Common Maternal Genetic Syndromes VI: 22q11.2 Deletion Syndrome

Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome with an incidence of 1/3,000-1/4,000 live births. Common manifestations of 22q11.2DS include congenital heart defects, hypocalcemia, immune deficiency, cleft palate, cognitive deficits, and psychiatric disturbances. As childhood management of 22q11.2DS has improved, these individuals are living into adulthood and may have children of their own. Thus, it is imperative for the clinician to have an understanding of both the physical and psychiatric complications that may be seen in the adult with 22q11.2DS and how this may affect a pregnancy. Here we review the common features of 22q11.2DS in the adult and pregnancy management recommendations for the obstetrician. This review contains 4 figures, 1 tables, and 27 references. Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome Adult; 22q11.2 Deletion Syndrome pregnancy; DiGeorge Syndrome pregnancy; DiGeorge Syndrome adult.