Cell‐free DNA results lead to unexpected diagnosis

Maternal cell‐free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a “saw‐tooth” pattern characteristic of genome‐wide imbalance, maternal malignancy is suggested. Identifying the ma...

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Detalles Bibliográficos
Autores principales: Smith, Jessica, Kean, Victoria, Bianchi, Diana W., Feldman, Gerald, Petrucelli, Nancie, Simon, Michael, Gonik, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538058/
https://www.ncbi.nlm.nih.gov/pubmed/28781851
http://dx.doi.org/10.1002/ccr3.1051
Descripción
Sumario:Maternal cell‐free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a “saw‐tooth” pattern characteristic of genome‐wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.

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