Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.

Monica FaietaRossella FalconeSara DucaElena CorsettiRiccardo GiannicoLaura GiganteLaura DianoGraziella CalugiFrancesca SpinellaFrancesca Pizzuti

Published in: Prenatal diagnosis (2024)

Integrating a standardized protocol with an internal algorithm allowed discordant results to be reduced, yielding high accuracy. Observed reliability in detecting genome-wide chromosomal conditions reinforced the expanded NIPT utility in clinical practice.

Keyphrases

clinical practice
genome wide
dna methylation
copy number
randomized controlled trial
pregnant women
machine learning
deep learning
neural network