Newborn screening programs: should 22q11 deletion syndrome be added?

[child syndrome]

The highly variable 22 q 11 deletion syndrome has been proposed for addition to newborn screening panels . A literature review investigated the incidence and prevalence , clinical features , and prognosis of 22 q 11 deletion syndrome and other issues related to newborn screening . Severe complications that could potentially be helped by screening include cardiac defects in 80 % (with 20 % having no outward signs to aid detection ), hypocalcemia that can lead to seizures in 20 % (though hypocalcemia is routinely investigated in sick newborns ), and severe immune deficiency in <1 % (which would be identified by some states ' severe combined immunodeficiency screens ). Other benefits that do not fit traditional goals of newborn screening include treatment for complications such as failure to thrive and developmental delay or preventing a "diagnostic odyssey ." Although universal screening may prove the incidence to be >1 :5000 , undetected life-threatening effects occur in a minority of 22 q 11 deletion syndrome patients . Concerns include an untested screening technique , difficulty obtaining results in time for cardiac intervention , the chance of "vulnerable child syndrome " in mild cases , and possibly detecting congenital heart disease more efficiently by other means . Because addition of tests for highly variable conditions such as 22 q 11 deletion syndrome is likely to set a precedent for other syndromes , reevaluation of newborn screening criteria should be considered .