VP11.21: Prenatal diagnosis of esophageal atresia by early visualisation of pouch sign at week 23

Abstract

40-year-old primigesta after IVF of a 26-year-old donor. First-trimester ultrasound (US) was normal and aneuploidy screening showed low risk. Morphological US at week 20 revealed left pelvis dilatation of 5.6mm, single umbilical artery and absent stomach bubble within a two-hour interval period. Karyotypr and microarray were normal, 46 XY. On the next day, normal size stomach bubble was observed. Follow-up scans were scheduled but the patient underwent an ultrasound and MRI at another facility at week 22 were stomach was again absent. US at our centre at week 23 demonstrated pouch sign so final diagnosis of esophageal atresia with tracheoesophageal fistula (EA with TEF) was made. Mild polyhydramnios was first noticed at week 28 and worsened at week 32 with an ILA of 42cm. Caesarean section at week 37 was performed due to breech presentation. A 2355g-male was born APGAR 8/10. Postnatal thoracoscopy showed closed distal fistula and esophageal atresia. Four surgical procedures were conducted to repair the defect. At the time, the infant is 15 months old, needs gastrostomy but can eat solids. EA with TEF is one of the most missed congenital anomalies. Mid-trimester US raises suspicion in about 20% of the cases but diagnoses only 4%. Detection rate of pouch sign is very low around week 20 and polyhydramnios usually does not develop until week 24-25. If any of these abnormalities is seen during morphological scan, EA with/without FTE must be ruled out. Concern must rise if we notice absent (or a small) stomach before/after visualising a normal-size stomach in more than one examination. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.