A 3-hour-old girl is being evaluated in the newborn nursery for excessive coughing. The patient was being bottle-fed by her mother and within a few minutes began coughing forcefully. The mother allowed the infant to rest, but she continued to cough. The patient was born via spontaneous vaginal delivery to a 30-year-old primigravida who had no prenatal care. Ballard score estimates the infant to be around 38 weeks gestation. Vital signs are normal. The patient is awake, and the coughing has subsided. The oropharynx is clear with an intact palate. Lung examination reveals coarse breath sounds, particularly on the right side. Abdominal examination shows no organomegaly. When a nasogastric tube is inserted, it encounters resistance at 10 cm. Chest radiograph shows that the end of the tube is at the upper esophagus. Which of the following additional evaluations is currently indicated in this patient?
Tracheoesophageal fistula with esophageal atresia | |
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VACTERL = Vertebral, Anal, Cardiac, TracheoEsophageal, Renal, Limb defects. | |
A nasogastric tube cannot pass this patient's upper esophagus due to a tracheoesophageal fistula (TEF) with esophageal atresia (EA), a congenital malformation caused by abnormal foregut septation during early fetal development. TEF with EA is most commonly characterized by a proximal esophageal pouch with distal fistula between the esophagus and the trachea.
TEF with EA typically presents shortly after birth with coughing or choking during feeding. Patients can also have respiratory distress and coarse breath sounds (particularly on the right side) due to aspiration of regurgitated feeds from the atretic pouch. Diagnosis is confirmed by resistance of nasogastric tube advancement beyond 10-15 cm.
Up to 50% of patients who have TEF with EA have other congenital abnormalities, such as those included in the VACTERL association (Vertebral, Anal, Cardiac, TracheoEsophageal fistula, Renal, and/or Limb anomalies). TEF with EA is also less commonly associated with CHARGE syndrome (Coloboma, Heart defects, Atresia choanae, Retardation of growth, Genitourinary anomalies, and Ear abnormalities).
For this reason, evaluation of all patients who have TEF with EA should include screening echocardiography and renal ultrasonography. Contrast enema (to detect anal atresia) and limb radiographs may also be performed if clinical suspicion for VACTERL association is high.
(Choice A) Dilated funduscopic examination is indicated for an abnormal red reflex (eg, leukocoria) to detect retinoblastoma, which does not occur in association with TEF with EA.
(Choice B) Hepatic ultrasonography is performed to screen for hepatoblastoma in patients with Beckwith-Wiedemann syndrome (eg, hemihyperplasia, macroglossia), features of which are not seen in this patient. In addition, liver abnormalities are not part of the VACTERL association.
(Choice C) Gastroesophageal reflux can cause spitting up with feeds, and additional evaluation is not typically warranted. However, coughing during feeds and resistance to nasogastric tube advancement are not consistent with reflux. Further workup is required in this patient due to the association of TEF with VACTERL.
(Choice E) Features of congenital hypothyroidism include hypotonia, umbilical hernia, feeding problems, and macroglossia, none of which is seen here. TEF is not associated with thyroid dysfunction, making thyroid function testing unnecessary.
Educational objective:
Tracheoesophageal fistula (TEF) with esophageal atresia (EA) presents shortly after birth with choking or coughing during feeding. Diagnosis is confirmed by resistance of nasogastric tube advancement beyond the proximal esophagus. Because TEF with EA often occurs with VACTERL association (Vertebral, Anal, Cardiac, TracheoEsophageal fistula, Renal, and/or Limb anomalies), all patients who have TEF with EA should undergo screening echocardiography and renal ultrasonography.