Patient preferences and understanding of genome-wide cell-free dna screening for foetal chromosomal imbalances: a survey study.

Abstract

Objective: To assess parental preferences, expectations and understanding of genome-wide cell-free DNA screening (gwNIPT) in Australia. Method(s): A cross-sectional survey study utilizing an anonymous electronic questionnaire was conducted across three participating screening services in Australia between September 2023 and November 2024. Questions pertained to respondent demographics, pre-screening counselling, and accuracy expectations of gwNIPT for various chromosomal anomalies. Statistical analyses to investigate associations between responses used Chi-squared and Fisher's exact tests, ordinal logistic regression, and the Kruskal-Wallis test. Result(s): There were 329 survey responses recorded, of which 216 were completed (65.7%). The most frequent source of NIPT referral was a medical doctor (74.1%), and the most common duration of pre-screening counselling was 5 minutes (41.0%). Respondents showed overwhelming interest in all anomalies included in gwNIPT as well as various phenotypic outcomes including those of uncertain clinical significance. Despite this, only a minority of patients were aware that they were undergoing genome-wide screening (38.2%), and respondents did not anticipate a statistically significant difference in screening accuracy across different anomaly types (p = 0.715). Conclusion(s): Respondents undergoing gwNIPT indicated a preference to receive as much genetic information about their pregnancies as possible. Pre-screening counselling should therefore include the limitations of gwNIPT.Copyright © 2025 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.