Approach
The diagnosis is based on clinical suspicion. In general, newborns present with feeding difficulties or respiratory distress. Inability to pass a nasogastric tube is often the first clue of an esophageal atresia (EA). As prenatal ultrasound has become more common and sensitive, increased numbers of these lesions are being detected in utero.
Prenatal diagnosis
A small or absent stomach bubble and polyhydramnios has a sensitivity of 56% in predicting EA. If polyhydramnios is confirmed, fetal MRI is also recommended to assist in confirming the diagnosis and determining other congenital anomalies. Prenatal diagnosis of EA ranges from approximately 16% to 37%.[2][15][16] There is a high detection rate for EA type A; in one population-based study, 82.2% of these patients were diagnosed prenatally, compared with 17.9% of EA type C.[15]
Clinical evaluation
Infants who are born without a prenatal diagnosis may be born completely asymptomatic or with varying degrees of respiratory distress, such as labored breathing, coughing, choking, and cyanosis. The first clue that an EA exists may be an inability to tolerate feedings.[17] The infant often produces excess saliva and requires frequent suctioning. The most insidious type is E (H-type), which can be very difficult to diagnose and may be missed on repeated exams.[6][18][19] Patients with this rarer form may go undetected until later in life when they present with recurrent episodes of aspiration pneumonia, feeding difficulties, or chronic cough.
EA/tracheoesophageal fistula (TEF) may form part of the more extensive VACTERL association, where the infant has 3 or more of the following anomalies: vertebral defects, anorectal anomalies, cardiac defects, tracheoesophageal abnormalities, radial and renal abnormalities, and limb anomalies.[20]
Investigations at birth
All infants born to a mother with polyhydramnios should have a nasogastric tube passed at birth. An x-ray of the chest and abdomen should always be obtained immediately after birth in patients who are suspected to have an EA/TEF on prenatal ultrasound. An x-ray is also warranted if there is evidence of respiratory distress or poor handling of secretions, or an inability to pass a nasogastric tube. The x-ray should be completed with a stiff, wide-bore nasogastric tube in place. The x-ray will show the tube coiled in the upper esophageal pouch with or without gas in the stomach and bowel. If a Replogle tube is used, it can be helpful to inject 2 to 3 mL of air into the tube to distend the possible upper pouch immediately prior to capturing the radiograph. While some H-type fistulas may be identified with a barium swallow study, this study is often unnecessary. These patients commonly present with more nonspecific symptoms such as coughing or choking while feeding. Careful endoscopic evaluation may be a better route to evaluate for both H-type and missed proximal fistulas.
Some surgeons perform a bronchoscopy at the time of surgical repair to look for other fistulas and other associated anomalies. The practice of routine bronchoscopy for this purpose is widely debated and varies by area.[21]
Assessment of structural cardiac and great vessel anomalies with transthoracic echocardiogram allows for preoperative risk assessment as well as surgical approach.[17]
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