VP52.01: Fetoscopic prenatal diagnosis of esophageal atresia with tracheoesophageal fistula associated with congenital diaphragmatic hernia

The association of congenital diaphragmatic hernia (CDH) with esophageal atresia (EA) is very rare. Prenatal suspicion might be of great help in organising immediate postnatal management. We report a case of a 27w fetus diagnosed with a severe left CDH, with liver herniation and an O/E LHR of 23%. The presence of polyhydramnios together with the difficulty to visualise the stomach raised the suspicion of EA. Genetic testing revealed normal CGH array and clinical exome. Since the CDH was classified as severe with an expected survival of 15%, a fetal endoscopic tracheal occlusion was offered to parents after multidisciplinary counselling. Fetoscopy performed at 31w showed the identification of 1) the proximal pouch by direct access to the esophagus and 2) a small defect in the upper posterior segment of the trachea (figure A). Both findings were consistent with the diagnosis of EA with tracheoesophageal fistula (TEF). Two weeks later, a second fetoscopy was performed to remove the balloon at 33.4w. During the procedure a 1 mm catheter was carefully inserted through the tracheal defect under combined endoscopic and ultrasonographic control. The instillation of 5 ml of saline solution made it possible to verify the distal filling and distension of the stomach (figure B) at the level of the thorax by ultrasound, confirming the diagnosis of distal TEF (type C, Gross classification). After delivery, the neonate underwent hernia surgery at 48 hours of age, and the TEF was closed. However, after several complications and entry into ECMO, the baby died at 10 days of life. To the best of our knowledge, this is the first report on a prenatal endoscopic assessment and characterisation of an EA/TEF combined with a CDH. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.