Intensive care medicine

Fetoscopy

Extracorporeal membrane oxygenation

Biology

Hypoplasia

Surgery

Prenatal diagnosis

Fetus

Cardiology

Pulmonary hypoplasia

Hernia

Congenital diaphragmatic hernia

Genetics

Internal medicine

Pulmonary hypertension

Arthrogryposis

Diaphragmatic hernia

Medicine

Lung

Pregnancy

Nature Reviews Disease Primers

Congenital diaphragmatic hernia (CDH) is a rare birth defect characterized by incomplete closure of the diaphragm and herniation of fetal abdominal organs into the chest that results in pulmonary hypoplasia, postnatal pulmonary hypertension owing to vascular remodelling and cardiac dysfunction. The high mortality and morbidity rates associated with CDH are directly related to the severity of cardiopulmonary pathophysiology. Although the aetiology remains unknown, CDH has a polygenic origin in approximately one-third of cases. CDH is typically diagnosed with antenatal ultrasonography, which also aids in risk stratification, alongside fetal MRI and echocardiography. At specialized centres, prenatal management includes fetal endoscopic tracheal occlusion, which is a surgical intervention aimed at promoting lung growth in utero. Postnatal management focuses on cardiopulmonary stabilization and, in severe cases, can involve extracorporeal life support. Clinical practice guidelines continue to evolve owing to the rapidly changing landscape of therapeutic options, which include pulmonary hypertension management, ventilation strategies and surgical approaches. Survivors often have long-term, multisystem morbidities, including pulmonary dysfunction, gastroesophageal reflux, musculoskeletal deformities and neurodevelopmental impairment. Emerging research focuses on small RNA species as biomarkers of severity and regenerative medicine approaches to improve fetal lung development. Congenital diaphragmatic hernia is a rare birth defect associated with cardiopulmonary complications and high mortality and morbidity. This Primer describes the epidemiology and mechanisms of congenital diaphragmatic hernia and discusses diagnosis, management and quality of life for patients.