Improving Early Detection of Critical Congenital Heart Disease in a High-Performing Prenatal Screening System: The OXYNAT Interventional Cohort Study
Abstract
BACKGROUND: Early detection of critical congenital heart disease (CHD) is essential to prevent cardiovascular collapse and improve neonatal outcomes. While prenatal screening has advanced significantly in high-income countries, postnatal detection remains a safety net, particularly for left-sided lesions. Although pulse oximetry (PO) screening has been evaluated in several settings with high prenatal detection rates, the added value of combining it with systematic paediatric examination, and its impact on care pathways remains incompletely characterised in such contexts. OBJECTIVE: To evaluate the diagnostic performance and care pathway impact of PO screening-alone and combined with routine paediatric examination-for detecting critical CHD in a high-performing regional prenatal screening system. METHODS: The OXYNAT study was a prospective, population-based interventional cohort in 28 maternity hospitals in Nouvelle-Aquitaine, France. 19 639 newborns were enrolled. PO was performed between 6 and 24 hours of life, followed by routine paediatric examination. Critical cases with CHD were identified through active multisource surveillance and followed for 1 year (supplemental file 1, visual abstra). RESULTS: Among the 14 infants diagnosed postnatally with a critical CHD, one death occurred in relation to delayed diagnosis of truncus arteriosus. PO alone yielded a sensitivity of 53.8% and specificity of 99.2% for detecting critical CHD. The combined strategy with paediatric examination improved sensitivity to 92.9% while maintaining high specificity (97.7%). However, only 4 of 14 infants postnatally followed an optimal care trajectory. Delays were mainly due to misinterpretation of early signs, incomplete echocardiographic assessment and coordination gaps. CONCLUSIONS: In a healthcare setting with high antenatal CHD detection, PO alone is insufficient. Integrating systematic paediatric examination significantly improves diagnostic performance. TRIAL REGISTRATION NUMBER: NCT03078218.
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BibTeX
@article{chabaneix2026improving,
title = {{Improving Early Detection of Critical Congenital Heart Disease in a High-Performing Prenatal Screening System: The OXYNAT Interventional Cohort Study}},
author = {Julie Chabaneix and Anne-Cecile Huby and Nathalie Terras and Sophie Cramaregas and Eric Dumas de La Roque and Loic Sentilhes and Xavier Iriart and Jean-Benoit Thambo and François Roubertie and Roxane Coueron and Antoine Benard and Pascal Amedro},
journal = {Archives of disease in childhood. Fetal and neonatal edition},
year = {2026},
month = oct,
doi = {10.1136/archdischild-2026-330602},
url = {https://hal.science/hal-05784425v1},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Improving Early Detection of Critical Congenital Heart Disease in a High-Performing Prenatal Screening System: The OXYNAT Interventional Cohort Study
AU - Julie Chabaneix
AU - Anne-Cecile Huby
AU - Nathalie Terras
AU - Sophie Cramaregas
AU - Eric Dumas de La Roque
AU - Loic Sentilhes
AU - Xavier Iriart
AU - Jean-Benoit Thambo
AU - François Roubertie
AU - Roxane Coueron
AU - Antoine Benard
AU - Pascal Amedro
PY - 2026
DA - 2026/10/07
JO - Archives of disease in childhood. Fetal and neonatal edition
DO - 10.1136/archdischild-2026-330602
UR - https://hal.science/hal-05784425v1
AB - BACKGROUND: Early detection of critical congenital heart disease (CHD) is essential to prevent cardiovascular collapse and improve neonatal outcomes. While prenatal screening has advanced significantly in high-income countries, postnatal detection remains a safety net, particularly for left-sided lesions. Although pulse oximetry (PO) screening has been evaluated in several settings with high prenatal detection rates, the added value of combining it with systematic paediatric examination, and its impact on care pathways remains incompletely characterised in such contexts. OBJECTIVE: To evaluate the diagnostic performance and care pathway impact of PO screening-alone and combined with routine paediatric examination-for detecting critical CHD in a high-performing regional prenatal screening system. METHODS: The OXYNAT study was a prospective, population-based interventional cohort in 28 maternity hospitals in Nouvelle-Aquitaine, France. 19 639 newborns were enrolled. PO was performed between 6 and 24 hours of life, followed by routine paediatric examination. Critical cases with CHD were identified through active multisource surveillance and followed for 1 year (supplemental file 1, visual abstra). RESULTS: Among the 14 infants diagnosed postnatally with a critical CHD, one death occurred in relation to delayed diagnosis of truncus arteriosus. PO alone yielded a sensitivity of 53.8% and specificity of 99.2% for detecting critical CHD. The combined strategy with paediatric examination improved sensitivity to 92.9% while maintaining high specificity (97.7%). However, only 4 of 14 infants postnatally followed an optimal care trajectory. Delays were mainly due to misinterpretation of early signs, incomplete echocardiographic assessment and coordination gaps. CONCLUSIONS: In a healthcare setting with high antenatal CHD detection, PO alone is insufficient. Integrating systematic paediatric examination significantly improves diagnostic performance. TRIAL REGISTRATION NUMBER: NCT03078218.
SN - 1359-2998
SN - 1468-2052
ER -