The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia

Background/Purpose: Although advances have been made in the prenatal diagnosis of esophageal atresia (EA), most neonates are not identified until after birth. The distended hypopharynx (DHP) has been suggested as a novel prenatal sign for EA. We assess its diagnostic accuracy and predictive value on ultrasound (US) and magnetic resonance imaging (MRI), both alone and in combination with the esophageal pouch (EP) and secondary signs of EA (polyhydramnios and a small or absent fetal stomach). Methods: We retrospectively reviewed fetal US and MRI reports and medical records of 88 pregnant women evaluated for possible EA from 2000 to 2016. Seventy-five had postnatal follow-up that confirmed or disproved the diagnosis of EA and were included in our analysis. Results: Seventy-five women had 107 study visits (range 1–4). DHP and/or EP were seen on US and/or MRI in 36% of patients, and 78% of those patients had EA. DHP was 24% more sensitive for EA than EP, while EP was 30% more specific. After 28 weeks of gestation, DHP had a predictive accuracy for EA of 0.929 (P = 0.001). Conclusions: DHP is a sensitive additional prenatal sign of EA. More accurate diagnosis of EA allows for improved counseling regarding delivery, postnatal evaluation, and surgical correction. Type of Study: Diagnostic. Level of Evidence: Level II.