods of determining the severity of CDH. 3. Review the roles of exogenous surfactant, extracorporeal membrane oxygenation, inhaled nitric oxide, sildenafil, and gentle ventilation in the management of CDH. 4. Describe the surgical repair undertaken in CDH. Congenital diaphragmatic hernia (CDH) is an intellectually fascinating and challenging birth defect that too often results in tragic loss for the child and family. Frequently diagnosed ultrasonographically at 20 weeks’ gestation, the diagnosis can overwhelm affected parents who never knew the condition existed and seldom can understand it adequately. Affected newborns face myriad potential issues, including pulmonary insufficiency, pulmonary hypertension, hemodynamic instability, associated cardiac defects, eventual feeding difficulties, and significant risk of dying or of surviving with substantial morbidity. Well-meaning but often inadequately informed physicians and caregivers too frequently view the situation as either hopeless or requiring dramatic but completely unproven prenatal interventions. However, improvements in understanding of CDH physiology coupled with expanding recognition of the negative effects of previously standard postnatal therapies have led to dramatic improvements in CDH survival in many centers. Some argue that the impact on overall CDH survival from these “advances” has been nil, but this is, in large part, due to continued significant rates of pregnancy termination with this diagnosis, rapid adoption of adjuvant CDH treatments, and slower penetration of fundamental changes in CDH therapy. This review examines what is known of the etiology of CDH, details the factors that affect the severity of the condition, describes the pathophysiology facing affected newborns, defines the physiologic basis of modern treatment, and provides examples of the improved survival and outcome experienced at centers that have embraced certain fundamental concepts. A relatively common birth defect, CDH is estimated to occur once in every …