Rare Diagnosis of a Case of Simultaneous Esophageal Atresia and Renal Agenesis Based on Prenatal Ultrasound

Esophageal atresia is a rare congenital defect in 5-8% of pregnancies with difficult diagnosis due to its association with tracheoesophageal fistula. Although there is no known etiology for this complication, and seems to be sporadic, there is an emphasis on the chromosomal assessment in these cases.

This study examines a case of accidental diagnosis of esophageal atresia during pregnancy. A gravida one, a 39-year-old woman with a gestational age of 37 weeks and a diagnosis of cholestasis of pregnancy along with polyhydramnios and fetal growth retardation is hospitalized. Repeat ultrasound shows polyhydramnios, small stomach, and concurrent renal agenesia.

Previously, it was thought that the diagnosis of esophageal atresia with ultrasound has low sensitivity, as the finding of polyhydramnios and non-detection of the fetal stomach at the same time could be due to facial anomalies, nervous system anomalies in fetal swallowing, and herniated diaphragm, but accuracy and attention to other abnormalities can help in better management of the newborn.