- Volume - Number
- Published: June 15, 2026
Neonatal screening for critical congenital heart disease: five-year experience of a tertiary hospital
Mariana Ruivo 1, Filipa Carmo 1, Carolina Ferreira Gonçalves 2, Alexandra Andrade 3, Mariana Ferreira 4, Mónica Rebelo 5, André M. Graça 6, Alberto Berenguer 7
1 Serviço de Pediatria Médica, Departamento de Pediatria, Unidade Local Saúde Santa Maria, Lisboa, Portugal; 2 Serviço de Medicina Intensiva Neonatal e Pediátrica do Hospital Dr. Nélio Mendonça, Funchal, Portugal; 3 Serviço de Pediatria do Hospital Dr. Nélio Mendonça, Funchal, Portugal; 4 Serviço de Obsterícia, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Unidade Local Saúde Santa Maria, Lisboa, Portugal; 5 Serviço de Cardiologia Pediátrica, Departamento de Pediatria, Unidade Local Saúde Santa Maria, Lisboa, Potugal; 6 Neonatology Division, Department of Pediatrics, Hospital de Santa Maria, Lisbon; Academic Department of Pediatrics, Faculty of Medicine, University of Lisbon, Lisbon. Portugal; 7 Serviço de Neonatologia, Departamento de Pediatria, Unidade Local Saúde Santa Maria, Lisboa; Clínica Universitária de Pediatria, Faculdade de Medicina da Universidade de Lisboa, Lisboa. Portugal
Mariana Ruivo, Filipa Carmo, Carolina Ferreira Gonçalves, Alexandra Andrade, Mariana Ferreira, Mónica Rebelo, André M. Graça, Alberto Berenguer
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Alberto Berenguer, Email not available
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.
