Congenital diaphragmatic hernia, development, fetal anomalies, polycystic kidney: A rare fetal autopsy case with literature review

Congenital diaphragmatic hernia (CDH) is a relatively rare disorder in which the thoracic and abdominal compartments can communicate because the diaphragm does not fully form or fuse during embryologic development. Polycystic kidney disease (PKD) is a genetic disorder characterized by the formation of many renal cysts, which can affect kidney function. The co-occurrence of CDH and PKD in a fetus is highly unusual and provides major hurdles to prenatal diagnosis and management. This case report describes the prenatal diagnosis of CDH with PKD in the second trimester of pregnancy, highlighting the clinical presentation, imaging results, and fetal autopsy findings. The diagnosis was confirmed through detailed ultrasonography, which revealed herniation of abdominal organs into the thoracic cavity and the presence of cystic renal changes. Based on a literature review, there are very few documented examples of CDH and PKD coexisting. The degree of renal failure and the severity of pulmonary hypoplasia determine the prognosis in these cases. To maximize results, we discuss the significance of multidisciplinary management, including pediatric surgery, neonatology, and maternal-fetal medicine. This case contributes to the growing body of knowledge about rare fetal abnormalities and highlights the importance of comprehensive prenatal care and early diagnosis in informing clinical decision-making.