What question did this study set out to answer?

The study aims to characterize genetic testing practices for congenital heart disease and identify markers linked to testing outcomes.

March 21, 2026European Journal of Preventive Cardiology

PO23 The genetic architecture of congenital heart disease: insights from a prenatal and neonatal population

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The study aims to characterize genetic testing practices for congenital heart disease and identify markers linked to testing outcomes.
Retrospective review of 312 newborns diagnosed with congenital heart disease
Assessment of genetic testing practices including array-comparative genomic hybridization and next-generation sequencing
Analysis of associations between extracardiac anomalies and genetic variant detection
58.7% of patients underwent genetic testing, revealing 21 aneuploidies, 30 pathogenic/likely pathogenic variants, and 13 variants of unknown significance
Extracardiac anomalies were significantly associated with the decision to perform genetic analysis and detection of pathogenic variants
Identification of pathogenic variants linked to longer intensive care stays and higher mortality rates

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Implication

Retrospective study identifies genetic testing impacts and predictors in congenital heart disease cases, indicating long-term implications for patients.

Cite This Study

Carvalho et al. (2026) studied this question.

synapsesocial.com/papers/69be37406e48c4981c676ca4 https://doi.org/10.1093/eurjpc/zwag115.026

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Implication

Retrospective study identifies genetic testing impacts and predictors in congenital heart disease cases, indicating long-term implications for patients.

PO23 The genetic architecture of congenital heart disease: insights from a prenatal and neonatal population

Key Points

Discussion

Implication

Cite This Study

PO23 The genetic architecture of congenital heart disease: insights from a prenatal and neonatal population

Key Points

Discussion

Implication

Cite This Study

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