Newborn screening is use to identify infants who might have particular conditions. Positive results require additional diagnostic evaluation to either rule out or confirm the presence of the condition.
Four million infants per year undergo NBS in the United States, and the vast majority have normal NBS results and require no additional testing. More than 12,000 screened infants are diagnosed each year with serious health conditions The five most commonly diagnosed conditions hypothyroidism, include hearing loss, congenital CF, sickle cell disease, and medium-chain acyl- CoA dehydrogenase deficiency (MCADD) (Cen ters for Disease Control and Prevention [CDC]. 2012). Procedures for notifying parents vary by state (CDC). Typically, the NBS laboratory personnel inform primary care providers of positive and negative NBS results, and these providers inform parents. Many NBS programs also have clinical consultants to assist primary care providers regarding repeat NBS tests and confirmatory diagnostic tests.