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Congenital diaphragmatic hernia (CDH) is a developmental defect where abnormal formation of the diaphragm allows abdominal organs to herniate into the thoracic cavity during fetal development. This condition occurs in approximately 1 in 2,500 to 5,000 live births and can range from mild to life-threatening depending on the size of the defect and degree of lung compression.
CDH results from incomplete fusion of the pleuroperitoneal folds during the 8th-10th weeks of gestation, most commonly affecting the left posterolateral diaphragm (Bochdalek hernia). The herniated abdominal contents compress the developing lungs, leading to pulmonary hypoplasia, reduced alveolar number, and abnormal pulmonary vascular development with persistent pulmonary hypertension.
Newborns with CDH present with respiratory distress, cyanosis, and a scaphoid abdomen due to abdominal contents in the chest. Chest X-ray reveals bowel loops or other abdominal organs in the thoracic cavity with mediastinal shift away from the affected side. Management requires immediate respiratory support, surgical repair after stabilization, and treatment of associated pulmonary hypertension with careful ventilatory strategies.
Key imaging focus: Bowel loops in thorax, mediastinal shift, absent stomach bubble in abdomen