Tracheal Agenesis in Newborns

Objectives/Hypothesis: A series of three newborns with tracheal agenesis is described. The preferred methods of diagnosis, description of the clinical course, and a review of the pertinent embryology, associated anomalies, and clinical management are presented. Study Design: A retrospective study of a clinical series of referred patients from 2002 to 2003 who were seen at a single institution. Methods: Chart review for clinical course and pathological specimens was performed in all cases. Three patients were identified with tracheal agenesis. Results: All three newborns died within 48 hours of birth. All of the children underwent emergency laryngoscopy and neck exploration. Gross and microscopic pathological examination was accomplished on all patients. Conclusion: Although tracheal agenesis is rare, it may be more common than previously thought. The diagnosis is not straightforward, and the prognosis is grim. The embryology of the trachea and other foregut derivatives is closely related, and associated birth defects are common.