Fetal Massive Pericardial Effusion as a Sign of Bilateral Diaphragmatic Agenesis: A Case Report

Abstract

Congenital diaphragmatic hernia (CDH) is an unusual fetal malformation that requires early diagnosis and treatment. Commonly, presentations are in the left side (85%), followed by right (13%) and only very few (2%) bilateral. The last one is a severe condition associated with high mortality rates, and very rarely these cases survive for surgical treatment. We describe the case of a 34-week male fetus with pericardial effusion in transabdominal ultrasound. Pericardiocentesis was performed, and the presence of liver was noticed at the thoracic cavity, confirming a diaphragmatic hernia. The newborn presented acute respiratory distress and died 1 hour after birth. Necropsy revealed complete diaphragmatic agenesis, pulmonary hypoplasia, and incomplete intestinal malrotation. Survival of these patients depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with incomplete intestinal malrotation is a rare entity, and its significance requires further research.