Screening in the first year of life for congenital heart disease: review and cost-effectiveness analysis - secondary research

Knowles R, Griebsch I, Dezateux C, Brown J, Bull C, Wren C
Record ID 32001000816
Authors' objectives:

To provide evidence to inform policy decisions about the most appropriate newborn screening strategy for congenital heart defects, identifying priorities for future research that might
reduce important uncertainties in the evidence base for such decisions.

Authors' recommendations: Early detection through newborn screening potentially can improve the outcome of congenital heart defects; however the current programme performs poorly, and lacks monitoringof quality assurance, performance management and longer term outcomes. Pulse oximetry is a promising alternative newborn screening strategy but further evaluation is needed to obtain more precise estimates of test performance and to inform optimal timing, diagnostic and management strategies. Although screening echocardiography is associated with the highest detection rate, it is the most costly strategy and has a 5% false-positive rate. Improving antenatal detection of congenital heart defects increases the cost per timely postnatal diagnosis afforded by any newborn screening strategy but does not alter the relative effects of the strategies. An improvement of timely management of screen positiveinfants is essential. Further research is required to refine the detection rate and other aspects of pulse oximetry, to evaluate antenatal screening strategies more directly, and to investigate the psychosocial effects of newborn screening for congenital heart defects.
Project Status: Completed
URL for project:
Year Published: 2005
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: England, United Kingdom
MeSH Terms
  • Heart Defects, Congenital
  • Mass Screening
Organisation Name: NIHR Health Technology Assessment programme
Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK
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Copyright: 2009 Queen's Printer and Controller of HMSO
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