A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

INTRODUCTION: Non-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother’s bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5–1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to...

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Detalles Bibliográficos
Autores principales: Debrand, Emmanuel, Lykoudi, Alexandra, Bradshaw, Elizabeth, Allen, Stephanie K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641687/
https://www.ncbi.nlm.nih.gov/pubmed/26561302
http://dx.doi.org/10.1371/journal.pone.0142729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641687/
https://www.ncbi.nlm.nih.gov/pubmed/26561302
http://dx.doi.org/10.1371/journal.pone.0142729

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