Additional congenital anomalies in babies with gut atresia or stenosis: when to investigate, and which investigation

A wide variety of additional congenital anomalies occur in babies born with a gut atresia or stenosis. The specific pattern of anomalies depends on the location of the atresia. The serious nature of many of them makes perioperative diagnosis imperative. Eighty-six babies born with pure oesophageal atresia (OA), duodenal atresia (DA) or stenosis, or jejuno-ileal atresia (JIA) have been studied. These, combined with over 2,000 cases in the literature, have been used to develop a protocol to optimally investigate babies with gut atresia for associated anomalies. The authors recommend routinely obtaining anterio-posterior and lateral chest and abdominal radiographs for babies with pure OA, DA and intestinal atresia, making sure the entire spine can be visualised. Cardiac and renal ultrasonography (US) should be routine in all babies with pure OA or DA. A micturating cystourethrogram should be done in those babies with abnormal urinary tract US or an associated anorectal anomaly. A sweat test should be obtained in babies with JIA, and a rectal biopsy should be taken in babies with the combination of Down's syndrome and DA to exclude Hirschsprung's disease.