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

• DOI: 10.1002/pd.4585
• Publication Date: 2015-02-24T06:03:02Z
• Authors: Melissa Hill; Philip Twiss; Talitha I. Verhoef; Suzanne Drury; Fiona McKay; Sarah Mason; Lucy Jenkins; Stephen Morris; Lyn S. Chitty
• Keywords: Cell-free fetal DNA

Abstract Objectives We aim to develop non‐invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs implications implementation. Methods A next‐generation sequencing assay was developed detect ten common CF mutations exclusion of the paternal mutation in maternal plasma. Using uptake data from a study exploring views on NIPD CF, total test‐related were estimated current care pathway compared with those incorporating NIPD. Results The reliably predicted status all control plasma samples. Of carrier or affected adults ( n = 142) surveyed, only 43.5% reported willingness have invasive testing 94.4% saying they would these potential data, incremental over per 100 pregnancies at risk are £9025 exclusion, £26 510 direct diagnosis. Conclusions stratification around third families. There economic due increased test demand inform postnatal management rather than decisions termination an pregnancy. © 2015 Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.