Newborn screening: Toward a uniform screening panel and system - Executive summary

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

Research output: Contribution to journalArticle

115 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)S296-S307
JournalPediatrics
Volume117
Issue number5
DOIs
StatePublished - May 1 2006

Keywords

  • Congenital
  • Genetics
  • Newborn
  • Panel
  • Public health
  • Screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., Cordero, J., Edwards, E. S., Howse, J. L., Mullaley, T., Van Dyck, P., Becker, W., Boyle, C., Cunningham, G. C., DeBaun, M. R., Downs, S. M., Goldman, E., Goodman, S. I., Guerra, F., Hannon, W. H., ... Fleisher, L. D. (2006). Newborn screening: Toward a uniform screening panel and system - Executive summary. Pediatrics, 117(5), S296-S307. https://doi.org/10.1542/peds.2005-2633I