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Defining critical congenital heart disease (CCHD) and screening protocol

Author Trinh Nguyen

What is congenital heart disease (CHD), and how common is it?

Congenital heart disease (CHD) is defined as a structural abnormality of the heart that is present at birth, which impacts proper and/or optimal blood flow.

CHD is the most common congenital malformation, occurring in approximately 8 per 1,000 births.1 Though mortality has decreased over time, CHD remains one of the leading causes of death in children younger than one year of age. 2 3
 

What is Critical Congenital Heart Disease (CCHD)?

Critical congenital heart disease (CCHD) is a subset of lesions commonly defined as “any potentially life-threatening, duct-dependent heart lesion from which infants either die or require invasive procedures (surgery or cardiac catheterization) in the first 28 days of life,4” although some research extends the definition to include the first year of life.5

While CCHD cases vary widely by geographic location, they are reported in approximately 1–3 per 1,000 live births.2 6-10


How is CCHD diagnosed?

Babies born with CCHD are often asymptomatic at birth, with symptoms potentially not appearing until after hospital discharge.11 Late recognition of CCHD, reported in 10–30% of CCHD patients, can result in increased morbidity and mortality.8 12-18

Early recognition of CCHD can allow for timely intervention, avoiding cardiovascular collapse and contributing to positive outcomes.19

In addition to antenatal ultrasound screening and clinical evaluation, it has been shown that pulse oximetry can be cost-effective 20† 21‡ and provide a noninvasive method for improving early diagnosis rates of CCHD, especially in low-resource areas.1 20 22-24 Neonates with an abnormal pulse oximetry screening are 5.5 times more likely to have CCHD compared to those with a normal screening.25

 

CCHD screening protocol

Pulse oximetry screening practices for CCHD vary widely around the globe. In the United States, universal pulse oximetry screening was added to the Recommended Universal Screening Panel by the department of Health and Human Services (HHS) in 2011 and adopted by all states and the District of Columbia by 2018.28

In contrast, Canada29 and most European countries26 have not yet adopted mandatory screening measures. Saudi Arabia adopted universal screening in 2016.30 New Zealand is developing national screening guidelines to be available in 2022.31 In China, several pilot screening programs have been deployed, though none are yet widely adopted.32

A commonly used screening protocol in the United States27 33 is the one recommended by the American Academy of Pediatrics (AAP, see schematic below), which is also endorsed by the Canadian Pediatric Cardiology Association.29 This screening algorithm demonstrates the lowest retesting rate when compared to other algorithms, which is important because it can provide cost and workflow benefits.33

CCHD screening protocol work flow

More about CCHD and pulse oximetry

To learn more about critical congenital heart disease (CCHD) and how pulse oximetry can be used, read more on our blog here or review the findings in full in our whitepaper summarizing the clinical evidence in CCHD.

To learn more about how Nellcor™ pulse oximetry can help in CCHD screening, read more on our website.

The Nellcor™ pulse oximetry monitoring system should not be used as the sole basis for diagnosis or therapy and is intended only as an adjunct in patient assessment.

†According to a model based cost effectiveness analysis comparing pulse oximetry screening to no pulse oximetry screening from the Ontario healthcare payer perspective. Pulse oximetry screening yielded an incremental cost effectiveness ratio of CAD$1,110.79 per quality-adjusted life months. This was well below the predetermined threshold of CAD$4,166.67.
‡According to a prospective analysis of costs and cost effectiveness of pulse oximetry screening on 100,000 newborns in the Dutch perinatal care setting. Pulse oximetry screening yielded an incremental cost-effectiveness ratio of €139,000 per additional newborn with CCHD. There was a willingness to pay threshold placed at €20,000 per gained quality adjusted life year.

1. Kumar P. Universal pulse oximetry screening for early detection of critical congenital heart disease. Clinical Medicine Insights: Pediatrics 2016;10:CMPed. S33086.

2. Zimmerman MS, Smith AGC, Sable CA, et al. Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. The Lancet Child & Adolescent Health 2020;4(3):185-200.

3. Wu W, He J, Shao X. Incidence and mortality trend of congenital heart disease at the global, regional, and national level, 1990–2017. Medicine 2020;99(23).

4. Plana MN, Zamora J, Suresh G, et al. Pulse oximetry screening for critical congenital heart defects. Cochrane Database of systematic reviews 2018(3).

5. CDC. Critical Congenital Heart Defects: National Center on Birth Defects and Developmental Disabilities; 2020 [Available from: https://www.cdc.gov/ ncbddd/heartdefects/cchd-facts.html accessed 08-24 2021.

6. Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American college of cardiology 2002;39(12):1890-900.

7. Bakker MK, Bergman JE, Krikov S, et al. Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study. BMJ open 2019;9(7):e028139.

8. Eckersley L, Sadler L, Parry E, et al. Timing of diagnosis affects mortality in critical congenital heart disease. Archives of disease in childhood 2016;101(6):516-20.

9. Pinto NM, Waitzman N, Nelson R, et al. Early childhood inpatient costs of critical congenital heart disease. The Journal of pediatrics 2018;203:371-79. e7.

10. Purkey NJ, Axelrod DM, McElhinney DB, et al. Birth location of infants with critical congenital heart disease in California. Pediatric cardiology 2019;40(2):310-18.

11. Bruno CJ, Havranek T. Screening for critical congenital heart disease in newborns. Advances in pediatrics 2015;62(1):211-26.

12. 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(1):190-92.

13. Brown KL, Ridout DA, Hoskote A, et al. Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart (British Cardiac Society) 2006;92(9):1298-302. doi: 10.1136/ hrt.2005.078097 [published Online First: 2006/02/02].

14. Good RJ, Canale SK, Goodman RL, et al. Identification of critical congenital heart disease in Vermont: the role of universal pulse oximetry screening in a rural state. Clinical pediatrics 2015;54(6):570-74.

15. Bartos M, Lannering K, Mellander M. Pulse oximetry screening and prenatal diagnosis play complementary roles in reducing risks in simple transposition of the great arteries. Acta Paediatrica 2015;104(6):557-65.

16. Peterson C, Dawson A, Grosse SD, et al. Hospitalizations, costs, and mortality among infants with critical congenital heart disease: how important is timely detection? Birth defects research Part A, Clinical and molecular teratology 2013;97(10):664-72. doi: 10.1002/bdra.23165 [published Online First: 2013/09/04].

17. Fixler DE, Xu P, Nembhard WN, et al. Age at referral and mortality from critical congenital heart disease. Pediatrics 2014;134(1):e98-e105.

18. Chang R-KR, Gurvitz M, Rodriguez S. Missed diagnosis of critical congenital heart disease. Archives of pediatrics & adolescent medicine 2008;162(10):969-74.

19. 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(2):823-36.

20. Mukerji A, Shafey A, Jain A, et al. Pulse oximetry screening for critical congenital heart defects in Ontario, Canada: A cost-effectiveness analysis. Canadian Journal of Public Health 2020;111(5):804-11.

21. Narayen IC, Te Pas AB, Blom NA, et al. Cost-effectiveness analysis of pulse oximetry screening for critical congenital heart defects following homebirth and early discharge. European journal of pediatrics 2019;178(1):97-103.

22. Ewer AK. Evidence for CCHD screening and its practical application using pulse oximetry. Early human development 2014;90:S19-S21.

23. Krishna MR, Kumar RK. Diagnosis and Management of Critical Congenital Heart Diseases in the Newborn. The Indian Journal of Pediatrics 2020;87(5):365-71. doi: 10.1007/s12098-019-03163-4.

24. Narayen IC, Blom NA, van Geloven N, et al. Accuracy of pulse oximetry screening for critical congenital heart defects after home birth and early postnatal discharge. The Journal of pediatrics 2018;197:29-35. e1.

25. 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. The Lancet 2012;379(9835):2459-64.

26. Manzoni P, Martin GR, Luna MS, et al. Pulse oximetry screening for critical congenital heart defects: a European consensus statement. The Lancet Child & Adolescent Health 2017;1(2):88-90.

27. Kemper AR, Mahle WT, Martin GR, et al. Strategies for implementing screening for critical congenital heart disease. Pediatrics 2011;128(5):e1259-e67.

28. Glidewell J, Grosse SD, Riehle-Colarusso T, et al. Actions in Support of Newborn Screening for Critical Congenital Heart Disease - United States, 2011-2018. MMWR Morbidity and mortality weekly report 2019;68(5):107-11. doi: 10.15585/mmwr.mm6805a3 [published Online First: 2019/02/08].

29. Wong KK, Fournier A, Fruitman DS, et al. Canadian Cardiovascular Society/ Canadian Pediatric Cardiology Association position statement on pulse oximetry screening in newborns to enhance detection of critical congenital heart disease. Canadian Journal of Cardiology 2017;33(2):199-208.

30. Al-Aql F, Khaleel H, Peter V. Universal screening for CCHD in Saudi Arabia: The road to a ‘State of the Art’program. International journal of neonatal screening 2020;6(1):13.

31. Health NZMo. National guidelines for newborn pulse oximetry screening 2021 [Available from: https://consult.health.govt.nz/nsu/newborn-pulse-oximetryscreening/ accessed 09/28/2021.

32. Liu X, Xu W, Yu J, et al. Screening for congenital heart defects: diversified strategies in current China. World Journal of Pediatric Surgery 2019;2(1):e000051. doi: 10.1136/wjps-2019-000051.

33. Kochilas LK, Menk JS, Saarinen A, et al. A comparison of retesting rates using alternative testing algorithms in the pilot implementation of critical congenital heart disease screening in Minnesota. Pediatr Cardiol 2015;36(3):550-4. doi: 10.1007/s00246-014-1048-6 [published Online First: 2014/10/12].