Accuracy of prenatal detection of tracheoesophageal fistula and oesophageal atresia

AimsThis study aims to determine the rate of prenatal detection of tracheoesophageal fistula and oesophageal atresia (TOF/OA), by identifying a small or absent stomach bubble with or without polyhydramnios, on the prenatal ultrasound scans (USS).MethodsA retrospective study of prenatal ultrasound findings of babies with a prenatal and postnatal diagnosis of TOF/OA born between 1st January 2004 and 31st December 2013 was undertaken.ResultsA total of 58 babies were born with TOF/OA. 40% of mothers had their prenatal investigations performed within our tertiary centre, and the remaining 60% had their antenatal care at their local district general hospital (DGH). The overall sensitivity for prenatal USS was 26%, with a specificity of 99% and a positive predictive value (PPV) of 35%. However, the sensitivity of the prenatal USS within the tertiary centre was significantly higher at 57%, while only 2 cases were detected prenatally in the DGHs. Polyhydramnios was seen in 67% of mothers that had a prenatal diagnosis of TOF/OA and its presence did significantly increase the positive predictive value of prenatal USS (from 35% to 63%). Of those that were postnatally diagnosed, 21% had prenatal polyhydramnios. There was no significant difference in postnatal outcomes between those that were prenatally diagnosed and those that were postnatally diagnosed.ConclusionPrenatal diagnosis of TOF/OA remains challenging. However within a specialist centre the accuracy of successful prenatal detection can be significantly improved. This is beneficial both for prenatal counselling of families and for planning appropriate perinatal and postnatal care for the baby.