Faculty Collaboration Database

The call from the newborn screening laboratory: frustration in the afternoon. Pediatr Clin North Am 2004 Jun;51(3):803-18, xii

Date

05/26/2004

Pubmed ID

15157599

DOI

10.1016/j.pcl.2004.01.009

Scopus ID

2-s2.0-2442587371 (requires institutional sign-in at Scopus site)   9 Citations

Abstract

Newborn screening programs in the United States are evolving in concert with technologic advances in analytic chemistry and medicine. Many more disorders are being identified on dried filter paper blood spots without fundamentally altering the basic principles first put forward in the 1960s. Some disorders have been added without researchers knowing if there is a true benefit to early diagnosis and treatment; some disorders currently being detected will merit little or no follow-up in the future. The general principles underlying newborn screening are discussed, as are the individual disorders screened in most programs. The expanding and evolving impact of tandem mass spectrometry on newborn screening is also explored.

Author List

Rhead WJ, Irons M

Author

William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Blood Chemical Analysis
Congenital Hypothyroidism
Humans
Hypothyroidism
Infant, Newborn
Mass Spectrometry
Metabolism, Inborn Errors
Neonatal Screening
Toxoplasmosis, Congenital
United States