Congenital diaphragmatic hernia: a comprehensive review of pathogenesis, genetics, clinical features, and risk...

Congenital diaphragmatic hernia (CDH) is a rare and complex developmental disorder characterized by diaphragmatic defects, pulmonary hypoplasia, and persistent pulmonary hypertension, leading to significant neonatal morbidity and mortality. This review summarizes current knowledge on the pathogenesis, genetic background, clinical features, and risk stratification of CDH. The etiology is multifactorial, involving genetic mutations, chromosomal abnormalities, and environmental influences, with key molecular pathways including the retinoic acid and Sonic Hedgehog signaling pathways. Advances in pre-natal diagnosis, particularly the ultrasound-based lung-to-head ratio and magnetic resonance imaging-derived total fetal lung volume, have improved prognostic assessment. Post-natal risk stratification using clinical parameters and scoring systems further guides management and predicts outcomes. Despite improvements in neonatal intensive care and surgical techniques, long-term morbidity remains a major concern. A comprehensive understanding of CDH pathophysiology and the integration of pre-natal and post-natal risk assessment are essential for optimizing individualized management strategies and improving survival and long-term outcomes.