Resistance to CCHD screening has also been observed among clinicians in the United States. In a 2009 survey of 363 pediatric cardiologists, 42% reported that current practice is inadequate for detecting significant CHD, yet only 55% supported the mandated use of CCHD screening for all newborns.30 Concerns among the survey respondents at that time included “too many false-positives” with pulse oximetry (26%), the technology is “prone to noise and artifact” (21%), and screening is “very operator-dependent” (30%).
More recently, however, new protocols and recommendations have been published to reduce false-positive rates and address other technologic barriers to pulse-oximetry screening (see “Current screening recommendations”).23
Current screening recommendations
Universal screening for CCHD is rapidly becoming the standard of care for infants born in the United States as a result of efforts by the U.S. Department of Health and Human Services (HHS) Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) and other national groups. A brief history of the road to universal screening for CCHD is helpful for putting next steps into context.
Road to universal screening
The current HHS, American Academy of Pediatrics (AAP), and the American Heart Association (AHA) endorsement of universal screening for CCHD caps off years of work by leaders in pediatric cardiology and other fields.
2009: The AHA and the AAP published a joint scientific statement describing the compelling reasons for utilizing pulse oximetry as part of the newborn clinical evaluation for CCHD.31 Based on the evidence at the time, however, the AHA/AAP statement stopped short of recommending universal screening. Instead, the AHA/AAP called for additional data on key issues that required further clarification, including the following:
- Variability in arterial SpO2 during the first 24 hours following birth
- Variable definitions of abnormal oxygen saturation (i.e., <92% vs. ≤95%)
- Influence of altitude on test performance
- Position of the oximetry probe (i.e., upper- or lower-extremity positioning)
- Potential implementation at the population level.
2010: The SACHDNC recommended adding CCHD screening to the recommended uniform screening panel.22 At the time, however, the HHS Secretary was not ready to adopt this recommendation pending an implementation plan from HHS agencies.32
2011: A work group convened to establish a standardized protocol for CCHD screening, including initial screening and follow-up. A white paper outlining the work-group recommendations has been endorsed by the AAP, the AHA, the American College of Cardiology Foundation (ACCF), and other advocacy organizations, including the March of Dimes.22 These recommendations are summarized in Table 2. Also in 2011, HHS Secretary Kathleen Sebelius endorsed the SACHDNC recommendation to add CCHD to the uniform screening panel for newborns.32
2012: The AAP published a policy statement supporting the HHS endorsement of universal screening for CCHD.23 The AAP also provided guidance for implementing screening into clinical practice.23
|Key recommendations for pulse-oximetry screening|
|Screening is targeted toward healthy newborn infants.|
|Screening should not occur until 24 hours of life, or as late as possible if early discharge is planned.|
|Oxygen saturation readings should be obtained in the right hand and one foot.
-A reading of ≥95% in either extremity with a ≤3% absolute difference between the upper and lower extremity is considered normal, and no further screening is required.
-Repeated measurements are recommended when the initial screening result is positive.
-Any infant with oxygen saturation <90% should receive immediate evaluation.
-Thresholds for positive findings may need adjustment in high-altitude areas.
|For infants with positive screening results, CCHD needs to be excluded with a diagnostic echocardiogram. Infectious and pulmonary causes of hypoxemia should also be excluded.|
|Source: Kemper AR, et al. Pediatrics. 2011;128:e1259-e1267.|
Next steps for screening
Although the HHS Secretary has recommended that screening for CCHD be added to the recommended uniform screening panel for newborns, it will be the responsibility of individual states to determine implementation of their own screening programs. This may be accomplished by legislation, regulation, or adoption as a standard of practice.23 In 2011, New Jersey became the first state to mandate universal screening of infants born in birthing facilities.33
Successful implementation of the CCHD screening recommendations will depend on standardized screening criteria within hospitals and the public health system’s commitment to support surveillance. Implementation will also require the integrated participation of the full spectrum of health-care professionals, from pediatric cardiologists and hospital staff to primary-care providers and families.7
While the infrastructure is being developed, community hospitals will be on the front lines of successfully implementing pulse oximetry with a high degree of accuracy.7 An essential component of that strategy also entails the coordination of care between hospitals and primary-care providers.22
Several medical centers across the United States have begun implementing CCHD screening programs, based on screening recommendations from the AAP, the AHA, the ACCF, and other organizations.22 For instance, Children’s National Medical Center in Washington, D.C., has developed the Congenital Heart Disease Screening Program (CHDSP). The CHDSP provides a toolkit for health-care providers and families, including a pulse-oximetry screening protocol (Figure 3).34 The toolkit is available at www.childrensnational .org/PulseOx/. (Accessed September 7, 2012.)
CCHD screening using pulse oximetry is a simple, non-invasive, evidence-based tool that enhances the early identification of newborns with CCHD. On the heels of recent endorsements from the HHS Secretary, the AAP, the AHA, the ACCF, and other societies, pulse-oximetry screening is poised to change the standard of care in newborn nurseries.
Successful roll-out will depend on standardized screening criteria within hospitals and other care settings as well as commitment from state public health systems to support surveillance. Across the continuum of care for CCHD — from the neonatal intensive care unit and in-hospital management to discharge and follow-up care — health-care providers can participate in the implementation of pulse-oximetry screening protocols in their institutions.
Gerard R. Martin, MD, (CHAIR) is the Co-Director, of the Children’s National Heart Institute at the Children’s National Medical Center, and a Professor of Pediatrics at George Washington University, in Washington, DC.
Alex R. Kemper, MD, MPH, MS, practices in the Department of Pediatrics at the Community and Family Medicine
Duke University School of Medicine, in Durham, NC.
Elizabeth A. Bradshaw, MSN, RN, CPN, is the Coordinator for the Congenital Heart Disease Screening Program at the Children’s National Medical Center, in Washington, DC.
- Centers for Disease Control and Prevention. Pulse oximetry screening for critical congenital heart defects.
- van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta- analysis. JAm Coll Cardiol. 2011;58:2241-2247.
- Knapp AA, Metterville DR, Kemper AR et al. Evidence review: critical congenital cyanotic heart disease. Prepared for the Maternal and Child Health Bureau, U.S. Department of Health and Human Services. September 3, 2010.
- Wren C, Reinhardt Z, Khawaja K. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Arch Dis Child Fetal Neonatal Ed. 2008;93:F33-F35.
- Riede FT, Worner C, Dahnert I, et al. Effectiveness of neonatal pulse oximetry screening for detection of critical congenital heart disease in daily clinical routine—results from a prospective multicenter study. Eur J Pediatr. 2010;169:975-981.
- Hoffman JI. It is time for routine neonatal screening by pulse oximetry. Neonatology. 2011;99:1-9.
- Cuzzi S, Bradshaw E. The road to universal pulse-oximetry screening: are we there yet? Pediatrics. 2011;128:e1271-el272.
- Mellander M, Sunnegardh J. Failure to diagnose critical heart malformations in newborns before discharge—an increasing problem? Acta Paediatr. 2006;95:407-413.
- de-Wahl Granelli A, Wennergren M, Sandberg K, et al. Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39,821 newborns. BMJ. 2009;338:a3037.
- Ng B, Hokanson J. Missed congenital heart disease in neonates. Congenit Heart Dis. 2010;5:292-296.
- Chang RK, Gurvitz M, Rodriguez S. Missed diagnosis of critical congenital heart disease. Arch Pediatr Adolesc Med. 2008;162:969-974.
- Schultz AH, Localio AR, Clark BJ, et al. Epidemiologic features of the presentation of critical congenital heart disease: implications for screening. Pediatrics. 2008;121:751-757.
- Fuchs IB, Muller H, Abdul-Khaliq H, et al. Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects. Ultrasound Obstet Gynecol. 2007;29:38-43.
- O’Donnell CP, Kamlin CO, Davis PG, et al. Clinical assessment of infant colour at delivery. Arch Dis Child Fetal Neonatal Ed. 2007;92:F465-F467.
- Jopling J, Henry E, Wiedmeier SE, et al. Reference ranges for hematocrit and blood hemoglobin concentration during the neonatal period: data from a multihospital health care system. Pediatrics. 2009;123: e333-e337.
- Hokanson JS. Pulse oximetry screening for unrecognized congenital disease in neonates. Congen Cardiol Today. 2011;9:1-6.
- Thangaratinam S, Brown K, Zamora J, et al. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012. May 1.
- Griebsch I, Knowles RL, Brown J, et al. 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. Int J Technol Assess Health Care. 2007;23:192-204.
- Ewer AK, Furmston AT, Middleton LJ, et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness. Health Technol Assess. 2012;16:v-xiii, 1-184.
- Roberts TE, Barton PM, Auguste PE, et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a cost-effectiveness analysis. Arch Dis Child. 2012;97:221-226.
- Levesque BM, Pollack P, Griffin BE, et al. Pulse oximetry: what’s normal in the newborn nursery? Pediatr Pulmonol. 2000;30:406-412.
- Kemper AR, Mahle WT, Martin GR, et al. Strategies for implementing screening for critical congenital heart disease. Pediatrics. 2011;128:e1259-e1267.
- Mahle WT, Martin GR, Beekman RH, et al. Endorsement of Health and Human Services recommendation for pulse oximetry screening for critical congenital heart disease. Pediatrics. 2012;129:190-192.
- Knowles R, Griebsch I, Dezateux C, et al. Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis. Health Technol Assess. 2005;9:1-152, iii-iv.
- Ewer AK, Middleton LJ, Furmston AT, et al. Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study. Lancet. 2011;378:785-794.
- Meberg A, Andreassen A, Brunvand L, et al. Pulse oximetry screening as a complementary strategy to detect critical congenital heart defects. Acta Paediatr. 2009;98:682-686.
- Kemper AR, Boyle CA, Aceves J, et al. Long-term follow-up after diagnosis resulting from newborn screening: statement of the U.S. Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med. 2008;10:259-261.
- Watson MS, Mann MY, Lloyd-Puryear MA, et al; American College of Medical Genetics Newborn Screening Group. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics. 2006;117(5 pt 2):S296-S307.
- Kang SL, Tobin S, Kelsall W. Neonatal pulse oximetry screening: a national survey. Arch Dis Child Fetal Neonatal Ed. 2011;96:F312.
- Chang R-K, Rodriguez S, Klitzner T. Screening newborns for congenital heart disease with pulse oximetry: survey of pediatric cardiologists. Pediatr Cardiol. 2009;30:20-25.
- Mahle WT, Newburger JW, Matherne GP, et al. Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the AHA and AAP. Pediatrics. 2009;124:823-836.
- Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Recommendations and responses from the HHS Secretary.
- New Jersey Department of Health and Senior Services. Newborn Screening and Genetic Services Program.
- Children’s National Medical Center CHD Screening Program.
All electronic documents accessed September 7, 2012.