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 diagnosis and surgical outcome of all cases of esophageal atresia reported to the Northern Region Congenital Anomaly Survey.

STUDY DESIGN: A retrospective review was conducted on maternal and infant case notes of all cases of esophageal atresia in the Northern Region from 1985-1997, inclusive.

RESULTS: A total of 176 cases of esophageal atresia was reported, and 158 diagnoses were confirmed after birth. Six cases were excluded because of incomplete data. Among the 32 patients in whom esophageal atresia was suspected 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 atresia should have been suspected prenatally in a further 38 patients with polyhydramnios, 3 of whom also had an absent stomach bubble. There were 12 pregnancy terminations, 1 spontaneous abortion, and 19 perinatal deaths (including 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 infants 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 surgical 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-year follow-up 23 of 89 infants had dysphagia, for which 7 still required a gastrostomy or jejunostomy. Infants in whom the condition was diagnosed prenatally were more likely to need prolonged mechanical ventilation, to have a longer 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 atresia, 50% have the disorder confirmed postnatally. Overall perinatal and infant 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.