OC14.07: The impact of prenatal diagnosis of esophageal atresia

Abstract

Prenatal diagnosis of esophageal atresia is believed to improve the outcome; however, the detection rate is only 10–40% and the diagnosis is usually not made before the 3rd trimester. In this study, the impact of prenatal diagnosis was investigated. Fetuses examined by ultrasound at the NCFM and with the diagnosis of esophageal atresia from 1987–2004 were evaluated. Of 48 cases with esophageal atresia, 21/48 (44%) were diagnosed prenatally at median 32 + 0 weeks (range 17–36). Four were detected at the routine fetal examination. A small or empty stomach and/or an esophageal pouch were noted in all diagnosed cases and in 15 of them, associated anomalies were diagnosed. In total, 37/48 (77%) had associated anomalies. In 22/48 (46%) cases, the esophageal atresia was undetected, but associated anomalies were diagnosed prenatally at median 19 + 4 weeks (range 14–35). Five/48 (10%) cases had no prenatal diagnosis at all; all these had isolated esophageal atresia and survived. The karyotype was abnormal in 11 cases (23%). Ten (21%) pregnancies with lethal conditions were terminated. Two fetuses died in utero; one of them had isolated esophageal atresia. Four cases with trisomy 18 died during or close after birth. Except these four, thirty-two fetuses were alive until delivery. Five infants with serious associated anomalies died postnatally. Isolated esophageal atresia was found in 11 (23%) cases; 10 of them survived. In total, 27 infants survived and 16 of the 21 cases with a prenatal diagnosis of esophageal atresia survived. Esophageal atresia was diagnosed prenatally in 44%. Associated anomalies were present in 77%. The prenatal diagnosis of associated anomalies was important to select lethal conditions. The prenatal diagnosis of esophageal atresia with or without associated anomalies made it possible to optimize the surveillance and delivery. A routine 3rd trimester examination may improve the detection rate and outcome.