Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients (TED)

  • End date
    Jan 25, 2024
  • participants needed
  • sponsor
    Children's Hospital Medical Center, Cincinnati
Updated on 27 February 2022


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 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. The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition and to determine if an MRI is a more effective way of evaluating the TEDs.


TEDs (tracheal esophageal birth defects) are a life threatening congenital disorder with multiple long term complications. Occurring in 1 in 2,500 to 4,500 live births, TEDs include tracheal malformations such as tracheomalacia, laryngotracheoesophageal clefts, tracheal agenesis, tracheal stenosis, tracheal bronchus, esophageal bronchus and esophageal malformations such as esophageal atresia (EA), tracheal esophageal fistula (TEF), and esophageal duplication. TEDs likely have a genetic basis, but in most cases the specific mutations are unknown. The most commonly diagnosed TED, requiring neonatal hospitalization, is EA/TEF. The familial recurrence rate of EA/TEF is 1% suggesting many result from de novo mutations and while environmental factors may have a minor influence, the mechanisms are unclear. The investigators hypothesize that patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. Currently the diagnosis is confirmed only with a plain chest x-ray showing a coiled feeding tube within the upper esophageal pouch. This approach does not determine the anatomic subtype of EA/TEF, the number or location of TEFs, the size of the gap between proximal and distal esophagus, or the presence of tracheomalacia. Many have evaluated preoperative laryngotracheo-bronchoscopy (LTB) and others have evaluated preoperative computerized tomography (CT) scanning to decrease the unknown factors associated with x-ray, but despite their potential benefits, they have great drawbacks. Therefore, there is a compelling need to develop noninvasive non ionizing imaging methods to evaluate TED infants. Magnetic Resonance Imaging (MRI) is an ideal candidate to fill this role in that it provides non-invasive high resolution anatomic and functional information. Here the investigators propose a preliminary study performing exome sequencing on samples from these patients and their biologically related family members. The investigators will also use advanced, non-invasive MR imaging techniques to assess TE, lung, and cardiac morphology and function in NICU patients.

Condition Tracheoesophageal Fistula, Esophageal Atresia, Laryngeal Cleft, Tracheal Stenosis, Bronchial Stenosis, Esophageal Bronchus, Congenital High Airway Obstruction Syndrome
Clinical Study IdentifierNCT03455881
SponsorChildren's Hospital Medical Center, Cincinnati
Last Modified on27 February 2022


Yes No Not Sure

Inclusion Criteria

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

Exclusion Criteria

Infant is on ECMO
Evidence of congenital diseases that may affect ability to tolerate MRI
Standard MRI exclusion criteria as set forth by the CCHMC Department of Radiology. This includes any contraindications from tracheostomy tubes that are not MR compatible
Inability to provide consent
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