Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool

The increasing popularity and expansion of non-invasive prenatal testing (NIPT) to screen for rare conditions beyond common trisomies prompts evaluation of pre-test counselling currently offered. We conducted a prospective survey to assess women’s knowledge of NIPT in those who had undergone NIPT (study group) and those who were planning to have NIPT (control group). Out of the 189 questionnaires analysed, the study group did not show a higher knowledge score compared to the control group (P = 0.097). 44% misunderstood that NIPT can identify more conditions than invasive testing, 69.8% were unaware of the recommended need for nuchal translucency measurement and 52.6% were unaware of the possibility of incidental findings. 31% even considered discussing termination of pregnancy as one of the next steps if NIPT shows high risk for Down syndrome. This study shows that current pre-test counselling is inadequate. Service providers should address these knowledge gaps and assist women to make informed choices.Impact Statement<b>What is already known on this subject?</b> Pre-test counselling for non-invasive prenatal testing (NIPT) should be conducted to assist women in making an informed consent.<b>What do the results of this study add?</b> Our results show that a significant proportion of women are unaware of the limitations of NIPT.<b>What are the implications of these findings for clinical practice and/or further research?</b> Service providers should improve their pre-test counselling focusing on areas of knowledge deficiencies and misunderstanding on NIPT identified in this study. <b>What is already known on this subject?</b> Pre-test counselling for non-invasive prenatal testing (NIPT) should be conducted to assist women in making an informed consent. <b>What do the results of this study add?</b> Our results show that a significant proportion of women are unaware of the limitations of NIPT. <b>What are the implications of these findings for clinical practice and/or further research?</b> Service providers should improve their pre-test counselling focusing on areas of knowledge deficiencies and misunderstanding on NIPT identified in this study.

随着无创产前基因检测（non-invasive prenatal testing, NIPT）的应用日益普及，且其筛查范围拓展至常见三体综合征之外的罕见病症，当前所提供的产前咨询服务亟需开展评估。本研究采用前瞻性调查方法，对比已接受NIPT的女性（研究组）与计划进行NIPT的女性（对照组）对NIPT的认知水平。在纳入分析的189份有效问卷中，研究组的认知得分并未显著高于对照组（P=0.097）。44%的受访者误以为NIPT可检出的病症多于侵入性产前检测，69.8%未获悉颈项透明层测量（nuchal translucency measurement）的推荐必要性，52.6%未意识到存在偶发检出结果的可能性，甚至有31%的女性认为，若NIPT提示唐氏综合征（Down syndrome）高风险，下一步应将终止妊娠作为可选方案之一。本研究证实当前的产前咨询服务存在不足，医疗服务提供者应针对性填补这些认知缺口，协助女性做出知情选择。研究影响声明<b>目前已知，针对无创产前基因检测（NIPT）应开展产前咨询，以协助女性获得知情同意。</b><b>本研究结果补充了哪些新知？</b> 本研究结果显示，相当比例的女性并不了解NIPT的局限性。<b>本研究结果对临床实践及/或后续研究有何启示？</b> 医疗服务提供者应针对本研究中明确的NIPT认知缺陷与误解点，优化产前咨询服务。<b>目前已知，针对无创产前基因检测（NIPT）应开展产前咨询，以协助女性获得知情同意。</b><b>本研究结果补充了哪些新知？</b> 本研究结果显示，相当比例的女性并不了解NIPT的局限性。<b>本研究结果对临床实践及/或后续研究有何启示？</b> 医疗服务提供者应针对本研究中明确的NIPT认知缺陷与误解点，优化产前咨询服务。