Esophageal atresia in the Northern Region Congenital Anomaly Survey, 1985-1997: Prenatal diagnosis and outcome

OBJECTIVE: This study was undertaken to determine the rate of prenatal diag nosis and surgical outcome of all cases of esophageal atresia reported to t he Northern Region Congenital Anomaly Survey. STUDY DESIGN: A retrospective review was conducted on maternal and infant c ase notes of all cases of esophageal atresia in the Northern Region from 19 85-1997, inclusive. RESULTS: A total of 176 cases of esophageal atresia was reported, and 158 d iagnoses were confirmed after birth. Six cases were excluded because of inc omplete data. Among the 32 patients in whom esophageal atresia was suspecte d antenatally because of an absent stomach bubble and hydramnios, 14 (44%) had esophageal atresia confirmed postnatally. In 10 of the 18 patients with false-positive diagnoses the stomach was subsequently seen. Esophageal atr esia should have been suspected prenatally in a further 38 patients with po lyhydramnios, 3 of whom also had an absent stomach bubble. There were 12 pr egnancy terminations, 1 spontaneous abortion, and 19 perinatal deaths (incl uding 9 stillbirths). Among the patients with esophageal atresia, 63.2% had associated anomalies (including 5.3% with aneuploidy), and 78.4% of these anomalies were missed prenatally. Among the live births 21.5% of the infant s had a birth weight below the 5th percentile. One hundred eight (90%) had esophageal atresia with a distal tracheoesophageal fistula, and overall 102 (85%) underwent a primary repair. Among the 120 infants who underwent surg ical treatment 11 subsequently died, and 6 of these deaths were related to postoperative complications. Thirty-nine infants (32.5%) had postoperative gastroesophageal reflux, necessitating fundoplication in 21 cases. At 2-yea r follow-up 23 of 89 infants had dysphagia, for which 7 still required a ga strostomy or jejunostomy Infants in whom the condition was diagnosed prenat ally were more likely to need prolonged mechanical ventilation, to have a l onger hospital stay, and to have long-term gastrointestinal problems. CONCLUSIONS: Most cases of esophageal atresia are not suspected prenatally. Among fetuses with ultrasonographic features suggestive of esophageal atre sia, 50% have the disorder confirmed postnatally. Overall perinatal and inf ant mortality rate among those with esophageal atresia is high (21.6%), and a further 21% of affected infants have significant morbidity after the age of 2 years.