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Impact of mosaicism ratio on positive predictive value of cfDNA screening

OBJECTIVE: To examine the relationship between the fraction of cell‐free DNA (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal screening specimen and its effect on positive predictive value (PPV). METHOD: CfDNA specimens positive for trisomy 13, 18, and 21 with diag...

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Detalles Bibliográficos
Autores principales: Rafalko, Jill M., Caldwell, Samantha, Tynan, John, Almasri, Eyad, Weinblatt, Vivian, McCullough, Ron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894494/
https://www.ncbi.nlm.nih.gov/pubmed/33151555
http://dx.doi.org/10.1002/pd.5863