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非侵入性产前查:测试低风险人群的动机和决策

Jenna K Lea^1,2, Blair K Stevens^1,3, Shannon Mulligan^1,3

¹UT MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas, USA.

Journal of genetic counseling

|May 23, 2024

概括

许多低风险的孕妇对无细胞DNA (cfDNA) 查做出了不知情的决定. 知情选择与避免侵入性手术相关,而不是胎儿性别的披露.

科学领域:

遗传学是一个遗传学.
孕产妇和胎儿医学孕产妇和胎儿医学
产前诊断在产前诊断

背景情况:

使用无细胞DNA (cfDNA) 的非侵入性产前查评估了质积分风险.
建议对所有孕妇进行查,不论先验风险如何.
低风险人群可能对cfDNA查的动机和决策水平有所不同.

研究的目的:

在低风险患者中描述cfDNA查的动机.
为了确定cfDNA查的知情决策的频率.
为了比较知情和不知情的决策者之间的动机.

主要方法:

一项调查,包括修改的知情选择措施 (MMIC) 和动机问题.
从四个母胎医学 (MFM) 诊所的100名参与者中收集的数据.遗传咨询后.
统计分析用于比较决策和动机.

主要成果:

44%的参与者对cfDNA查做出了不知情的决定.
知情决策与私人保险相关 (OR 4.25).
有信息的决策者优先避免侵入性手术,并不重视家庭/朋友的愿望;胎儿性别披露是12%的优先事项,但与不知情的决策无关.

结论:

低风险人群表现出与高风险人群相似的动机,强调需要为所有人提供全面的测试前咨询.
诸如社会经济地位之类的因素可能会影响知情选择,需要进一步调查.
评估定义知情选择的参数对于改善产前查实践至关重要.

关键词:

形积分症查检查没有细胞的DNA查 (cfDNA查)决策是做出决策的过程.低风险的低风险的非侵入性的产前查.在产前产前产前.

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