Neonatal screening for critical congenital heart disease: five-year experience of a tertiary hospital

Introduction: Congenital heart disease (CHD) is the most prevalent congenital anomaly and a leading cause of neonatal morbidity and mortality. Approximately 25% of CHD cases are classified as critical congenital heart disease (CCHD), which requires percutaneous or surgical intervention within the first year of life. Pulse oximetry (POx) has been proposed as an effective, non-invasive screening tool for CCHD, particularly in tertiary hospitals where high-risk newborns are often managed. This study aimed to evaluate the implementation, effectiveness, and outcomes of a neonatal CCHD screening program at hospital discharge in a tertiary hospital. Methods: A retrospective observational study was conducted over five years at a tertiary hospital, following the 2017 adoption of a POx-based CCHD screening protocol. Newborns with abnormal POx results underwent echocardiographic evaluation. Data were collected on screening adherence and screening results, including positive test rates and positive predictive value (PPV). Results: Out of 11,800 newborns admitted to the postnatal ward, 94% (n = 11,094) were screened for CCHD using POx. Abnormal POx results were observed in 0.5% of cases (n = 56), prompting echocardiographic follow-up. No cases of CCHD were identified, yielding a false-positive rate of 0.5%. Out of the referred cases, six newborns were diagnosed with non-critical CHD and two with non-cardiac conditions. The PPV was 0% for CCHD, 0.05% for non-critical CHD, and 0.02% for non-cardiac conditions. Conclusion: While this screening program was effectively implemented, no CCHD cases were identified. The findings highlight the need for further research to evaluate the role of POx screening across different hospital levels.

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Publication Details

Journal
Portuguese Journal of Pediatrics
Published
2026-06-16
DOI
https://doi.org/10.24875/pjp.24000097
Primary Topic
Congenital Heart Disease Studies
Type
article
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article

Neonatal screening for critical congenital heart disease: five-year experience of a tertiary hospital

Mónica Rebelo, Mariana Ruivo, Alberto Berenguer, ALEXANDRA ANDRADE et al.
Portuguese Journal of Pediatrics
Congenital Heart Disease Studies
article

Neonatal screening for critical congenital heart disease: five-year experience of a tertiary hospital

Mónica Rebelo, Mariana Ruivo, Alberto Berenguer, ALEXANDRA ANDRADE, Mariana Ferreira, André M. Graça, Filipa Carmo, Carolina Ferreira Gonçalves
article en

Abstract

Introduction: Congenital heart disease (CHD) is the most prevalent congenital anomaly and a leading cause of neonatal morbidity and mortality. Approximately 25% of CHD cases are classified as critical congenital heart disease (CCHD), which requires percutaneous or surgical intervention within the first year of life. Pulse oximetry (POx) has been proposed as an effective, non-invasive screening tool for CCHD, particularly in tertiary hospitals where high-risk newborns are often managed. This study aimed to evaluate the implementation, effectiveness, and outcomes of a neonatal CCHD screening program at hospital discharge in a tertiary hospital. Methods: A retrospective observational study was conducted over five years at a tertiary hospital, following the 2017 adoption of a POx-based CCHD screening protocol. Newborns with abnormal POx results underwent echocardiographic evaluation. Data were collected on screening adherence and screening results, including positive test rates and positive predictive value (PPV). Results: Out of 11,800 newborns admitted to the postnatal ward, 94% (n = 11,094) were screened for CCHD using POx. Abnormal POx results were observed in 0.5% of cases (n = 56), prompting echocardiographic follow-up. No cases of CCHD were identified, yielding a false-positive rate of 0.5%. Out of the referred cases, six newborns were diagnosed with non-critical CHD and two with non-cardiac conditions. The PPV was 0% for CCHD, 0.05% for non-critical CHD, and 0.02% for non-cardiac conditions. Conclusion: While this screening program was effectively implemented, no CCHD cases were identified. The findings highlight the need for further research to evaluate the role of POx screening across different hospital levels.

Portuguese Journal of Pediatrics
Good health and well-being
Openalex Percentile: Top 8%
Congenital Heart Disease Studies
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