Newborn screening in North Carolina: the evolution of policy and practice.
Newborn screening policies in North Carolina are due to the efforts of skilled and knowledgeable state officials, clinicians, and scientists who are able to develop effective newborn screening procedures. A newborn screening that was developed in North Carolina is the first automated method for diagnosing phenylketonuria. This process was later adopted in many other states. The use of tandem mass spectrometry in newborn screening was also pioneered in North Carolina, and it is being used in an increasing number of states. Newborn screening is more than testing, however; follow-up and specialized care are essential. State-level policies should recognize the multiple links necessary to make newborn screening effective and efficient.
Kirkman
H Neil
HN
Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina, Chapel Hill, NC 27599-7487, USA. hnk202@cochill.net
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D003409:Congenital Hypothyroidism / Q000175:diagnosis; D005500:Follow-Up Studies; D006291:Health Policy; D006453:Hemoglobinopathies / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000331:legislation & jurisprudence / Q000639:trends*; D009657:North Carolina; D010346:Patient Care Management; D053719:Tandem Mass Spectrometry