Impact on the trachea in children with prenatally diagnosed vascular ring formed by a right aortic arch.

Objective: There has been a rise in the prenatal detection of right sided aortic arch (RAA). When associated with a left-sided arterial duct (LD), this forms a vascular ring encircling the trachea. Infants may have symptoms or signs suggestive of tracheoesophageal compression but many are asymptomatic.

Genetic testing in children with surfactant dysfunction.

Objectives: To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems.

Materials And Methods: Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information.