Esophageal atresia

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Esophageal atresia
ICD-10 Q39.0, Q39.1
ICD-9 750.3
DiseasesDB 30035
MeSH D004933

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Muneeb, MBBS[2] Synonyms and keywords: Esophageal Atresias; Atresia, Esophageal; Atresias, Esophageal


Esophageal atresia is the commonest congenital esophageal anomaly. In esophageal atresia there is a discontinuity between upper and lower esophagus. It is associated with multiple genetic and chromosomal abnormalities. Thus, it can present in multiple ways. Prenatal diagnosis is possible by using ultrasound or MRI, while x-ray is most commonly used for postnatal diagnosis of esophageal atresia. Definitive treatment involves surgical repair of the anomaly. In the absence of treatment prognosis is very poor.

Historical Perspective




Common causes of esophageal atresia include CHARGE syndrome, VACTERL, Fanconi anemia, AEG syndrome, Pallister hall syndrome, Feingold syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Trisomy X. [10] [11]

Differentiating esophageal atresia from other Diseases

Epidemiology and Demographics




Risk Factors

Natural History, Complications and Prognosis


Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings


There are no ECG findings associated with esophageal atresia.


An x-ray may be helpful in the diagnosis of esophageal atresia. Usually, it is impossible to pass oral catheter beyond 10 to 15cm in esophageal atresia. Anterioposterior chest x-ray can confirm it by showing twisted catheter in the upper esophagus. Plain x-ray may also show absence of gastric bubble. If the diagnosis is unconfirmed, contrast administration under fluoroscopic guidance can confirm the presence of esophageal atresia.[10]

Echocardiography or Ultrasound

Ultrasound may be helpful in the antenatal diagnosis of esophageal atresia. Findings on an ultrasound suggestive of esophageal atresia include polyhydramnios from 24th week of gestation onwards, small or absent stomach bubble (indicating absence of fluid in stomach) from 14th week of gestation onwards. These findings are not specific for esophageal atresia and may be present in other congenital abnormalities.[22] Dilated esophagus with blind end is sometimes seen on ultrasound as an echoic area in the midline of fetal neck(pouch sign) from 3rd trimester onwards. [23] Polyhydramnios and stomach bubble sign may be absent if distal tracheo-esophageal fistula is present with esophageal atresia as some amniotic fluid may pass through the fistula.[24] If esophageal atresia is accompanied by proximal tracheo-esophageal fistula then pouch sign may be difficult to observe owing to leakage of fluid through the fistula.[17] Echocardiography and renal ultrasound are recommended for all the patients with esophageal atresia, as it can be a manifestation of syndromes like CHARGE syndrome, VACTERL association. [10]

CT scan

Ct scan is not routinely used for diagnosis of esophageal atresia. When used, 3D Ct scan can provide detailed information regarding anatomic aspects of esophageal atresia. [25]


Fetal MRI may be helpful in the diagnosis of [[esophageal atresia], as it can confirm the findings detected on ultrasound. In addition to polyhydramnios, pouch sign, bubble sign, MRI can also detect distended fetal hypopharynx sign which occurs as a consequence of hypopharynx distension because of obstruction. [26][27]

Other Imaging Findings

There are no other imaging findings associated with esophageal atresia.

Other Diagnostic Studies

There are no other diagnostic studies associated with the esophageal atresia.


Medical Therapy




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  16. Wong-Gibbons DL, Romitti PA, Sun L, Moore CA, Reefhuis J, Bell EM, Olshan AF (November 2008). "Maternal periconceptional exposure to cigarette smoking and alcohol and esophageal atresia +/- tracheo-esophageal fistula". Birth Defects Research. Part a, Clinical and Molecular Teratology. 82 (11): 776–84. doi:10.1002/bdra.20529. PMC 6042846. PMID 18985694.
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