Newborn screening for critical congenital heart disease: Essential public health roles for birth defects monitoring programs

Authors

  • Richard S. Olney,

    Corresponding author
    1. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), Atlanta, Georgia
    • Pediatric Genetics Team, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 1600 Clifton Road, Mailstop E-86, Atlanta, GA 30333
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  • Lorenzo D. Botto

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

Abstract

Newborn screening for critical congenital heart defects, added in September 2011 to the Recommended Uniform Screening Panel in the United States, is a new public health priority and has particular relevance for state birth defects surveillance programs. In this commentary, we review the background to potential involvement by birth defects programs with screening, and detail key questions that these programs can evaluate: (1) health outcomes after newborn screening among affected children; (2) missed primary targets of screening (i.e., affected children who were not screened or had false-negative screens); (3) burden and screening accuracy for secondary targets; (4) the role of altitude, sociodemographic characteristics, and other special circumstances; (5) the contribution of prenatal and clinical diagnoses before newborn screening; and (6) costs and service utilization. To address these issues, monitoring programs will need to pay particular attention to: (1) data sources and quality; (2) timeliness; (3) long-term follow-up for comprehensive outcomes; (4) reporting standards; and (5) state and national program coordination. Although some aspects of involvement with these screening programs will require new partnerships and paradigm shifts in birth defects program operations, the visibility of these screening programs among stakeholders will also provide birth defects programs with new opportunities to demonstrate their usefulness. Birth Defects Research (Part A), © 2012 Wiley Periodicals, Inc.

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