Prenatal Diagnosis of Congenital Diaphragmatic Eventration: Case Report and Structured Literature Review

Objective: To describe a prenatal case of congenital diaphragmatic eventration, describe prenatal presentation and summarize available postnatal outcomes of previously reported cases. Methods: We present a prenatally diagnosed case of congenital diaphragmatic eventration managed at our institution and a structured literature review to identify previously reported prenatal cases published between 1984 and 2025. Results: Congenital diaphragmatic eventration was diagnosed at 20 + 2 weeks’ gestation following suspicion of fetal dextrocardia. Fetal magnetic resonance imaging confirmed diaphragmatic continuity and excluded congenital diaphragmatic hernia. Mild neonatal respiratory distress required only transient continuous positive airway pressure. Nineteen prenatally suspected cases were identified from the literature, most of which were initially misdiagnosed as congenital diaphragmatic hernia (89.5%). Correct prenatal characterization was reported in 57% of cases evaluated with fetal MRI and 25% with ultrasound alone; however, these findings should be interpreted as a descriptive observation due to the limited number and heterogeneity of available reports. Conclusions: Congenital diaphragmatic eventration is a rare but important mimic of congenital diaphragmatic hernia. Fetal magnetic resonance imaging may provide additional anatomical information in selected cases and facilitate counselling and perinatal management.