Naming and counting disorders (conditions) included in newborn screening panels

Lawrence Sweetman, David S. Millington, Bradford L. Therrell, W. Harry Hannon, Bradley Popovich, Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear, Peter C. Van Dyck

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


The rapid introduction of new technologies for newborn screening is affecting decisions about the disorders (conditions) that are required or offered as an option through public and private newborn screening. An American College of Medical Genetics report to the Health Resources and Services Administration summarized an extensive effort by a group of experts, with diverse expertise within the newborn screening system, to determine a process for selecting a uniform panel of newborn screening disorders. The expert panel did not propose a mechanism for counting or naming conditions. Differences in the nomenclature used to identify disorders have resulted in difficulties in developing a consensus listing and counting scheme for the disorders in the recommended uniform panel. We suggest a system of nomenclature that correlates the screening panel of disorders recommended in the American College of Medical Genetics report with the screening analyte and accepted standardized nomenclature. This nomenclature system is proposed to remove ambiguity and to increase national uniformity in naming and counting screening disorders.

Original languageEnglish (US)
Pages (from-to)S308-S314
Issue number5
StatePublished - May 2006
Externally publishedYes


  • Disorders
  • Newborn screening
  • Nomenclature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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