Non-invasive Prenatal Diagnosis for Cystic Fibrosis: Detection of Paternal Mutations, Exploration of Patient Preferences and Cost Analysis

Overview

Journal Prenat Diagn

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 2015 Feb 25

PMID 25708280

Citations 23

Authors

Melissa Hill

Philip Twiss

Talitha I Verhoef

Suzanne Drury

Fiona McKay

Sarah Mason

Lucy Jenkins

Stephen Morris

Lyn S Chitty

Affiliations

Soon will be listed here.

Abstract

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 current care pathway and compared with those incorporating NIPD.

Results: The assay reliably predicted mutation status in all control and maternal plasma samples. Of carrier or affected adults with CF (n = 142) surveyed, only 43.5% reported willingness to have invasive testing for CF with 94.4% saying they would have NIPD. Using these potential uptake data, the incremental costs of NIPD over invasive testing per 100 pregnancies at risk of CF are £9025 for paternal mutation exclusion, and £26,510 for direct diagnosis.

Conclusions: We have developed NIPD for risk stratification in around a third of CF families. There are economic implications due to potential increased test demand to inform postnatal management rather than to inform decisions around termination of an affected pregnancy.

Citing Articles

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Byrou S, Brouwer R, Tomazou M, Tamana S, Kountouris P, Lederer C Int J Mol Sci. 2025; 26(2).

PMID: 39859286 PMC: 11765003. DOI: 10.3390/ijms26020570.

Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.

Hanson B, Paternoster B, Povarnitsyn N, Scotchman E, Chitty L, Chandler N Extracell Vesicles Circ Nucl Acids. 2024; 4(1):3-26.

PMID: 39698301 PMC: 11648410. DOI: 10.20517/evcna.2022.44.

Parental Somatic Mosaicism Detected During Prenatal Diagnosis.

Chandler N, Scotchman E, McKay F, Ramachandran V, Chitty L Prenat Diagn. 2024; 45(2):171-177.

PMID: 39586789 PMC: 11790521. DOI: 10.1002/pd.6712.

Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.

Anton-Paduraru D, Azoicai A, Trofin F, Mindru D, Murgu A, Bocec A Diagnostics (Basel). 2024; 14(7).

PMID: 38611676 PMC: 11012009. DOI: 10.3390/diagnostics14070763.

Non-invasive prenatal testing: a revolutionary journey in prenatal testing.

Abedalthagafi M, Bawazeer S, Fawaz R, Heritage A, Alajaji N, Faqeih E Front Med (Lausanne). 2023; 10:1265090.

PMID: 38020177 PMC: 10666054. DOI: 10.3389/fmed.2023.1265090.

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