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模糊的界限。对接受胚胎植入前遗传学检测的夫妇进行的关于全面染色体筛查的访谈。

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.

作者信息

Hens Kristien, Bonduelle Maryse, de Die-Smulders Christine, Liebaers Inge

机构信息

University of Antwerp, Department of Philosophy, Rodestraat 14, 2000, Antwerp, Belgium.

UZ Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090, Brussel, Belgium.

出版信息

Eur J Med Genet. 2019 Dec;62(12):103604. doi: 10.1016/j.ejmg.2018.12.009. Epub 2018 Dec 17.

DOI:10.1016/j.ejmg.2018.12.009
PMID:30572173
Abstract

OBJECTIVE

Comprehensive chromosome examination is a promising approach to Preimplantation Genetic Testing (PGT). Next to testing of specific chromosomes, such as in the case of reduced fertility due to chromosomal translocations, it allows testing of all chromosomes. Hence it potentially reduces the time to pregnancy and the risk of miscarriage. But comprehensive testing also introduces some ethical issues. For example, what is the role of the professional in the decision making regarding embryos with chromosomal abnormalities that are potentially viable? Which chromosomal abnormalities should be communicated to people undergoing fertility treatment? With this paper we wanted to explore the ethical issues related to comprehensive chromosome screening in Preimplantation Genetic Testing.

DESIGN

In order to explore these issues, we interviewed seven couples undergoing PGT for chromosomal translocations at the VUB University Hospital, Belgium. We presented them with three fictional cases: the transfer of an embryo with trisomy 21, of an embryo with a sex chromosome aneuploidy and of an embryo with a chromosomal microdeletion.

RESULTS

We found that opinions regarding the role of fertility professionals in deciding which embryos to transfer were mixed. Moreover, where to draw the line between healthy and unhealthy embryos was unclear. We also found that couples, although they thought that comprehensive chromosome testing had certain benefits, also considered the increased waiting time for transfer a heavy burden.

CONCLUSIONS

In the light of comprehensive chromosome screening of embryos, persons undergoing fertility treatment may have views on the burdens and benefits of the techniques that are not analogous to the views of professionals.

摘要

目的

全面染色体检查是植入前基因检测(PGT)中一种很有前景的方法。除了检测特定染色体,比如因染色体易位导致生育力下降的情况,它还能检测所有染色体。因此,它有可能缩短受孕时间并降低流产风险。但全面检测也引发了一些伦理问题。例如,专业人员在关于具有潜在存活能力的染色体异常胚胎的决策中应扮演什么角色?哪些染色体异常情况应告知接受生育治疗的人?通过本文,我们想要探讨植入前基因检测中与全面染色体筛查相关的伦理问题。

设计

为了探讨这些问题,我们对比利时鲁汶大学医院正在接受因染色体易位进行PGT的七对夫妇进行了访谈。我们向他们展示了三个虚构案例:一个21三体胚胎的移植、一个性染色体非整倍体胚胎的移植以及一个染色体微缺失胚胎的移植。

结果

我们发现,对于生育专业人员在决定移植哪些胚胎方面的作用,人们看法不一。此外,健康胚胎与不健康胚胎之间的界限也不明确。我们还发现,夫妇们虽然认为全面染色体检测有一定益处,但也认为移植等待时间的增加是一个沉重负担。

结论

鉴于对胚胎进行全面染色体筛查,接受生育治疗的人对于这些技术的负担和益处可能有与专业人员不同的看法。

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