产前基因组检测的伦理考虑因素

IF 3.9 2区 医学 Q1 OBSTETRICS & GYNECOLOGY Best Practice & Research Clinical Obstetrics & Gynaecology Pub Date : 2024-09-07 DOI:10.1016/j.bpobgyn.2024.102548
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引用次数: 0

摘要

本文讨论了产前基因组检测中出现的伦理问题。虽然产前基因组信息可能会增加生育选择,例如更好地了解筛查中发现的表型,但随着筛查范围的不断扩大,即使在没有怀疑异常的情况下,也会产生越来越复杂和不确定的信息。这就提出了在检测前应提供多少信息和哪些信息,以及检测后应返回哪些信息(向谁返回)的问题。随着产前基因组检测范围的扩大和常规化,所产生的信息将不仅对胎儿,而且对父母、兄弟姐妹和更广泛的家庭产生更多的影响,这就提出了专业人员的责任问题。本文讨论的其他挑战包括基因组检测的获取和司法,以及持续管理和孕后随访。本文强调了考虑产前基因组检测中出现的特殊困难的重要性:在做出二元选择(继续妊娠或终止妊娠)时信息的不确定性;由于终止妊娠的法定限制而造成的时间压力;以及胎儿检测对妇女身体和生活的影响。
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Ethical considerations in prenatal genomic testing

This paper discusses ethical issues arising in the context of prenatal genomic testing. While genomic information in the prenatal context might increase reproductive choice, e.g. to better understand a phenotype detected during screening, the availability of ever broader screens, even in the absence of a suspicion of abnormality, will generate increasingly complex and uncertain information. This raises questions of how much and what information should be provided prior to testing and what information should be returned (and to whom) once testing has been performed. As prenatal genomic testing becomes broader and more routine, the information generated will have more often implications not only for the fetus, but also for the parents, siblings and the wider family, raising questions about professionals' responsibilities. Further challenges discussed in this paper include access to genomic testing and justice, as well as ongoing management and post-pregnancy follow-up. The paper highlights the importance of taking into account the particular difficulties that arise in the context of prenatal genomic testing: the uncertainty of the information while choices are binary (to continue with or to terminate pregnancy); the time pressure due to the statutory limits on the availability of termination; and the impact the testing of the fetus has on the woman's body and life.

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来源期刊
CiteScore
9.40
自引率
1.80%
发文量
113
审稿时长
54 days
期刊介绍: In practical paperback format, each 200 page topic-based issue of Best Practice & Research Clinical Obstetrics & Gynaecology will provide a comprehensive review of current clinical practice and thinking within the specialties of obstetrics and gynaecology. All chapters take the form of practical, evidence-based reviews that seek to address key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. Management will be described in practical terms so that it can be applied to the individual patient.
期刊最新文献
Post pregnancy family planning in Latin America and the Caribbean analysis and strengths in training on immediate contraception post obstetric event by CLAP/PAHO Fetal therapies – (Stem cell transplantation; enzyme replacement therapy; in utero genetic therapies) Ethical considerations in prenatal genomic testing Prenatal detection of copy number variants Impact of prenatal genomics on clinical genetics practice
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