Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray

BACKGROUND: Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for fetal CNVs, citing a need for additional performance data. A clinically availa...

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Detalles Bibliográficos
Autores principales: Soster, Erica, Tynan, John, Gibbons, Clare, Meschino, Wendy, Wardrop, Jenna, Almasri, Eyad, Schwartz, Stuart, McLennan, Graham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257834/
https://www.ncbi.nlm.nih.gov/pubmed/37301962
http://dx.doi.org/10.1186/s13039-023-00642-4

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