Theoretical Performance of Comprehensive Non‐Invasive Prenatal Screening in Congenital Heart Defects

Antenatal diagnostic testing remains the standard of care for fetal anomalies. Among individuals who decline diagnostic testing, our findings suggest that, in cases where a CHD has an underlying genetic cause, an optimal combination of currently available screening tests could theoretically identify up to 76% of genetic causes. However, actual performance will be lower in clinical practice.