Congenital Diaphragmatic Hernia in the Newborn: Towards a Literature-Based Management

Abstract

Congenital diaphragmatic hernia (CDH) is a structural defect in the development of the diaphragm that allows abdominal viscera to herniate into the thoracic cavity, causing significant respiratory and hemodynamic compromise in the newborn. Its incidence is estimated at 1 in 2,500–5,000 live births, and mortality remains high despite advances in neonatal support, surgery, and perioperative care. The defect arises from the failure of the pleuroperitoneal folds to close between the fourth and tenth weeks of gestation, resulting in an incomplete diaphragm and abnormal communication between the thorax and abdomen. 

Prenatal diagnosis is achieved in approximately 60% of cases, primarily through obstetric ultrasound and, in some instances, fetal magnetic resonance imaging. Early detection allows for delivery planning in specialized centers, prenatal assessment of pulmonary hypertension risk, and preparation of the multidisciplinary team for immediate neonatal stabilization.

Despite early recognition, management challenges include providing adequate respiratory support, controlling pulmonary hypertension, stabilizing hemodynamics, and determining the optimal timing for surgical repair. Therefore, a standardized management protocol based on the most current evidence is essential, integrating recommendations from neonatology, pediatric surgery, and perinatology.

This review summarizes the current literature on CDH and proposes a comprehensive management protocol aimed at optimizing care for affected newborns, reducing associated morbidity and mortality, and standardizing clinical practice in specialized neonatal units. The proposed protocol may serve as a practical guide for multidisciplinary teams and as a foundation for future studies assessing implementation and clinical outcomes.