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Int. J. Neonatal Screen. 2018, 4(2), 16;

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
NewSTEPs, Newborn Screening Technical assistance and Evaluation Program, A Program of the Association of Public Health Laboratories, Silver Spring, MD 20910, USA
Health Resources and Services Administration, Maternal Child Health Bureau, Division of Services for Children with Special Health Needs, Genetic Services Branch, Rockville, MD 20852, USA
New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA
Division of Hematology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Department of Pediatrics, Harvard Medical School Department of Pediatric and Newborn Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA
Endocrinology and Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
Division of Endocrinology, Department of Pediatrics, School of Medicine, University of Louisville, Louisville, KY 40202, USA
Division of Hematology, Children’s Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA 19104, USA
Association of Public Health Laboratories, Silver Spring, MD 20910, USA
Palo Alto Medical Foundation, Daly City, CA 94015, USA
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
On behalf of the expert advisor working group.
Author to whom correspondence should be addressed.
Received: 22 March 2018 / Revised: 1 May 2018 / Accepted: 1 May 2018 / Published: 9 May 2018
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Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels. View Full-Text
Keywords: newborn screening; case definitions; short-term follow up; public health surveillance newborn screening; case definitions; short-term follow up; public health surveillance
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Sontag, M.K.; Sarkar, D.; Comeau, A.M.; Hassell, K.; Botto, L.D.; Parad, R.; Rose, S.R.; Wintergerst, K.A.; Smith-Whitley, K.; Singh, S.; Yusuf, C.; Ojodu, J.; Copeland, S.; Hinton, C.F. Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance. Int. J. Neonatal Screen. 2018, 4, 16.

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