ABSTRACT
Esophageal atresia is typically diagnosed on prenatal ultrasound by the presence of a small or absent stomach bubble and polyhydramnios, but no ultrasound finding is absolutely predictive. Stringer et al.58 found in a recent series examining the accuracy of these two factors in diagnosing esophageal atresia, that there were many fetuses with these findings who were born normal (positive predictive value 56%), and many cases in which the diagnosis was missed by antenatal ultrasound (sensitivity 42%). Esophageal atresia is associated with anatomic and chromosomal abnormalities in 63% of cases,59 most notably trisomy 18 and vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal agenesis, and limb defects (VACTERL).
