Early detection of DiGeorge and velocardiofacial Syndromes by screening neonates with congenital heart disease for 22q11 Deletion

Abstract

With the advent of genetic testing, children with congenital heart anomalies have been screened for 22q11 deletion (Velocardiofacial) syndrome on a frequent basis. However, in a four year retrospective case study done at Oregon Health Sciences University Hospital it was discovered that more children with feeding and hearing abnormalities had a much higher incidence of22qll deletion than did children with cyanotic cardiac disease and that routine screening should be indicated for this population of infants.