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在国家筛查项目中实施无创产前检测:从TRIDENT研究中吸取的经验教训。

Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies.

作者信息

Skojo Matea, Srebniak Malgorzata I, Henneman Lidewij, Sistermans Erik A, van der Meij Karuna R M

机构信息

Department of Clinical Genetics, Erasmus University Medical Centre, 3015 GD, Rotterdam, the Netherlands.

Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB, Amsterdam, the Netherlands; Amsterdam Reproduction and Development Research Institute, 1007 MB, Amsterdam, the Netherlands.

出版信息

Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102543. doi: 10.1016/j.bpobgyn.2024.102543. Epub 2024 Sep 3.

Abstract

The Dutch NIPT Consortium, a multidisciplinary collaboration of stakeholders in prenatal care initiated and launched the TRIDENT studies. The goal of the TRIDENT studies was to implement non-invasive prenatal testing (NIPT), first as a contingent (second-tier) and later as a first-tier test, and to evaluate this implementation. This paper describes how NIPT can be successfully implemented in a country or state. Important factors include the significance of forming a consortium and encouraging cooperation among relevant stakeholders, appropriate training for obstetric care professionals, and taking into account the perspectives of pregnant women when implementing prenatal tests. We describe the advantages of high sensitivity and specificity when comparing contingent NIPT with first-tier NIPT. This paper emphasizes the value of pre- and post-test counselling and the requirement for a standardized method of information delivery and value clarification, to assist couples in decision making for prenatal screening.

摘要

荷兰无创产前检测联盟是一个由产前护理领域的利益相关者组成的多学科合作组织,发起并开展了“三叉戟”研究。“三叉戟”研究的目标是将无创产前检测(NIPT)首先作为一种应急(二线)检测,随后作为一线检测加以实施,并对这一实施过程进行评估。本文描述了如何在一个国家或州成功实施无创产前检测。重要因素包括组建联盟并鼓励相关利益相关者之间开展合作的重要性、为产科护理专业人员提供适当培训,以及在实施产前检测时考虑孕妇的观点。我们阐述了将应急无创产前检测与一线无创产前检测相比较时,高灵敏度和高特异性的优势。本文强调了检测前和检测后咨询的价值,以及对标准化信息传递和价值澄清方法的要求,以协助夫妇进行产前筛查决策。

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