title: The effects of Down syndrome and other chromosomal abnormalities on survival and management in oesophageal atresia.
abstract: Recognisable chromosomal abnormalities occur in over 5% of patients with oesophageal atresia (OA). In a review of 670 patients with OA chromosomal abnormalities were identified in 35 (5.2%), of whom 16 had trisomy 18 and 12 had trisomy 21. In patients with trisomy 18, the diagnosis should be suspected on clinical grounds and confirmed on analysis of chromosomes; no active treatment of the OA is justified because of the extremely poor prognosis. In Down syndrome (DS) 50% will have pure OA with no tracheo-oesophageal fistula. In addition, many of these infants will have associated anomalies typical of those normally seen in DS, eg., Hirschsprung's disease, duodenal atresia, and congenital heart disease. Despite treatment, OA with DS has a high mortality.
authors.affiliation: Department of Paediatric Surgery, Christchurch Hospital, Private Bag 4710, Christchurch, New Zealand.
authors.forename: S W
authors.initials: SW
authors.lastname: Beasley
authors.forename: M
authors.initials: M
authors.lastname: Allen
authors.forename: N
authors.initials: N
authors.lastname: Myers
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000401:mortality / Q000628:therapy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000150:complications / Q000401:mortality* / Q000628:therapy; D004933:Esophageal Atresia / Q000150:complications / Q000401:mortality* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D011446:Prospective Studies; D012189:Retrospective Studies; D015996:Survival Rate; D016896:Treatment Outcome; D014314:Trisomy