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产前基因护理:对过去、现在和未来的争论与思考。

Prenatal genetic care: debates and considerations of the past, present and future.

作者信息

Faas Brigitte H W

机构信息

Radboud University Medical Center, Department of Human Genetics , Nijmegen, PO Box 9101, The Netherlands +31 24 3613977 ;

出版信息

Expert Opin Biol Ther. 2015;15(8):1101-5. doi: 10.1517/14712598.2015.1045873. Epub 2015 May 10.

DOI:10.1517/14712598.2015.1045873
PMID:25959656
Abstract

After karyotyping invasively obtained fetal material for decades, the field of prenatal genetic care has changed tremendously since the turn of the century. The introduction of novel technologies and strategies went along with concerns and debates, in which key issues were costs, the finding of variants of unknown or uncertain clinical relevance, commercialization and ethical and social issues. At present, there is an explosion of new genomic technologies, which need critical assessment prior to implementation, especially in the prenatal field. The key issues of the debates we had in the past will again play a major role in guiding us toward careful implementation of these new techniques in future.

摘要

在对通过侵入性手段获取的胎儿材料进行了数十年的核型分析之后,自世纪之交以来,产前遗传护理领域发生了巨大变化。新技术和策略的引入伴随着各种担忧和争论,其中关键问题包括成本、发现临床意义未知或不确定的变异、商业化以及伦理和社会问题。目前,新的基因组技术呈爆炸式增长,在实施之前需要进行严格评估,尤其是在产前领域。我们过去争论的关键问题将再次在指导我们未来谨慎实施这些新技术方面发挥重要作用。

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引用本文的文献

1
The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial.决策辅助工具在无创产前检测时代对知情决策的影响:一项随机对照试验。
Eur J Hum Genet. 2016 Oct;24(10):1409-16. doi: 10.1038/ejhg.2016.39. Epub 2016 May 18.
2
"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.5号染色体上的额外发现:父母对产前染色体微阵列分析(CMA)阳性结果的理解
J Genet Couns. 2016 Oct;25(5):1116-26. doi: 10.1007/s10897-016-9943-z. Epub 2016 Mar 4.