产前基因筛查决策：孕妇将如何应对日益增多的非整倍体和携带者筛查选择？
Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
机构信息
OB/GYN and Women's Health Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
出版信息
BMC Pregnancy Childbirth. 2021 Dec 4;21(1):806. doi: 10.1186/s12884-021-04282-7.
BACKGROUND
Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient's preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS.
METHODS
A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process.
RESULTS
Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions.
CONCLUSION
Patients' baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients' decision-making commensurate with advances in prenatal genomics.
背景
产前基因筛查，包括携带者筛查 (CS) 和非整倍体筛查 (AS)，是生殖保健服务的重要组成部分。临床实践指南强调了知情决策和患者对使用这些筛查的偏好的重要性。然而，目前尚不清楚如何实现这一理想，因为产前基因筛查选择变得越来越复杂，并且越来越多的患者可以获得。随着生殖测试选择的复杂性和可用性的增加，决策支持策略对于使患者准备好考虑 AS 和/或 CS 至关重要。
方法
一项自我管理的调查评估了对扩展携带者 (CS) 和非整倍体 (AS) 产前筛查的知识和决策偏好。该调查在参与者的第一次产前就诊前进行，以评估在开始产前保健时的决策需求和偏好的基线。分析方法是描述性的。
结果
参与者对 AS 相关概念的熟悉程度与 CS 相似；CS 的平均知识得分为 0.59 [可能范围为 0.00 至 1.00]，AS 为 0.55。参与者报告了对了解一系列疾病的偏好，包括那些具有严重或轻度影响、儿童期发病和成人期发病的疾病。与 AS 和 CS 面板相关的疾病表型的学习决策偏好随着面板的复杂性而变化，随着面板从 5 个条件增加到 100 个条件，与预测试教育相比，参与者更喜欢在测试后学习相关疾病。
结论
患者对产前基因筛查的基础知识，加上不断变化的决策偏好，为产前基因筛查的提供带来了挑战。这需要开发和实施创新方法，以支持孕妇的决策，与产前基因组学的进步相匹配。
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