A 6-hour-old boy is in the newborn nursery with feeding difficulties. The patient was born at 39 weeks gestation to a 33-year-old primigravida via cesarean delivery due to failure to progress and late decelerations seen on fetal heart tracing. Apgar scores were 8 and 9, but examination shows an infant with excessive drooling and coughing. Cardiac, respiratory, and abdominal examinations are otherwise normal at rest. When the infant attempts to breastfeed, however, several bouts of coughing and perioral cyanosis develop with oxygen saturation of 85% on room air. Which of the following is the most likely cause of this patient's condition?
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This infant's presentation is concerning for tracheoesophageal fistula with esophageal atresia (TEF/EA). Normally, the trachea develops from a diverticulum that forms from the primitive foregut. The tracheobronchial diverticulum lengthens and separates to form the respiratory tract, while the foregut becomes the esophagus. Failure to separate most commonly leads to esophageal atresia with a remaining fistula between the trachea and esophagus.
Prenatal ultrasounds may demonstrate polyhydramnios due to the inability of the fetus to swallow amniotic fluid. After birth, infants typically present with significant drooling (due to inability to swallow saliva) and choking, coughing, and cyanosis with feeds (due to reflux of breastmilk/formula and aspiration into the trachea/lungs). The diagnosis of TEF/EA is confirmed by x-ray showing positioning of the nasogastric tube in the atretic esophageal pouch after an attempt to pass the tube into the stomach. X-ray will also show a stomach bubble, which results from air flow from the trachea through the fistula to the distal esophagus.
(Choice A) Atresia of the small intestine is a congenital defect that leads to complete obstruction of the gastrointestinal tract at the site of atresia. Neonates present with abdominal distension and bilious emesis.
(Choice B) Laryngomalacia presents with inspiratory stridor during infancy due to collapse of supraglottic structures during inspiration. Stridor is classically worse in the supine position and improves with upright positioning.
(Choice D) Choanal atresia is characterized by congenital obstruction of the posterior nasal passages. Infants with bilateral choanal atresia can present with upper airway obstruction and cyanosis with feeding, but not excessive drooling and coughing. Inability to pass a nasogastric tube through the nares is suggestive of the diagnosis.
(Choice E) Herniation of abdominal viscera into the thoracic cavity occurs in congenital diaphragmatic hernia. Infants typically exhibit respiratory distress shortly after birth due to pulmonary hypoplasia. The presence of abdominal viscera in the thorax results in a scaphoid abdomen and bowel sounds heard over the chest.
Educational objective:
Tracheoesophageal fistula with esophageal atresia results from failure of the primitive foregut to appropriately divide into separate trachea and esophageal structures. Infants present shortly after birth with excessive secretions and choking/cyanosis during feeds.