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Newborn screening: toward a uniform screening panel and system--executive summary

Authors :
Marie Y. Mann
Gurvaneet Randhawa
Beverly Dozier
Robert D. Steiner
R. Rodney Howell
Stephen M. Downs
W. Harry Hannon
Gary Hoffman
Sonia M. Suter
Bradford L. Therrell
Piero Rinaldo
Tricia Mullaley
Thomas F. Tonniges
Donald B. Bailey
Jennifer L. Howse
Lynn D. Fleisher
José F. Cordero
Fernando Guerra
Arnold W. Strauss
Kenneth A. Pass
James W. Hanson
Michael R. DeBaun
William Becker
Harvey L. Levy
Michael S. Watson
Edward B. Goldman
Scott D. McLean
Celia I. Kaye
Kelly R. Leight
Danielle Laraque
Barbara P. Yawn
Peter C. van Dyck
Mark A. Rothstein
Derek Robertson
George C. Cunningham
Anne M. Willey
Michele A. Lloyd-Puryear
Deborah Marsden
Cecilia Larson
Fred Lorey
Kathy Stagni
Jennifer M. Puck
James R. Eckman
Coleen A. Boyle
Franklin Desposito
E. Steven Edwards
Wanda Yazzie
Tracy L. Trotter
Stephen I. Goodman
Alex R. Kemper
Julie Miller
Source :
Pediatrics. 117(5 Pt 2)
Publication Year :
2006

Abstract

The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.

Details

ISSN :
10984275
Volume :
117
Issue :
5 Pt 2
Database :
OpenAIRE
Journal :
Pediatrics
Accession number :
edsair.doi.dedup.....99188265e1e6b12543cc3bcc76474bc2