Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

OBJECTIVES: We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. METHODS: A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma...

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Detalhes bibliográficos
Publicado no:Prenat Diagn
Main Authors: Hill, Melissa, Twiss, Philip, Verhoef, Talitha I, Drury, Suzanne, McKay, Fiona, Mason, Sarah, Jenkins, Lucy, Morris, Stephen, Chitty, Lyn S
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4672687/
https://ncbi.nlm.nih.gov/pubmed/25708280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.4585
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