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

Author:

Sweetman Lawrence1,Millington David S.2,Therrell Bradford L.3,Hannon W. Harry4,Popovich Bradley5,Watson Michael S.6,Mann Marie Y.7,Lloyd-Puryear Michele A.7,van Dyck Peter C.7

Affiliation:

1. Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas

2. Biochemical Genetics Laboratory, Duke University, Research Triangle Park, North Carolina

3. National Newborn Screening and Genetics Resource Center, Austin, Texas

4. Newborn Screening Branch, Centers for Disease Control and Prevention, Atlanta, Georgia

5. Sirius Genomics Inc, Vancouver, British Columbia, Canada

6. American College of Medical Genetics, Washington, DC

7. Maternal and Child Health Bureau, Health Resources and Services Administration, Washington, DC

Abstract

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.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Maternal and Child Health Bureau. Newborn Screening: Toward a Uniform Screening Panel and System. Available at: http://mchb.hrsa.gov/screening. Accessed September 14, 2005

2. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49:1797–1817

3. Centers for Disease Control and Prevention. Using tandem mass spectrometry for metabolic disease screening among newborns: a report of a work group. MMWR Recomm Rep. 2001;50(RR-3):1–34

4. Newborns to be screened for 35 disorders [transcript]. NBC2 News. Fort Myers, FL: NBC2; January 31, 2005

5. Melcer R. Babies will be tested for 25 disorders. St Louis Post-Dispatch. January 2, 2005

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