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Newborn screening

Definition(s)

Testing done within days of birth to identify infants at increased risk for a specific genetic disorder so that treatment can begin as soon as possible; when a newborn screening result is positive, further diagnostic testing is usually required to confirm or specify the results and counseling is offered to educate the parents

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. Typically, testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, newborn screening is mandatory for several different genetic disorders, though the exact set of required tests differs from state to state.

Definition from: Talking Glossary of Genetic TermsThis link leads to a site outside Genetics Home Reference. from the National Human Genome Research Institute

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: September 15, 2014