Congenital diaphragmatic hernia: a review of the diagnosis and management

Abstract

Congenital diaphragmatic hernia (CDH) is a rare developmental malformation of the diaphragm due to a defect in the closure of the pericardioperitoneal canals during embryological development. It is characterized by herniation of abdominal contents into the thorax, compromising pulmonary development. It has an estimated annual prevalence of 1 to 4 cases in 10,000 live births. Most cases are sporadic and multifactorial, including environmental and genetic factors, or in association with other congenital malformations; both alter the differentiation of mesenchymal cells in the process of diaphragm formation. The most frequent form is Bochdalek hernia (more than 95% of cases), described as a posterolateral defect that predominates on the left side. The most relevant consequences are pulmonary hypoplasia and persistent pulmonary hypertension, responsible for the morbidity and mortality associated with CDH. Currently, the approach to this pathology is based on timely diagnosis and identification of the severely affected fetuses to allow planning for delivery or new in utero therapies, which are still under constant study. This article presents an updated review of the diagnosis and pre- and postnatal treatment of CDH.