Congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia (CDH) is characterized by the herniation of abdominal organs into the fetal chest through a diaphragmatic defect. The mortality and morbidity rates of babies with CDH remain high, and are directly related to the degree of pulmonary hypoplasia (lung underdevelopment) and the severity of pulmonary hypertension. CDH is typically diagnosed antenatally and observed/expected lung-to-head ratio is a common prenatal prognostic marker of pulmonary hypoplasia. Newborns with CDH often have life-threatening respiratory distress for which immediate intubation at birth is recommended. Moreover, they are usually managed with gentle ventilation, which allows permissive hypercapnia and aims to provide adequate tissue oxygenation, while avoiding barotrauma. Some patients are managed with extracorporeal membrane oxygenation (ECMO) that provides rest to the hypoplastic lungs, allowing them to grow and avoiding ventilation-induced barotrauma. When the neonate is clinically stable, the diaphragmatic repair is performed either from the abdomen (laparotomy or laparoscopy) or from the chest (thoracotomy or thoracoscopy). Large defects that cannot be closed primarily are closed with a synthetic or natural patch. CDH is associated with short-and long-term morbidities; the latter are better addressed in a dedicated multidisciplinary clinic.