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

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:
Non-invasive prenatal testing (NIPT)
Diagnostics
Cell-free DNA
Screening
Aneuploidy
Trisomy
Online Access:https://doi.org/10.1186/s12920-025-02086-8
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