Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Abstract Background Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of...

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Bibliographic Details
Main Authors: Patrik Smeds, Izabella Baranowska Körberg, Malin Melin, Claes Ladenvall
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-025-02086-8