Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Marci K Sontag; Deboshree Sarkar; Anne M Comeau; Kathryn Hassell; Lorenzo D Botto; Richard Parad; Susan R Rose; Kupper A Wintergerst; Kim Smith-Whitley; Sikha Singh; Careema Yusuf; Jelili Ojodu; Sara Copeland; Cynthia F Hinton

doi:10.3390/ijns4020016

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Int J Neonatal Screen. 2018;4(2):16. doi: 10.3390/ijns4020016. Epub 2018 May 9.

Authors

Marci K Sontag^{1

2}, Deboshree Sarkar³, Anne M Comeau⁴, Kathryn Hassell⁵, Lorenzo D Botto⁶, Richard Parad⁷, Susan R Rose⁸, Kupper A Wintergerst⁹, Kim Smith-Whitley¹⁰, Sikha Singh^{2

11}, Careema Yusuf^{2

11}, Jelili Ojodu^{2

11}, Sara Copeland¹², Cynthia F Hinton¹³

Affiliations

¹ Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
² NewSTEPs, Newborn Screening Technical assistance and Evaluation Program, A Program of the Association of Public Health Laboratories, Silver Spring, MD 20910, USA.
³ 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.
⁴ New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
⁵ Division of Hematology, University of Colorado School of Medicine, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.
⁶ Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
⁷ Department of Pediatrics, Harvard Medical School Department of Pediatric and Newborn Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
⁸ Endocrinology and Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
⁹ Division of Endocrinology, Department of Pediatrics, School of Medicine, University of Louisville, Louisville, KY 40202, USA.
¹⁰ Division of Hematology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA 19104, USA.
¹¹ Association of Public Health Laboratories, Silver Spring, MD 20910, USA.
¹² Palo Alto Medical Foundation, Daly City, CA 94015, USA.
¹³ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.

Abstract

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.

Keywords: case definitions; newborn screening; public health surveillance; short-term follow up.

Grants and funding

CC999999/Intramural CDC HHS/United States