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Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

27 Sept 2023

Abstract excerpt

Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive prenatal testing (NIPT) for diagnosing monogenic disorders dependent on the mode of inheritance. Methods: Maternal blood samples were collected from women opting for prenatal diagnostics for...

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Share to Genomic variations and chromosomal abnormalities
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Share to Prenatal Screening and Diagnostics

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PMID: 37829280
DOI: 10.3389/fgene.2023.1188472

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