eMedicine Specialties > Pediatrics: Surgery > General Surgery

Congenital Anomalies of the Esophagus: Workup

Author: Robert K Minkes, MD, PhD, Professor of Surgery, University of Texas Southwestern; Chief of Surgical Services, Children's Medical Center of Dallas-Legacy
Coauthor(s): Alison Snyder-Warwick, MD, Research Fellow, Department of Developmental Biology and Department of Surgery, Division of Plastic and Reconstructive Surgery, Washington University School of Medicine; Mark V Mazziotti, MD, Assistant Professor of Pediatric Surgery, Department of Surgery, Baylor College of Medicine, Texas Children's Hospital; Jacob C Langer, MD, Professor, Department of Surgery, University of Toronto Faculty of Medicine
Contributor Information and Disclosures

Updated: Oct 31, 2008

Workup

Laboratory Studies

  • Prenatal laboratory abnormalities have been reported with this anomaly. In cases of unexplained polyhydramnios, amniocentesis may be performed. An elevated alpha-fetoprotein and a positive acetylcholinesterase test result may be observed. Chromosomal analysis is also performed on the amniotic fluid.
  • Routine neonatal and preoperative laboratory tests should be obtained.

Imaging Studies

  • Prenatal ultrasonography: The prenatal detection of esophageal atresia (EA) relies on the ultrasonographic finding of a small or absent fetal stomach bubble associated with maternal polyhydramnios. The positive predictive value of this combination is 56%, and the sensitivity of prenatal ultrasonography in the diagnosis of EA is 42%. The diagnostic accuracy is increased if an anechoic area is also present in the middle fetal neck. Polyhydramnios alone is a poor predictor of EA. Only 1 in 12 patients with polyhydramnios is found to have EA.
  • Prenatal MRI: In one study, fetuses with ultrasonographic evidence of EA underwent single-shot rapid-acquisition MRI.1 Findings were negative if the entire esophagus could be visualized (see Media file 1) and positive if the esophagus was absent in the mid chest (see Media file 2). MRI had a sensitivity of 100% and a specificity of 80%.
  • Plain radiography
    • The inability to pass a rigid nasogastric tube from the mouth to the stomach is diagnostic of EA. The position of the tip of the tube in the upper pouch is confirmed with a chest radiograph (see Media file 3). A small amount of air may be injected into the tube to insufflate the upper pouch. Air in the stomach and intestine suggests the presence of a distal tracheoesophageal fistula (TEF); see Media file 3). A gasless abdomen suggests isolated EA (see Media file 4). In cases of EA and distal TEF, the gap length can be estimated by measuring the distance between the tube in the upper pouch and the carina (see Media file 5). A gap of 3 or more vertebral bodies or 5 cm or longer is considered long. The gap distance for pure EA is difficult to determine without a gastrostomy in place.
    • Plain chest radiography also provides information about the presence of associated congenital anomalies. Pneumonitis; atelectasis; cardiac, vertebral, and rib anomalies; and aortic arch location may be discerned from chest radiographs. A right-sided aortic arch is indicated roentgenographically by a denser shadow on the right side of the mediastinum, a right-sided tracheal indentation, a dilated inlet to the left subclavian artery, and a normal heart configuration.
    • Contrast studies are rarely needed but may be necessary to identify or locate a proximal fistula (see Media file 6). To reduce the complications associated with contrast aspiration, a water-soluble agent should be used. Contrast studies should be performed under fluoroscopic control, and only 0.5-1.0 mL of contrast should be injected and later removed via aspiration.
    • An isolated, or H-type, fistula presents a different radiographic picture, and establishing the diagnosis is often more difficult. Recurrent pneumonia, particularly of the right upper lobe is suggestive of this condition. Contrast studies specifically looking for the fistula are needed. A tube is placed in the esophagus, and dilute barium is instilled into the esophagus, beginning just above the lower esophageal sphincter. As contrast is injected, the tube is slowly withdrawn in a proximal direction. This method typically demonstrates only tracheal filling. The fistula is difficult to visualize. A roentgenographic study using videotape or cinefluoroscopy may show an H-fistula not visible on barium swallows, but bronchoscopy or esophagoscopy are often required to confirm the diagnosis. An amotile or hypomotile esophageal segment in a child with recent pneumonia should also alert a fluoroscopist to the possibility of an H-fistula.
  • CT and MRI scanning: CT and MRI examinations are rarely needed in the evaluation of EA. Both tests are sensitive and specific for visualization of most great vessel anomalies, but the high costs and need for transport limit their use. They are more useful when evaluating a mass, such as a foregut duplication or cyst.
  • Studies to detect duplications: Esophageal duplications are rare. Most are segmental and occur in the posterior mediastinum. Plain chest radiography reveals a round or oval posterior mediastinal mass close to the esophagus, sometimes causing esophageal deviation or compression. The cystic nature of this mass is revealed on CT scanning.
  • Studies to detect rings: Cartilaginous rings are found in the distal third of the esophagus, whereas nonspecific congenital rings are located in the distal two thirds of the esophagus. Tracheobronchial remnants may coexist with EA (see Media file 7). Esophageal rings are typically not apparent on radiography unless the distal esophagus is well distended. Barium may fill linear clefts, ducts, or cystic spaces extending perpendicular to the ring. Fluoroscopic examination reveals thickened annular narrowing at the ring site. Note that rings may spontaneously change in caliber and configuration during fluoroscopy.
  • Studies to detect webs: Esophageal webs are typically located in the proximal esophagus within a few centimeters of the cricopharyngeus. Incomplete webs are placed anteriorly and can be observed only in the lateral projection. Complete webs create a characteristic jet effect distally upon fluoroscopic examination. Just as with esophageal rings, the distal esophagus must be adequately distended in order to visualize the abnormality.
  • Screening for associated congenital anomalies: The presence of other congenital anomalies affects the choice and timing of the repair. Patients with cardiac, pulmonary, chromosomal, and renal anomalies have higher mortality rates. Echocardiography and renal ultrasonography should be used routinely in cases of esophageal anomalies. Echocardiography is used to determine position of the aortic arch. Chromosomal analyses may also be indicated.

Diagnostic Procedures

  • The diagnosis of EA or TEF is suggested by several tests, in addition to the clinical signs discussed above. After birth, inability to pass a rigid radiopaque 10F catheter from the mouth to the stomach suggests EA, and diagnosis is confirmed upon identification of the tube, arrested 9-12 cm from the alveolar ridge, in the upper pouch. Presence of air in the stomach and intestines indicates EA with a distal fistula, whereas absence of abdominal gas suggests pure atresia, EA with a proximal fistula, or, rarely, EA with an occluded distal fistula.
  • A small upper esophageal pouch is suggestive of a proximal fistula, and the presence of a proximal TEF can be confirmed with fluorography, endoscopy, bronchoscopy, or upper esophageal contrast studies. An isolated TEF may be detected by barium esophagraphy, cinefluoroscopy, bronchoscopy, or esophagoscopy. Because of the risk of aspiration, use of contrast for visualization of congenital esophageal anomalies must be approached with extreme care and performed only by an experienced radiologist.
  • Esophagoscopy may be used to identify strictures, webs, or fistulas within the upper pouch. A TEF may be better visualized from the tracheal side during bronchoscopy. Retrograde endoscopy through a gastrotomy allows a 3F or 4F catheter to be placed into the distal esophagus.
  • Bronchoscopy findings confirm the presence of a fistula and are useful in detecting laryngotracheal clefts. Bronchoscopy provides knowledge of the precise fistula location and can be used to identify proximal TEFs or unusual lesions, such as triple TEF. A small Fogarty catheter can be passed through the fistula and used for occlusion in infants too unstable to undergo fistula ligation. The catheter can also serve as a guide during repair.
  • Estimating gap length is important in the preoperative period. Gap length may be determined using various techniques (see Media file 5). High upper pouch, vascular ring, vertebral and rib anomalies, and isolated EA or EA with a proximal fistula are more common if a long gap is present. In children with pure EA who are undergoing staged repair, gap length is monitored by serial gapograms (see Media files 8-10). Contrast is placed through the gastrostomy tube and refluxed into the distal esophagus. The proximal pouch is stretched and visualized with a tube or mercury-weighted dilator (see Media files 8-10). Similarly, a dilator can be placed through a gastrostomy into the distal pouch (see Media file 9).

Histologic Findings

  • During development, the esophageal epithelium undergoes several transitions, from pseudostratified columnar to ciliated columnar. A stratified squamous epithelium appears in the middle third and migrates cranially and caudally until it completely lines the esophagus of the fetus.
  • Variances in the esophageal epithelium are observed in histologic EA examinations. Tracheobronchial remnants (eg, ciliated pseudostratified columnar epithelium, seromucous glands, cartilage) are often observed. Irregular smooth muscle fibers are also observed in the distal esophagus of infants with EA and TEF. Fistula tracts may be lined with ciliated respiratory epithelium that extends variable distances from the fistula origin. In addition, the muscular coat of the fistula tract may be absent at the origin. Tracheobronchial remnants as the histologic cause of congenital esophageal stenosis, an associated anomaly of EA, have also been described.
  • Other congenital anomalies include the following:
    • The histologic investigation of esophageal rings has shown the upper surface to be lined by squamous epithelium, while a columnar epithelium lies below. The ring core consists of a lamina propria with no muscularis mucosa. Inflammation and fibrosis are also absent. Rings may contain tracheobronchial cartilage and respiratory epithelial remnants. The ducts and cystic spaces are typically lined with a respiratory epithelium.
    • Histologic examinations of esophageal webs have shown plications of normal squamous mucosa with inflammation or patches of heterotopic gastric mucosa. The histologic appearances of foregut cysts differ by type; bronchogenic cysts are lined with respiratory epithelium, gastroenteric cysts are lined by GI epithelium, and neurenteric cysts are lined with GI epithelium, in addition to neural elements.
    • Congenital stenoses may consist of rings of muscle or tracheobronchial elements.

More on Congenital Anomalies of the Esophagus

Overview: Congenital Anomalies of the Esophagus
Workup: Congenital Anomalies of the Esophagus
Treatment: Congenital Anomalies of the Esophagus
Follow-up: Congenital Anomalies of the Esophagus
Multimedia: Congenital Anomalies of the Esophagus
References
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Further Reading

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Keywords

congenital anomalies of the esophagus, esophageal atresia, EA, tracheoesophageal fistula, TEF, esophageal stenosis, esophageal cyst, tracheobronchial remnant, esophageal atresia and tracheoesophageal fistula, EA-TEF, esophageal web, esophageal muscular hypertrophy, esophageal duplications, esophageal rests, columnar epithelium–lined lower esophagus, Barrett esophagus, Barrett's esophagus, laryngotracheoesophageal cleft, LTEC, gastroesophageal reflux, GERD, oculodigitoesophageoduodenal, ODED, Feingold syndrome, trisomy 18, Down syndrome, pneumonia, atelectasis, polyhydramnios, pneumonitis, tetralogy of Fallot, imperforate anus

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Contributor Information and Disclosures

Author

Robert K Minkes, MD, PhD, Professor of Surgery, University of Texas Southwestern; Chief of Surgical Services, Children's Medical Center of Dallas-Legacy
Robert K Minkes, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Alison Snyder-Warwick, MD, Research Fellow, Department of Developmental Biology and Department of Surgery, Division of Plastic and Reconstructive Surgery, Washington University School of Medicine
Alison Snyder-Warwick, MD is a member of the following medical societies: Alpha Omega Alpha, Phi Beta Kappa, and Sigma Xi
Disclosure: Nothing to disclose.

Mark V Mazziotti, MD, Assistant Professor of Pediatric Surgery, Department of Surgery, Baylor College of Medicine, Texas Children's Hospital
Mark V Mazziotti, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Jacob C Langer, MD, Professor, Department of Surgery, University of Toronto Faculty of Medicine
Jacob C Langer, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Society for Surgery of the Alimentary Tract, and Society of University Surgeons
Disclosure: Nothing to disclose.

Medical Editor

Robert Kelly, MD, Chairman, Department of Surgery, Departments of Surgery and Pediatrics, Children's Hospital of the King's Daughters; Associate Professor, Eastern Virginia Medical School
Robert Kelly, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society of Abdominal Surgeons, Medical Society of Virginia, Norfolk Academy of Medicine, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Deborah F Billmire, MD, Associate Professor, Department of Surgery, Indiana University Medical Center
Deborah F Billmire, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Phi Beta Kappa, and Society of Critical Care Medicine
Disclosure: Nothing to disclose.

CME Editor

H Biemann Othersen Jr, MD, Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina
H Biemann Othersen Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for the Surgery of Trauma, American Burn Association, American Cancer Society, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society for Parenteral and Enteral Nutrition, American Surgical Association, American Thoracic Society, British Association of Paediatric Surgeons, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, South Carolina Medical Association, Southeastern Surgical Congress, Southern Medical Association, Southern Society for Pediatric Research, and Southern Thoracic Surgical Association
Disclosure: Nothing to disclose.

Chief Editor

Marleta Reynolds, MD, Professor of Surgery, Feinberg School of Medicine, Northwestern University; Interim Head, Division of Pediatric Surgery, Department of Surgery, Children's Memorial Hospital of Chicago
Marleta Reynolds, MD is a member of the following medical societies: American Pediatric Surgical Association
Disclosure: Nothing to disclose.

 
 
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