International Journal of Technology Assessment in Health Care


Comparing the clinical and economic effects of clinical examination, pulse oximetry, and echocardiography in newborn screening for congenital heart defects: A probabilistic cost-effectiveness model and value of information analysis

Ingolf Griebscha1, Rachel L. Knowlesa2, Jacqueline Browna1, Catherine Bulla3, Christopher Wrena4 and Carol A. Dezateuxa5

a1 University of Bristol

a2 UCL Institute of Child Health

a3 Great Ormond Street Hospital for Children

a4 Freemann Hospital

a5 UCL Institute of Child Health


Objectives: Congenital heart defects (CHD) are an important cause of death and morbidity in early childhood, but the effectiveness of alternative newborn screening strategies in preventing the collapse or death—before diagnosis—of infants with treatable but life-threatening defects is uncertain. We assessed their effectiveness and efficiency to inform policy and research priorities.

Methods: We compared the effectiveness of clinical examination alone and clinical examination with either pulse oximetry or screening echocardiography in making a timely diagnosis of life-threatening CHD or in diagnosing clinically significant CHD. We contrasted their cost-effectiveness, using a decision-analytic model based on 100,000 live births, and assessed future research priorities using value of information analysis.

Results: Clinical examination alone, pulse oximetry, and screening echocardiography achieved 34.0, 70.6, and 71.3 timely diagnoses per 100,000 live births, respectively. This finding represents an additional cost per additional timely diagnosis of £4,894 and £4,496,666 for pulse oximetry and for screening echocardiography. The equivalent costs for clinically significant CHD are £1,489 and £36,013, respectively. Key determinants of cost-effectiveness are detection rates and screening test costs. The false-positive rate is very high with screening echocardiography (5.4 percent), but lower with pulse oximetry (1.3 percent) or clinical examination alone (.5 percent).

Conclusions: Adding pulse oximetry to clinical examination is likely to be a cost-effective newborn screening strategy for CHD, but further research is required before this policy can be recommended. Screening echocardiography is unlikely to be cost-effective, unless the detection of all clinically significant CHD is considered beneficial and a 5 percent false-positive rate acceptable.


Professor Carol Dezateux is the Guarantor. This project was funded by the National Health Service (NHS) Health Technology Assessment Programme (Project No. 99/45/01). R.K. was funded by an Medical Research Council (MRC) Health of the Public Special Training Fellowship. Research at the Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust benefits from Research and Development funding received from the NHS Executive. The University of Bristol is the lead center for the MRC Health Services Collaboration. The views and opinions expressed herein are those of the authors and do not necessarily reflect those of the Department of Health. Mr. Griebsch's current affiliation is Merck KGaA Germany. Dr. Brown's current affiliation is Eli Lilly UK.