Health Technology Assessment 2005; Vol 9: number 44
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R Knowles,1 I Griebsch,2 C Dezateux,1* J Brown,2 C Bull3 and C Wren4
1 Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health, London, UK
2 MRC Health Services Research Collaboration, Department of Social Medicine, University of Bristol, UK
3 Great Ormond Street Hospital for Children NHS Trust, London, UK
4 Freeman Hospital, Newcastle upon Tyne, UK
* Corresponding author
The objectives of this study were to provide evidence to inform policy decisions about the most appropriate newborn screening strategy for congenital heart defects and to identify priorities for future research that might reduce important uncertainties in the evidence base for such decisions.
Specifically the study aimed to:
A systematic review of the published medical literature concerning outcomes for children with congenital heart defects was carried out. The results of this review were then used in the decision analytic model, based on a population of 100,000 live-born infants, developed to assess the cost-effectiveness of alternative screening strategies for congenital heart defects relevant to the UK.
A study was then carried out exploring the perspectives of parents and health professionals towards the quality of life of children with congenital heart defects. Eight health state descriptions of degrees of cardiac and neurological disability resulting from congenital heart defects were developed and these were presented with a self-administered anonymous questionnaire to two groups of respondents: parents of a child with a congenital heart defect and the health professionals who care for them. Respondents were asked to rank and then score these health states on a visual analogue scale; they then marked the state death on the scale. The views of health professionals and parents about the quality of life of children with congenital heart defects, as represented by these typical health states, were compared.
Finally, a structured review was carried out of the medical literature regarding parental experiences of newborn screening with relevance to screening for congenital heart defects. The findings from the literature review were linked with those from a focus group set up by the study with parents of children with congenital heart defects.
Congenital heart defects affect 78 per 1000 live-born infants and account for 3% of all infant deaths and 46% of deaths due to congenital malformations. Around 1825% of affected infants die in the first year, with 4% of those surviving infancy dying by 16 years.
Long-term sequelae include cardiac arrhythmias, infective endocarditis and pulmonary vascular obstructive disease.
The study found that long-term outcome studies addressing physical disability, neurodevelopmental, cognitive or psychosocial outcomes and the capacity to participate in normal childhood activities are lacking. Severe neurological deficits affect 510% following surgery and milder neurological problems occur in up to one-quarter of children.
Congenital heart defects can be classified into three main types.
The primary objective of newborn screening is the presymptomatic identification of life-threatening congenital heart defects to achieve a timely diagnosis, defined as a preoperative diagnosis before collapse or death occurs. A secondary objective is the detection of clinically significant congenital heart defects.
Current newborn screening policy comprises a clinical examination at birth and 6 weeks, with specific cardiac investigations for specified high-risk children. Routine data are lacking, but under half of affected babies, not previously identified antenatally or because of symptoms, are identified by current newborn screening. There is evidence that screen-positive infants do not receive timely management.
Pulse oximetry and echocardiography, in addition to clinical examination, are alternative newborn screening strategies but their cost-effectiveness has not been adequately evaluated in a UK setting.
In a population of 100,000 live-born infants, the model predicts:
The additional cost per additional timely diagnosis of life-threatening congenital heart defects ranges from £4900 for pulse oximetry to £4.5 million for screening echocardiography. Including clinically significant congenital heart defects gives an additional cost per additional diagnosis of £1500 for pulse oximetry and £36,000 for screening echocardiography. Key determinants for cost-effectiveness are detection rates for pulse oximetry and screening echocardiography.
Parents and health professionals place similar values on the quality of life outcomes of children with congenital heart defects and both are more averse to neurological than to cardiac disability.
Adverse psychosocial effects for parents are focused around poor management and/or false test results.
The main conclusions of the study are as follows.
The findings suggest the following:
The following areas are suggested for further study:
Knowles R, Griebsch I, Dezateux C, Brown J, Bull C, Wren C. Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis. Health Technol Assess 2005;9(44).
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The research reported in this monograph was commissioned by the HTA Programme as project number 99/45/01. The contractual start date was in March 2001. The draft report began editorial review in February 2004 and was accepted for publication in February 2005. As the funder, by devising a commissioning brief, the HTA Programme specified the research question and study design. The authors have been wholly responsible for all data collection, analysis and interpretation, and for writing up their work. The HTA editors and publisher have tried to ensure the accuracy of the authors report and would like to thank the referees for their constructive comments on the draft document. However, they do not accept liability for damages or losses arising from material published in this report.
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Editor-in-Chief: Professor Tom Walley
Series Editors: Dr Peter Davidson, Dr Chris Hyde, Dr Ruairidh Milne, Dr Rob Riemsma and Dr Ken Stein
Managing Editors: Sally Bailey and Sarah Llewellyn Lloyd
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