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Division of Laboratory Sciences

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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This page last reviewed September 01, 2004

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