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了解对基于游离DNA的无创产前检测(NIPT)的态度和行为:一项针对欧洲医疗保健提供者的调查。

Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers.

作者信息

Benachi Alexandra, Caffrey Jessica, Calda Pavel, Carreras Elena, Jani Jacques C, Kilby Mark D, Klein Hanns-Georg, Rizzo Giuseppe, Yaron Yuval

机构信息

Service de Gynécologie-Obstétrique. AP-HP, Hôpital Antoine Béclère, Université Paris-Sud, Clamart, France.

The Link Group, Australia.

出版信息

Eur J Med Genet. 2020 Jan;63(1):103616. doi: 10.1016/j.ejmg.2019.01.006. Epub 2019 Jan 14.

Abstract

Cell-free DNA-based noninvasive prenatal testing (cfDNA) is a relatively new screening tool that analyzes cfDNA circulating in maternal plasma to screen for aneuploidies. Since its introduction, cfDNA has been rapidly adopted by health care providers (HCPs). This rapid adoption, as well as progressive developments in the technology, requires professional societies to continuously update their guidelines to indicate the broadening scope both in terms of test indications and patient populations for whom it has become the appropriate primary test. CfDNA testing, initially applied to high-risk patients, is now largely considered an option for all patients. For HCPs, the rapid introduction of cfDNA into clinical practice has come with the requirement to stay up-to-date and accurately informed. We performed a survey to understand the current practices and views of European HCPs on the use of cfDNA. European HCPs were surveyed on several topics such as familiarity with cfDNA-based noninvasive prenatal testing (NIPT), current usage, patient counseling, test menu expansion, and future perspectives. The results of this survey demonstrate increasing usage and awareness of cfDNA-based NIPT in five European countries (UK, France, Germany, Spain and Italy). Major barriers to implementation include cost and a lack of physician education on NIPT.

摘要

基于游离DNA的无创产前检测(cfDNA)是一种相对较新的筛查工具,它通过分析母体血浆中循环的cfDNA来筛查染色体非整倍体。自问世以来,cfDNA已被医疗保健提供者(HCPs)迅速采用。这种快速采用以及该技术的不断发展,要求专业协会持续更新其指南,以表明在检测适应症和适用该检测作为主要检测手段的患者群体方面,其适用范围正在不断扩大。CfDNA检测最初应用于高危患者,现在在很大程度上被视为所有患者的一种选择。对于HCPs而言,cfDNA迅速引入临床实践带来了紧跟最新情况并准确了解信息的要求。我们开展了一项调查,以了解欧洲HCPs对cfDNA使用的当前做法和看法。对欧洲HCPs就几个主题进行了调查,如对基于cfDNA的无创产前检测(NIPT)的熟悉程度、当前使用情况、患者咨询、检测项目扩展以及未来展望。这项调查的结果表明,在五个欧洲国家(英国、法国、德国、西班牙和意大利),基于cfDNA的NIPT的使用和认知度正在不断提高。实施的主要障碍包括成本以及医生对NIPT缺乏了解。

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