The clinical utility of genome-wide non invasive prenatal screening.
Francesco FiorentinoSara BonoFrancesca PizzutiSara DucaArianna PolverariMonica FaietaMarina BaldiLaura DianoFrancesca SpinellaPublished in: Prenatal diagnosis (2017)
Genome-wide cfDNA analysis represents an enhanced screening tool for prenatal detection of chromosomal abnormalities, allowing identification of clinically relevant imbalances that are not detectable by conventional cfDNA testing. The results of this study demonstrate the clinical utility of genome-wide cfDNA analysis. This level of screening provides a significant higher sensitivity compared to standard screening while maintaining a high specificity, with the potential to improve overall pregnancy management. © 2017 John Wiley & Sons, Ltd.