开辟无创产前筛查扩大使用的道路:医疗保健提供者的观点。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-06 DOI:10.1002/pd.6738
Tierry M Laforce, Anne-Marie Laberge, Marie-Françoise Malo, Vardit Ravitsky
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引用次数: 0

摘要

目的:无创产前筛查(NIPS)技术的进步可以通过扩大筛查遗传病的范围来显著改变产前筛查。本研究旨在探讨医疗保健专业人员(HCP)对NIPS扩大使用的观点,并探讨纳入遗传条件的规范。方法:采用半结构化访谈法,对加拿大为孕妇提供NIPS咨询服务的医护人员进行访谈。这些发现是围绕卡特-柯伊伯框架的四个伦理支柱进行组织的:比例性(利益和危害)、筛选的目的、正义和社会方面。结果:参与者选择使用一般术语来描述附加条件而不是讨论要添加的特定条件来评估NIPS的比例性。他们强调临床有效性的重要性,这对于扩展NIPS和确保其效用至关重要。与会者认为,NIPS的目的是提高生殖自主权,因此,对晚发性疾病的筛查可能会在父母和未来孩子之间造成伦理紧张。与会者还担心NIPS的扩大使用可能会影响hcp提供的咨询的质量,并影响自主性。司法方面的考虑包括将资源分配给产前护理,而不是其他保健领域。社会方面强调了卫生保健提供者用来描述可能严重影响未来儿童健康的“限制生命的条件”的不同定义。结论:随着NIPS的广泛使用,临床有效性会因不同的筛查条件而有所不同。每个条件的特异性会影响同意的质量。HCP估计,在NIPS中加入遗传条件时,应考虑临床有效性、临床效用、咨询的可得性、资源的可得性和社会影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Blazing the Trail of Non-Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives.

Objective: Advancements in non-invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions.

Method: Semi-structured interviews were conducted with Canadian HCPs who counsel pregnant individuals about NIPS. The findings were organized around the four ethical pillars of Kater-Kuiper's framework: proportionality (benefits and harms), aim of screening, justice, and societal aspects.

Results: Participants chose to assess the proportionality of NIPS using general terms to describe the additional conditions rather than discussing specific conditions to add. They emphasized the importance of clinical validity as crucial for expanding NIPS and ensuring its utility. Participants believed that the aim of NIPS is to enhance reproductive autonomy, and therefore that screening for late-onset conditions could create ethical tensions between parents and the prospective children. Participants also worried that expanded use of NIPS could impact the quality of counselling provided by HCPs and affect autonomy. Justice considerations include the allocation of resources in prenatal care instead of other areas of healthcare. Societal aspects highlighted the different definitions HCPs used to describe 'life-limiting conditions' that could severely affect the future child's health.

Conclusion: With expanded use of NIPS, clinical validity will vary for each screened condition. Specificity for each condition will influence the quality of consent. HCP estimates that clinical validity, clinical utility, availability of counselling, availability of resources, and societal impacts should be considered when adding genetic conditions to NIPS.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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