EP06.01: Prenatal diagnosis of a rare congenital esophageal lung

A 34-year-old primigravida underwent fetal echocardiography at 23+6 weeks, revealing a discrepancy in right and left lung size, a diagnosis of infracardiac total anomalous pulmonary venous connection (TAPVC) was suggested, and a connection between lower esophagus and right lung was indicated further. Following counselling, termination was chosen by parents. Whole exome sequencing revealed mutations in CTNNA2/SH3PXD2B, autopsy and pathological examinations confirmed the diagnosis of fetal esophageal lung (EL) combined with infracardiac TAPVC. EL is a rare form of communicating bronchopulmonary foregut malformation, characterised by an abnormal connection between respiratory tract and esophagus or stomach, often co-occurring with malformations of pulmonary and vascular systems, diaphragm, upper gastrointestinal tract etc. To our knowledge, this is the first reported case of EL with infracardiac TAPVC. Traditional diagnostic modalities for EL have predominantly relied on postnatal radiologic evaluations, however, our case underscores the importance of thorough prenatal evaluation. The identification of lung size disparity provided a pivotal clue, prompting further investigation into the bronchial trunk and its branches, which ultimately revealed a suspicious communication between the right main bronchus and the esophagus. The developmental basis of EL and the formation of the foregut-derived trachea and esophagus remain poorly understood, our case showed a CTNNA2/SH3PXD2B mutations, further genetic studies are warranted. Overall, our case enhances the comprehension of EL malformation types and highlights the potential of prenatal diagnosis in guiding clinical management. 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.