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在产前遗传咨询中提供 NIPT 和侵袭性 PND 之间的选择:临床医生特征对患者检测接受度的影响。

Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptake.

机构信息

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

Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, The Netherlands.

出版信息

Eur J Hum Genet. 2019 Feb;27(2):235-243. doi: 10.1038/s41431-018-0287-z. Epub 2018 Oct 8.

DOI:10.1038/s41431-018-0287-z
PMID:30297905
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6336774/
Abstract

Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). Clinicians are challenged to comprehensively discuss the complex information in a patient-centered and non-directive manner, to allow for patients' informed decision-making. This study explored the information-centeredness, patient-centeredness, and level of non-directivity of different clinicians and examined group differences between their patients. First, semi-structured interviews with four senior obstetricians and one senior nurse were held regarding their information provision, their adaptation of a patient-centered attitude, and their practice of non-directivity. Interviews were transcribed verbatim and rated by four independent researchers. Secondly, 181 pregnant women were included in the study, of whom 82% opted for NIPT and 18% chose PND. Between clinicians, we assessed the distribution of choice ratios, patients' impression of clinicians' test preferences, and patients' knowledge scores. The results indicate that clinicians do not differ in their information-centeredness, but do differ in their patient-centeredness and their level of non-directivity. Significant differences in patients' NIPT/PND ratios were observed between clinicians, with the largest difference being 35 vs. 4% opting for invasive PND. Between 9 and 22% of the patients had an impression of their clinician's preference and chose in accordance with this preference. Patients' overall knowledge scores did not differ across clinicians. In conclusion, the differences in NIPT/PND ratios between clinicians indicate that clinicians' differing counseling approaches affect the choices their patients make. The interviews indicate a possible framing effect which may unintentionally steer the decision-making process.

摘要

对于有常见非整倍体风险的孕妇,检测方法包括无创性产前检测(NIPT)和有创性产前诊断(PND)。临床医生面临的挑战是,以患者为中心、非直接的方式全面讨论复杂的信息,以实现患者知情决策。本研究探讨了不同临床医生信息提供的中心性、以患者为中心和非直接性程度,并检查了他们的患者之间的群体差异。首先,对四位资深产科医生和一位资深护士进行了半结构化访谈,内容涉及他们的信息提供、以患者为中心的态度调整以及非直接性实践。访谈逐字转录,并由四位独立研究人员进行评分。其次,研究纳入了 181 名孕妇,其中 82%选择了 NIPT,18%选择了 PND。在临床医生之间,我们评估了选择比的分布、患者对临床医生测试偏好的印象以及患者的知识得分。结果表明,临床医生在信息提供的中心性方面没有差异,但在以患者为中心和非直接性程度方面存在差异。我们观察到临床医生之间的患者 NIPT/PND 比存在显著差异,最大差异为 35%选择有创性 PND 与 4%选择有创性 PND。9%至 22%的患者对他们的临床医生的偏好有印象,并根据这种偏好做出选择。不同临床医生的患者总体知识得分没有差异。总之,临床医生之间 NIPT/PND 比的差异表明,临床医生不同的咨询方法影响了他们的患者做出的选择。访谈表明可能存在框架效应,这可能会无意中影响决策过程。

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本文引用的文献

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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.荷兰实验室对无创产前检测进行评估的试验。第一部分——临床影响。
Prenat Diagn. 2016 Dec;36(12):1083-1090. doi: 10.1002/pd.4945. Epub 2016 Nov 15.
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Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.基于2015年的视角:使用游离DNA进行无创产前检测的推荐检测前咨询要点
Prenat Diagn. 2015 Oct;35(10):968-71. doi: 10.1002/pd.4666. Epub 2015 Sep 3.
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The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.产前检测中用基因组SNP阵列分析取代传统核型分析的心理挑战。
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J Community Genet. 2013 Jan;4(1):125-35. doi: 10.1007/s12687-012-0126-9. Epub 2012 Nov 9.
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