Work

Neonatal screening for critical congenital heart defects in a high prenatal detection region: Clinical performance and care pathways in the OXYNAT study

Year: 2026

Type: article

Abstract: Introduction Pulse oximetry (PO) is increasingly used for neonatal screening of critical congenital heart defects (CCHDs), but its added value in regions with high prenatal detection rates remains unclear. Objective To assess the diagnostic performance of PO alone and combined with clinical examination, and to evaluate post-screening care pathways in a large French regional network. Method The OXYNAT study is a population-based prospective cohort conducted in 28 maternity units in Nouvelle-Aquitaine (France) over 8 months (2018–2019). All asymptomatic newborns ≥ 35 weeks were screened by PO and/or clinical exam before discharge. CCHD cases were identified through an active multisource surveillance system and followed up for one year. Results Among 19,639 newborns included, PO screening alone showed a sensitivity of 52.9% and specificity of 97.8%. The combined strategy (PO + clinical examination) significantly improved sensitivity to 92.9%, with a specificity of 97.5%. Thirteen cases of CCHD were diagnosed; only 4 followed an optimal care pathway. Nine experienced delays due to incomplete clinical evaluations, misinterpretation of echocardiography, or underestimated symptoms. In some cases, associated conditions (e.g. anal atresia) masked cardiac signs and contributed to late diagnosis. Conclusion Even in regions with strong prenatal screening programs, neonatal PO screening remains valuable when combined with systematic clinical assessment. Our findings highlight the importance of timely clinical follow-up, pediatric echocardiographic expertise, and integrated referral pathways to avoid delayed care in infants with CCHDs.

Source: Archives of cardiovascular diseases

DOI: 10.1016/j.acvd.2025.10.267

Authors: J. Thomas, A. Benard, A.-C. Huby, J.-B. Thambo, P. Amédro

Institutions: Centre Hospitalier Universitaire de Bordeaux, Hôpital Pellegrin, Université de Bordeaux

Language: English

Topic: Congenital Heart Disease Studies

Subfield: Epidemiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,470