Screening

Genetic counseling is important given the high risk in the children of affected parents.[15][52]

Because of the sporadic nature of the disease, most healthy parents are not at risk for additional children with the disorder, but because the presentation may be mild, a careful assessment of apparently healthy parents is warranted before determining the recurrence risk. Complex congenital heart disease may be more likely in relatives of individuals with DiGeorge syndrome (22q11.2 deletion syndrome, or 22q11.2DS), regardless of whether they also have a deletion.[34]

The asymptomatic population is generally not screened for DiGeorge syndrome. However, there is an impetus for lymphopenia screening to detect severe combined immunodeficiency as part of the normal newborn screening panel, and this has the potential to detect some patients with 22q11.2 deletion syndrome as well.[82][83][84]​ This may be useful given at least 1 in 4 newborns with 22q11.2 deletion are missed clinically.[85]​ The benefits of newborn screening for 22q11.2 deletion; however, is unclear, given the lack of research in this space; such screening would also not be able to detect DiGeorge syndrome resulting from causes other than 22q11.2 deletion.[86][87]​​​​​​​​​​

Testing only those with conotruncal abnormalities has only 70% sensitivity for identifying 22q11.2 deletion. Consideration should be given to screening any patient with an aortic arch abnormality.[88] New strategies are needed for identifying those with other congenital heart diseases that would benefit from testing.[89]

There is probably little advantage to screening patients with schizophrenia who do not have other features of DiGeorge syndrome.[90]

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