Familial 22q11.2 Deletion: Pregnancy Options and Management

Abstract

DiGeorge syndrome (DGS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons. This report describes a familial 22q11.2 deletion diagnosed during pregnancy using an emerging technology, Bacterial artificial chromosome on Beads (BoBs). We discuss the implications of prenatally detected DGS and future options to prevent the recurrence.