title: Newborn screening and genetic testing.
abstract: Mandated newborn screening programs for genetic and other congenital conditions for the some 4 million infants born in the United States each year have seen dramatic changes over the past decade. With the mapping of the human genome and other advances in science and technology, there will be continued challenges to and changes in these programs. Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices.
authors.affiliation: Genetic Services Branch, Division of Services for Children With Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration, US Department of Health and Human Services, Rockville, MD 20857, USA. Mpuryear@hrsa.gov
authors.forename: Michele A
authors.initials: MA
authors.lastname: Lloyd-Puryear
authors.forename: Irene
authors.initials: I
authors.lastname: Forsman
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D000755:Anemia, Sickle Cell / Q000175:diagnosis; D002675:Child, Preschool; D003266:Continuity of Patient Care / Q000458:organization & administration; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005820:Genetic Testing / Q000379:methods / Q000458:organization & administration* / Q000639:trends; D006311:Hearing Disorders / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D015997:Neonatal Screening / Q000379:methods / Q000458:organization & administration* / Q000639:trends; D010353:Patient Education as Topic / Q000458:organization & administration; D010661:Phenylketonurias / Q000175:diagnosis; D011368:Professional-Family Relations
chemical_list: D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase