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黎巴嫩和魁北克的女性及其伴侣对扩大无创性产前检测范围的定性研究。

A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing.

机构信息

Institute for Health and Social Policy, McGill University, Montreal, Canada.

Medical Genetics, Department of Pediatrics, and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Canada.

出版信息

BMC Pregnancy Childbirth. 2021 Jan 13;21(1):54. doi: 10.1186/s12884-020-03538-y.

Abstract

BACKGROUND

In the near future, developments in non-invasive prenatal testing (NIPT) may offer couples the opportunity to expand the range of genetic conditions tested with this technology. This possibility raises a host of ethical and social concerns, such as the type of information (medical vs. non-medical information) that couples might be exposed to and how this might complicate their informed decision-making. Currently, only limited research, mainly carried out in western countries, was conducted on women's and partners' views regarding the potential expansion of NIPT.

METHODS

This study used semi-structured interviews with pregnant women and their partners to explore their views on future potential NIPT applications such as non-medical sex selection and non-medical traits, paternity testing, and NIPT use for fetal whole genome sequencing (FWGS). It was conducted in Lebanon and Quebec, as case studies to explore the impact of cultural differences on these views.

RESULTS

We found no differences and many similarities when comparing the perceptions of participants in both contexts. While couples in both settings disapproved of the use of NIPT for non-medical sex selection and non-medical traits such as physical characteristics, they were near-unanimous about their support for its use for paternity testing in specific cases, such as legal doubts or conflicts related to the identity of the father. Participants were more ambivalent about NIPT for Fetal Whole Genome Sequencing. They supported this use to detect conditions that would express at birth or early childhood, while objecting to testing for adult-onset conditions.

CONCLUSIONS

These results can further inform the debate on the future uses of NIPT and future policy related its implementation.

摘要

背景

在不久的将来,非侵入性产前检测(NIPT)的发展可能为夫妇提供机会,利用这项技术扩大可检测的遗传疾病范围。这种可能性引发了一系列伦理和社会问题,例如夫妇可能接触到的信息类型(医疗信息与非医疗信息),以及这可能如何使他们的知情决策复杂化。目前,仅对 NIPT 潜在扩展的妇女和伴侣的观点进行了有限的研究,主要在西方国家进行。

方法

本研究使用对孕妇及其伴侣的半结构式访谈,探讨他们对未来潜在 NIPT 应用的看法,如非医疗性别选择和非医疗特征、亲子鉴定以及 NIPT 用于胎儿全基因组测序(FWGS)。这项研究在黎巴嫩和魁北克进行,作为案例研究,以探讨文化差异对这些观点的影响。

结果

我们发现,在比较这两个背景下的参与者的看法时,没有差异,许多观点是相似的。尽管这两个地方的夫妇都反对将 NIPT 用于非医疗性别选择和非医疗特征(如身体特征),但他们几乎一致支持在特定情况下将其用于亲子鉴定,例如法律上的疑虑或与父亲身份有关的冲突。对于胎儿全基因组测序的 NIPT,参与者的态度更为矛盾。他们支持这种方法用于检测在出生或幼儿期就会表现出来的疾病,而反对检测成年发病的疾病。

结论

这些结果可以进一步为有关 NIPT 的未来用途和未来相关政策的辩论提供信息。

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Sequencing of Circulating Cell-free DNA during Pregnancy.孕期循环游离 DNA 测序。
N Engl J Med. 2018 Aug 2;379(5):464-473. doi: 10.1056/NEJMra1705345.
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Noninvasive prenatal testing to analyze the fetal genome.用于分析胎儿基因组的无创产前检测。
Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14173-14175. doi: 10.1073/pnas.1617112113. Epub 2016 Nov 30.

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