AK Ewer,^1,2* AT Furmston,³ LJ Middleton,³ JJ Deeks,⁴ JP Daniels,^1,3 HM Pattison,⁵ R Powell,⁵ TE Roberts,⁶ P Barton,⁶ P Auguste,⁶ A Bhoyar,⁷ S Thangaratinam,^1,2 AM Tonks,⁸ P Satodia,⁹ S Deshpande,¹⁰ B Kumararatne,¹¹ S Sivakumar,¹² R Mupanemunda¹³ and KS Khan¹⁴

¹University of Birmingham, School of Clinical and Experimental Medicine, Birmingham, UK
²Birmingham Women’s Healthcare NHS Foundation Trust, Birmingham, UK
³University of Birmingham, Birmingham Clinical Trials Unit, Birmingham, UK
⁴University of Birmingham, Public Health, Epidemiology and Biostatistics, Birmingham, UK
⁵Aston University, School of Life and Health Sciences, Birmingham, UK
⁶University of Birmingham, Health Economics Unit, School of Health and Population Sciences, Birmingham, UK
⁷Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, UK
⁸West Midlands Perinatal Institute, Birmingham, UK
⁹University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
¹⁰The Shrewsbury and Telford Hospital NHS Trust, Shrewsbury, UK
¹¹The Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK
¹²Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK
¹³Heart of England NHS Foundation Trust, Birmingham, UK
¹⁴Barts and the London School of Medicine and Dentistry, London, UK

*Corresponding author

Background

Screening for congenital heart defects (CHDs) relies on antenatal ultrasound and postnatal clinical examination; however, life-threatening defects often go undetected.

Objective

To determine the accuracy, acceptability and cost-effectiveness of pulse oximetry as a screening test for CHDs in newborn infants.

Design

A test accuracy study determined the accuracy of pulse oximetry. Acceptability of testing to parents was evaluated through a questionnaire, and to staff through focus groups. A decision-analytic model was constructed to assess cost-effectiveness.

Setting

Six UK maternity units.

Participants

These were 20,055 asymptomatic newborns at ≥ 35 weeks’ gestation, their mothers and health-care staff.

Interventions

Pulse oximetry was performed prior to discharge from hospital and the results of this index test were compared with a composite reference standard (echocardiography, clinical follow-up and follow-up through interrogation of clinical databases).

Main outcome measures

Detection of major CHDs – defined as causing death or requiring invasive intervention up to 12 months of age (subdivided into critical CHDs causing death or intervention before 28 days, and serious CHDs causing death or intervention between 1 and 12 months of age); acceptability of testing to parents and staff; and the cost-effectiveness in terms of cost per timely diagnosis.

Results

Fifty-three of the 20,055 babies screened had a major CHD (24 critical and 29 serious), a prevalence of 2.6 per 1000 live births. Pulse oximetry had a sensitivity of 75.0% [95% confidence interval (CI) 53.3% to 90.2%] for critical cases and 49.1% (95% CI 35.1% to 63.2%) for all major CHDs. When 23 cases were excluded, in which a CHD was already suspected following antenatal ultrasound, pulse oximetry had a sensitivity of 58.3% (95% CI 27.7% to 84.8%) for critical cases (12 babies) and 28.6% (95% CI 14.6% to 46.3%) for all major CHDs (35 babies). False-positive (FP) results occurred in 1 in 119 babies (0.84%) without major CHDs (specificity 99.2%, 95% CI 99.0% to 99.3%). However, of the 169 FPs, there were six cases of significant but not major CHDs and 40 cases of respiratory or infective illness requiring medical intervention. The prevalence of major CHDs in babies with normal pulse oximetry was 1.4 (95% CI 0.9 to 2.0) per 1000 live births, as 27 babies with major CHDs (6 critical and 21 serious) were missed. Parent and staff participants were predominantly satisfied with screening, perceiving it as an important test to detect ill babies. There was no evidence that mothers given FP results were more anxious after participating than those given true-negative results, although they were less satisfied with the test. White British/Irish mothers were more likely to participate in the study, and were less anxious and more satisfied than those of other ethnicities. The incremental cost-effectiveness ratio of pulse oximetry plus clinical examination compared with examination alone is approximately £24,900 per timely diagnosis in a population in which antenatal screening for CHDs already exists.

Conclusions

Pulse oximetry is a simple, safe, feasible test that is acceptable to parents and staff and adds value to existing screening. It is likely to identify cases of critical CHDs that would otherwise go undetected. It is also likely to be cost-effective given current acceptable thresholds. The detection of other pathologies, such as significant CHDs and respiratory and infective illnesses, is an additional advantage. Other pulse oximetry techniques, such as perfusion index, may enhance detection of aortic obstructive lesions.

Funding

The National Institute for Health Research Health Technology programme.