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Published online May 1, 2006
PEDIATRICS Vol. 117 No. 5 May 2006, pp. S308-S314 (doi:10.1542/peds.2005-2633J)
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SUPPLEMENT ARTICLE

Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels

Lawrence Sweetman, PhDa, David S. Millington, PhDb, Bradford L. Therrell, PhDc, W. Harry Hannon, PhDd, Bradley Popovich, PhDe, Michael S. Watson, PhDf, Marie Y. Mann, MD, MPHg, Michele A. Lloyd-Puryear, MD, PhDg, Peter C. van Dyck, MD, MPHg

a Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas
b Biochemical Genetics Laboratory, Duke University, Research Triangle Park, North Carolina
c National Newborn Screening and Genetics Resource Center, Austin, Texas
d Newborn Screening Branch, Centers for Disease Control and Prevention, Atlanta, Georgia
e Sirius Genomics Inc, Vancouver, British Columbia, Canada
f American College of Medical Genetics, Washington, DC
g Maternal and Child Health Bureau, Health Resources and Services Administration, Washington, DC

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.

Key Words: newborn screening • disorders • nomenclature

Abbreviations: ACMG—American College of Medical Genetics • MS/MS—tandem mass spectrometry

Accepted Dec 27, 2005.


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Related articles in Pediatrics:

Sweetman L, Millington DS, Therrell BL, et al. Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels. PEDIATRICS 2006;117:S308–S314.

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