Article
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
Prenatal diagnosis - 1 Oct 2015
Hill Melissa, Twiss Philip, Verhoef Talitha I, Drury Suzanne, McKay Fiona, Mason Sarah, Jenkins Lucy, Morris Stephen, Chitty Lyn S
Abstract excerpt
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. Using uptake data from a study exploring views on NIPD for CF, total test-related costs were estimated for the...
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