Purpose: Congenital esophageal atresia can be screened by ultrasound findings such as presence of polyhydramnios and absence of or small stomach bubble. However, the prenatal diagnosis rate is low (44%) due to difficulty in distinguishing this condition from other diseases manifesting similar findings. Here, we examined the relationship between depiction rate of pouch signs (PS), esophageal atresia type, and comorbid defects.

Subjects and Methods: Overall, 28 cases were diagnosed with esophageal atresia after birth at the Kanagawa Children’s Medical Center between January 2011 and April 2015. We performed a detailed ultrasound examination during the fetal period in 17 of these cases, which were highly suspected of having this disease, and divided them into two groups: PS-positive and PS-negative. For each group, we retrospectively examined the Gross category, presence or absence of stomach bubble, chromosomal and comorbid abnormalities, number of amniocentesis procedures required to relieve the mother’s pain, and maximum amniotic fluid index during pregnancy.

Results and Discussion: The Gross category of 13/17 subjects was type C (76%), whereas four were type A (24%). Nine cases (53%) were PS-positive. The earliest diagnosis of PS was at 30 weeks. We compared the PS-positive rate based on Gross category. The PS-positive rates were 54% (7/13) and 50% (2/4), respectively, for types C and A. Because the difference between Gross categories was not significant, we believed that it was difficult to predict Gross category using PS findings alone. The PS-positive rate in trisomy 18 cases was low (33%), which suggested a relationship between deglutition of the fetus and diagnosis of PS. As for complications, PS were present in all cases with VATER Association. There was no difference in PS-positive rate in the depiction of congenital heart disease or presence of stomach bubbles.

Conclusion: PS were present in approximately half of the prenatally diagnosed cases of esophageal atresia. In cases with suspected esophageal atresia, the prenatal diagnosis rate may increase by considering the presence of a pouch and by observing and depicting the fetus’s neck over time.