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

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Abstract

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.

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Abbreviations

AAP:

Academy of Pediatrics

AHA:

American Heart Association

CHD:

Congenital heart disease

CCHD:

Critical congenital heart disease

CI:

Confidence interval

CoA:

Coarctation of the aorta

TIPQC:

Tennessee Initiative for Perinatal Quality Care

References

  1. Aamir T, Kruse L, Ezeakudo O (2007) Delayed diagnosis of critical congenital cardiovascular malformations (CCVM) and pulse oximetry screening of newborns. Acta Paediatr 96:1146–1149. doi:10.1111/j.1651-2227.2007.00389.x

    Article  PubMed  Google Scholar 

  2. Boneva RS, Botto LD, Moore CA, Yang Q, Correa A, Erickson JD (2001) Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979–1997. Circulation 103:2376–2381

    Article  CAS  PubMed  Google Scholar 

  3. Botto LD, Correa A, Erickson JD (2001) Racial and temporal variations in the prevalence of heart defects. Pediatrics 107:e32–e32. doi:10.1542/peds.107.3.e32

    Article  CAS  PubMed  Google Scholar 

  4. Brown KL, Ridout DA, Hoskote A, Verhulst L, Ricci M, Bull C (2006) Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart 92:1298–1302. doi:10.1136/hrt.2005.078097

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. de Wahl Granelli A, Wennergren M, Sandberg K, Mellander M, Bejlum C, Inganas L, Eriksson M, Segerdahl N, Agren A, Ekman-Joelsson BM, Sunnegardh J, Verdicchio M (2009) Impact of pulse oximetry screening on the detection of duct-dependent congenital heart disease: a Swedish prospective screening study in 39 821 newborns. BMJ 338:a3037–a3037. doi:10.1136/bmj.a3037

    Article  Google Scholar 

  6. Ewer AK, Middleton LJ, Furmston AT, Bhoyar A, Daniels JP, Thangaratinam S, Deeks JJ, Khan KS (2011) Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study. Lancet 378:785–794. doi:10.1016/S0140-6736(11)60753-8

    Article  PubMed  Google Scholar 

  7. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG (2009) Research electronic data capture (REDCap): a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42:377–381. doi:10.1016/j.jbi.2008.08.010

    Article  PubMed Central  PubMed  Google Scholar 

  8. Hoke TR, Donohue PK, Bawa PK, Mitchell RD, Pathak A, Rowe PC, Byrne BJ (2002) Oxygen saturation as a screening test for critical congenital heart disease; a preliminary study. Pediatr Cardiol 23:403–409

    Article  CAS  PubMed  Google Scholar 

  9. Israel SW, Roofe LR, Saville BR, Walsh WF (2011) Improvement in antenatal diagnosis of critical congenital heart disease implications for postnatal care and screening. Fetal Diagn Ther 30:180–183. doi:10.1159/000327148

    Article  PubMed  Google Scholar 

  10. Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Howell RR (2011) Strategies for implementing screening for critical congenital heart disease. Pediatrics 128:e1259–e1267. doi:10.1542/peds.2011-1317

    Article  PubMed  Google Scholar 

  11. Koppel RI, Druschel CM, Carter T, Goldberg BE, Mehta PN, Talwar R, Bierman FZ (2003) Effectiveness of pulse oximetry screening for congenital heart disease in asymptomatic newborns. Pediatrics 111:451–455

    Article  PubMed  Google Scholar 

  12. Liske MR, Greeley CS, Law DJ, Reich JD, Morrow WR, Baldwin HS, Graham TP, Strauss AW, Kavanaugh-McHugh AL, Walsh WF (2006) Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease. Pediatrics 118:e1250–e1256. doi:10.1542/peds.2005-3061

    Article  PubMed  Google Scholar 

  13. Mahle WT, Newburger JW, Matherne GP, Smith FC, Hoke TR, Koppel R, Gidding SS, Beekman RH III, Grosse SD (2009) Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the AHA and AAP. Pediatrics 124:823–836. doi:10.1542/peds.2009-1397

    Article  PubMed  Google Scholar 

  14. Mahle WT, Martin GR, Beekman RH III, Morrow WR (2012) Endorsement of Health and Human Services recommendation for pulse oximetry screening for critical congenital heart disease. Pediatrics 129:190–192. doi:10.1542/peds.2011-3211

    Article  PubMed  Google Scholar 

  15. Meberg A, Andreassen A, Brunvand L, Markestad T, Moster D, Nietsch L, Silberg IE, Skalevik JE (2009) Pulse oximetry screening as a complementary strategy to detect critical congenital heart defects. Acta Paediatr 98:682–686. doi:10.1111/j.1651-2227.2008.01199.x

    Article  PubMed  Google Scholar 

  16. Ng B, Hokanson J (2010) Missed congenital heart disease in neonates. Congenit Heart Dis 5:292–296. doi:10.1111/j.1747-0803.2010.00418.x

    Article  PubMed  Google Scholar 

  17. Overbey D, Haynes R, trans (2012) HB 0373/SB 0065. 107th General Assembly. Tennessee Code Annotated, Spring. Tennessee Office of Legal Services, Nashville, TN

  18. Reich JD, Connolly B, Bradley G, Littman S, Koeppel W, Lewycky P, Liske M (2008) The reliability of a single pulse oximetry reading as a screening test for congenital heart disease in otherwise asymptomatic newborn infants. Pediatr Cardiol 29:885–889. doi:10.1007/s00246-008-9214-3

    Article  CAS  PubMed  Google Scholar 

  19. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A (2008) Prevalence of congenital heart defects in metropolitan Atlanta, 1998–2005. J Pediatr 153:807–813. doi:10.1016/j.jpeds.2008.05.059

    Article  PubMed Central  PubMed  Google Scholar 

  20. Report of Tennessee Births 2011. http://health.state.tn.us/statistics/birth.htm. Accessed 13 March 2013

  21. Riede FT, Worner C, Dahnert I, Mockel A, Kostelka M, Schneider P (2010) 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 169:975–981. doi:10.1007/s00431-010-1160-4

    Article  PubMed Central  PubMed  Google Scholar 

  22. Tennessee Initiative for Perinatal Quality Care. http://tipqc.org/. Accessed 6 Aug 2012

  23. Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK (2012) Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet 379:2459–2464. doi:10.1016/S0140-6736(12)60107-X

    Article  PubMed  Google Scholar 

  24. Walsh W (2011) Evaluation of pulse oximetry screening in Middle Tennessee: cases for consideration before universal screening. J Perinatol 31:125–129. doi:10.1038/jp.2010.70

    Article  CAS  PubMed  Google Scholar 

  25. Wren C, Reinhardt Z, Khawaja K (2008) Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Arch Dis Child Fetal Neonatal Ed 93:F33–F35. doi:10.1136/adc.2007.119032

    Article  CAS  PubMed  Google Scholar 

  26. Xu J, Kochanek KD, Murphy SL, Tejada-Vera B (2010) Deaths: final data for 2007. In: US Department of Health and Human Services DoVS, vol 58, 2010

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Acknowledgments

The first author’s fellowship training is supported by the T32HL 105334 Grant from the National Institutes of Health. The study was supported in part by REDCap database grant UL1 TR000445 from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health and Vanderbilt CTSA grant UL1 RR024975 from the National Center for Research Resources at the National Institutes of Health.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Division of Pediatric Cardiology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Vanderbilt Medical Center, Nashville, TN, USA

    Jessica H. Mouledoux

  2. Division of Neonatology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Vanderbilt Medical Center, Nashville, TN, USA

    William F. Walsh

Authors
  1. Jessica H. Mouledoux
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  2. William F. Walsh
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Corresponding author

Correspondence to Jessica H. Mouledoux.

Additional information

This research was conducted and manuscript compiled on behalf of the Tennessee Initiative for Perinatal Quality Care Undetected Critical Congenital Heart Disease Registry.

Registry contributors are listed in the Appendix.

Appendix

Appendix

The contributors to the TIPQC Undetected CCHD Registry are Drs Mark E. Anderson, Rajani Anand, H. Scott Baldwin, Jean Ballweg, William Devoe, Casilda Hermo, Jeffory Jennings, Michael Liske, Dennis Stokes, and Nisha Surenderanath. We thank Dr. Mouledoux’s mentor and manuscript editor, Dr. Stacy Killen; TIPQC Medical Director, Dr. Peter Grubb; TIPQC Project Director, Brenda Barker; and State of Tennessee Births Defects Epidemiologist, Dr. David Law.

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Mouledoux, J.H., Walsh, W.F. Evaluating the Diagnostic Gap: Statewide Incidence of Undiagnosed Critical Congenital Heart Disease Before Newborn Screening With Pulse Oximetry. Pediatr Cardiol 34, 1680–1686 (2013). https://doi.org/10.1007/s00246-013-0697-1

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  • DOI: https://doi.org/10.1007/s00246-013-0697-1

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