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在高分辨率和低分辨率微阵列之间进行选择:孕妇是否具备足够的知识来做出与其态度相符的明智选择?

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

作者信息

van der Steen S L, Bunnik E M, Polak M G, Diderich K E M, Verhagen-Visser J, Govaerts L C P, Joosten M, Knapen M F C M, Go A T J I, Van Opstal D, Srebniak M I, Galjaard R J H, Tibben A, Riedijk S R

机构信息

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

Department of Medical Ethics & Philosophy of Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.

出版信息

J Genet Couns. 2018 Feb;27(1):85-94. doi: 10.1007/s10897-017-0124-5. Epub 2017 Jul 4.

Abstract

Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixty-two percent of the women made an adequately informed choice, based on sufficient knowledge and attitude-consistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitude-consistency and deliberation as compared to only a strong focus on knowledge.

摘要

产前检测技术的发展使得能够检测出更多的结果。产前诊断(PND)中的单核苷酸多态性(SNP)阵列可以以0.5兆碱基的分辨率进行分析,从而检测出更多临床上相关的异常情况,也可以以5兆碱基的分辨率进行分析。我们调查了女性是否具备足够的知识,以便就与其态度一致的产前检测范围做出明智的选择。孕妇可以在5兆碱基或0.5兆碱基阵列检测之间做出选择。同意参与的女性(N = 69)通过电话接受了检测前的遗传咨询,并填写了为本研究设计的知情选择量表问卷。基于充分知识且与态度一致的选择被视为知情选择。62%的女性基于充分的知识并与她们对微阵列分辨率的选择态度一致,做出了充分知情的选择。做出知情选择的女性更常选择0.5兆碱基阵列分辨率。在经历的焦虑或疑虑程度方面,做出充分知情选择和知情程度较低选择的女性之间没有差异。随着时间推移,在T0和T1时,焦虑和疑虑显著减少。虽然先前的研究表明知识是知情决策的一个重要组成部分,但本研究强调,一致的态度对于决策可能同样重要。与仅强烈关注知识相比,我们主张更多地关注态度一致性和深思熟虑。

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