Newborn
Screening: Preventing Mental Retardation and Other Serious Health
Conditions Among Children
Health Problem
More than 4 million babies born each year are tested for diseases such as
phenylketonuria (PKU), hypothyroidism, and sickle cell disease through newborn screening programs.
Accurate screening ensures that affected babies are identified quickly, that cases are not missed, and that the number of "false positive" results
is minimized in order to decrease parental anxiety.
Early intervention prevents mental retardation, severe illness, and premature death among affected infants.
Test results must be accurate since the negative health outcomes are irreversible for those
infants in whom diseases are missed.
Laboratory Role
CDC’s Newborn Screening Quality Assurance Program
(NSQAP) with its cosponsor, the Association of Public Health Laboratories
(APHL), ensures that newborn screening services are of the highest quality.
NSQAP immediately notifies participating laboratories about misclassified specimens so that corrective
action can be taken.
NSQAP has been the only comprehensive source of these essential quality assurance services for more than
26 years and is recognized worldwide as the center of expertise in dried blood spot technologies.
Services are provided for more than 30 disorders.
Health Impact
Each year severe
disorders are detected in approximately 3,000 babies.
Thousands of children are living healthy and productive lives as a
result of newborn screening and CDC’s quality assurance program.
Future Opportunities
New technologies and
gene discoveries are leading to rapid expansions
in newborn screening. As states include new tests in their newborn
screening programs, CDC will need to expand its quality assurance efforts
to ensure the accuracy of these tests.
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