Recent research

Pediatrics. 2013 Sep;132(3):e595-603.

Cost-Effectiveness of Routine Screening for Critical Congenital Heart Disease in US Newborns.

Peterson C, Grosse SD, Oster ME, Olney RS, Cassell CH.
Contact: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, MS E-86, Atlanta, GA 30333.

OBJECTIVES: Clinical evidence indicates newborn critical congenital heart disease (CCHD) screening through pulse oximetry is lifesaving. In 2011, CCHD was added to the US Recommended Uniform Screening Panel for newborns. Several states have implemented or are considering screening mandates. This study aimed to estimate the cost-effectiveness of routine screening among US newborns unsuspected of having CCHD.

METHODS: We developed a cohort model with a time horizon of infancy to estimate the inpatient medical costs and health benefits of CCHD screening. Model inputs were derived from new estimates of hospital screening costs and inpatient care for infants with late-detected CCHD, defined as no diagnosis at the birth hospital. We estimated the number of newborns with CCHD detected at birth hospitals and life-years saved with routine screening compared with no screening.

RESULTS: Screening was estimated to incur an additional cost of $6.28 per newborn, with incremental costs of $20 862 per newborn with CCHD detected at birth hospitals and $40 385 per life-year gained (2011 US dollars). We estimated 1189 more newborns with CCHD would be identified at birth hospitals and 20 infant deaths averted annually with screening. Another 1975 false-positive results not associated with CCHD were estimated to occur, although these results had a minimal impact on total estimated costs.

CONCLUSIONS: This study provides the first US cost-effectiveness analysis of CCHD screening in the United States could be reasonably cost-effective. We anticipate data from states that have recently approved or initiated CCHD screening will become available over the next few years to refine these projections.

Arch Dis Child Fetal Neonatal Ed. 2013 Aug 9.

Pulse oximetry screening for critical congenital heart defects in newborn infants: Should it be routine?

Ewer AK.

Screening with pulse oximetry for critical congenital heart defects is the subject of much recent debate. This review will explore the recent evidence for screening and discuss how implementation of screening might be best achieved.

Pediatrics. 2013 Jul;132(1):e185-92.

Implementing recommended screening for critical congenital heart disease.

Martin GR, Beekman RH 3rd, Mikula EB, Fasules J, Garg LF, Kemper AR, Morrow WR, Pearson GD, Mahle WT.
Contact: Children’s National Medical Center, The George Washington University School of Medicine, Washington, DC, USA.

BACKGROUND AND OBJECTIVE: Critical congenital heart disease (CCHD) is endorsed by the US Secretary of Health and Human Services as part of the recommended uniform screening panel for newborns. Although initial recommendations for implementation exist, as states and hospitals have moved forward with implementation of screening, new challenges and areas for additional focus have been identified. The objective of this study was to develop recommendations to address current challenges and areas of focus surrounding CCHD newborn screening.
A workgroup of experts and stakeholders was convened in Washington, District of Columbia, for a 1-day meeting in February 2012. At the beginning of the meeting, the stakeholders held a brainstorming session to identify areas of main priority based on their experience. After this, stakeholders broke into small groups to refine recommendations, which were then finalized by consensus.
Recommendations to address selection of screening equipment, standards for reporting of screening outcomes to stakeholders, training of health care providers and educating families, future research priorities, payment for screening, follow-up diagnostic testing, and public health oversight, and advocacy to facilitate effective and comprehensive screening were proposed. Suggestions for future work were developed.
Screening for CCHD presents novel challenges and opportunities; however, addressing these will strengthen newborn screening and newborn care networks, and ultimately improve health outcomes.

Pediatr Cardiol. 2013 Apr 18.

Evaluating the Diagnostic Gap: Statewide Incidence of Undiagnosed Critical Congenital Heart Disease Before Newborn Screening With Pulse Oximetry.

Mouledoux JH, Walsh WF.
Contact: Division of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt Medical Center, Nashville, TN, USA,

Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. We sought to determine the incidence of undetected CCHD in Tennessee and the diagnostic gap of CCHD in Middle Tennessee prior to screening implementation. The Tennessee Initiative for Perinatal Quality Care (TIPQC) Undetected CCHD Registry is a quality improvement initiative established to identify neonates discharged from the nursery with undetected CCHD. The TIPQC database was queried and a simultaneous review of all neonates with CCHD in the Middle Tennessee region was performed to define the incidence and identify the pre-screen diagnostic gap of undetected CCHD at the time of hospital discharge. In 2011, of 79,462 live births in Tennessee, 12 newborns had undiagnosed CCHD (incidence 15 per 100,000; 95 % CI 9-26 per 100,000). Nine of 12 (75 %) had coarctation of the aorta (CoA). There were no deaths due to undiagnosed CCHD. In the Middle Tennessee region, 6 of 45 neonates with CCHD were missed, for a diagnostic gap of 13 % (95 % CI 6-26 %). Prior to implementation of CCHD screening using pulse oximetry, 12 Tennessee neonates with CCHD were missed by prenatal ultrasound and newborn examination. CoA was the most common lesion missed and is also the CCHD most likely to be missed despite addition of screening using pulse oximetry. Continued evaluation of the diagnostic gap with particular attention to missed diagnoses of CoA should accompany institution of CCHD screening programs.

Curr Opin Cardiol. 2013 Mar;28(2):92-6.

Review of pulse oximetry screening for critical congenital heart defects in newborn infants.

Ewer AK.
Contact: University of Birmingham and Birmingham Women's Hospital, Birmingham, UK.

PURPOSE OF REVIEW: The concept of using pulse oximetry as a screening method to detect undiagnosed critical congenital heart defects (CCHD) in asymptomatic newborns was first explored over 10 years ago. A number of studies were subsequently reported, which initially involved relatively small numbers of patients, low prevalence of CCHD and heterogeneous methodology. As a consequence, the majority of clinicians felt the case for routine pulse oximetry screening had not been proven.
RECENT FINDINGS: In the last 3 years, four European studies reporting the test accuracy of routine pulse oximetry screening, and involving over 150 ,000 babies, have strengthened the argument. A systematic review and meta-analysis of almost 230 ,000 screened babies has also recently been published which reported high specificity, moderate sensitivity and a low false-positive rate. In addition, acceptability to parents and staff, cost-effectiveness and feasibility of implementing screening outside the research context have also been reported.
SUMMARY: Pulse oximetry screening is a highly specific, moderately sensitive test, which is acceptable to parents and staff, likely to be cost-effective and fulfils the criteria for universal screening. Routine screening for CCHD using pulse oximetry is being increasingly supported and was added to the recommended uniform screening panel in the USA in 2011.

Lancet. 2012 Jun 30;379(9835):2459-64.

Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis.

Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK.
Contact: Women's Health Research Unit, Centre for Primary Care and Public Health, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

BACKGROUND: Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. We assessed the performance of pulse oximetry as a screening method for the detection of critical congenital heart defects in asymptomatic newborn babies.
METHODS: In this systematic review, we searched Medline (1951-2011), Embase (1974-2011), Cochrane Library (2011), and Scisearch (1974-2011) for relevant citations with no language restriction. We selected studies that assessed the accuracy of pulse oximetry for the detection of critical congenital heart defects in asymptomatic newborn babies. Two reviewers selected studies that met the predefined criteria for population, tests, and outcomes. We calculated sensitivity, specificity, and corresponding 95% CIs for individual studies. A hierarchical receiver operating characteristic curve was fitted to generate summary estimates of sensitivity and specificity with a random effects model.
FINDINGS: We screened 552 studies and identified 13 eligible studies with data for 229,421 newborn babies. The overall sensitivity of pulse oximetry for detection of critical congenital heart defects was 76·5% (95% CI 67·7-83·5). The specificity was 99·9% (99·7-99·9), with a false-positive rate of 0·14% (0·06-0·33). The false-positive rate for detection of critical congenital heart defects was particularly low when newborn pulse oximetry was done after 24 h from birth than when it was done before 24 h (0·05% [0·02-0·12] vs 0·50 [0·29-0·86]; p=0·0017).
INTERPRETATION: Pulse oximetry is highly specific for detection of critical congenital heart defects with moderate sensitivity, that meets criteria for universal screening.