22q11.2 deletion syndrome screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

Screening of DGS depends on known family history and then approaching with genetic studies in individual cases.

Indications of screening depends on the clinical presentation. The 22q11.2 deletion occurs in 20-30% of newborns with isolated conotruncal cardiac malformations. Therefore, screening all newborns with conotruncal anomalies for 22q11.2 deletions is well justified. Some other candidates for screening are neonatal hypocalcemia (74%), interrupted aortic arch (50-60%), and velopharyngeal insufficiency (64%). Only about 1% of cases with any cardiac lesion detected later in life and 0-6% of cases of isolated schizophrenia (0-6%) may have 22q11.2DS, thus these facts may warrant an evaluation by a clinical geneticist for advice regarding screening for 22q11.2DS.^[1]

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