Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.
• Patient that has been diagnosed by clinical team with a congenital TED OR family member to the TED diagnosed patient.
• Willingness to donate biological specimens.
• Ability to consent/assent as appropriate.
• Infant born between 24 and 42 weeks PMA.
• TED diagnosed by clinical team.
• Inpatient in the Neonatal Intensive Care Unit (NICU) OR family member to the inpatient in the NICU.
• Willingness to donate biological specimens.
• Ability to consent/assent as appropriate.
• Infant born between 24 and 42 weeks PMA.
• TED diagnosed by clinical team.
• Inpatient in the CCHMC (Cincinnati Children's Hospital Medical Center) NICU.
• Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.
• Infant and biological parents are participating in the NICU TED cohort.
• Ability to consent/assent as appropriate.
• Infant born between 24 and 42 weeks post menstrual age (PMA).
• No tracheal or esophageal defects.
• Inpatient in the CCHMC NICU.
• Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.