Diaphragmatic hernia in children: A mini-review

Abstract

The condition known as congenital diaphragmatic hernia (CDH) is an extremely uncommon birth defect that is characterized by incomplete closure of the diaphragm and herniation of fetal abdominal organs into the chest. This leads to pulmonary hypoplasia, postnatal pulmonary hypertension due to vascular remodeling, and cardiac dysfunction. The severity of cardiopulmonary pathophysiology is directly related to the high mortality and morbidity rates that are associated with CDH. Even though the etiology is still a mystery, it is believed that approximately one-third of cases of CDH have a polygenic origin. Antenatal ultrasonography, fetal magnetic resonance imaging (MRI), echocardiography, and other diagnostic procedures are typically used in conjunction with antenatal ultrasound to diagnose CDH. Prenatal management can include fetal endoscopic tracheal occlusion, which is a surgical intervention aimed at promoting lung growth in utero. This type of treatment is only available at specialized centers. In severe cases, postnatal management may involve extracorporeal life support in addition to the standard focus on cardiopulmonary stabilization. The rapidly shifting landscape of therapeutic options, which includes the management of pulmonary hypertension, various ventilation strategies, and surgical approaches, is one of the primary factors driving the ongoing development of clinical practice guidelines. Survivors frequently suffer from long-term morbidities that affect multiple body systems, such as pulmonary dysfunction, gastroesophageal reflux disease, musculoskeletal deformities, and impaired neurodevelopment. Research that is just getting started focuses on small RNA species as potential severity biomarkers and regenerative medicine approaches to improve the development of fetal lungs.