Raymond Yvette, Fernando Shavi, Mol Ben W, Menezes Melody, McLennan Andrew, Meagher Simon, Hill Amy, Rolnik Daniel L
Department of Obstetrics and Gynecology, Monash University, Clayton, Australia.
Monash Women's, Monash Health, Clayton, Australia.
Prenat Diagn. 2025 Jul;45(8):994-1003. doi: 10.1002/pd.6842. Epub 2025 Jun 19.
To assess parental preferences, expectations and understanding of genome-wide cell-free DNA screening (gwNIPT) in Australia.
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.
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).
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.
评估澳大利亚父母对全基因组游离DNA筛查（gwNIPT）的偏好、期望和理解。
2023年9月至2024年11月期间，在澳大利亚的三家参与筛查服务机构开展了一项横断面调查研究，采用匿名电子问卷。问题涉及受访者人口统计学信息、筛查前咨询以及对gwNIPT针对各种染色体异常的准确性期望。使用卡方检验、费舍尔精确检验、有序逻辑回归和克鲁斯卡尔-沃利斯检验对调查结果之间的关联进行统计分析。
共记录了329份调查问卷回复，其中216份填写完整（65.7%）。NIPT转诊的最常见来源是医生（74.1%），筛查前咨询的最常见时长为5分钟（41.0%）。受访者对gwNIPT涵盖的所有异常以及各种表型结果（包括临床意义不确定的结果）表现出极大兴趣。尽管如此，只有少数患者意识到他们正在接受全基因组筛查（38.2%），且受访者预计不同异常类型的筛查准确性在统计学上无显著差异（p = 0.715）。
接受gwNIPT的受访者表示倾向于获取尽可能多的关于其妊娠的遗传信息。因此，筛查前咨询应包括gwNIPT的局限性。
