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What is a 'serious' genetic condition? The perceptions of people living with genetic conditions.什么是“严重”的遗传疾病？患有遗传疾病人群的看法。
Eur J Hum Genet. 2022 Feb;30(2):160-169. doi: 10.1038/s41431-021-00962-2. Epub 2021 Sep 27.
2
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.全外显子测序在具有详细产前超声和产后表型的异常胎儿中的附加价值
Front Genet. 2021 Jul 22;12:627204. doi: 10.3389/fgene.2021.627204. eCollection 2021.
3
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.产前外显子组测序：背景、当前实践与未来展望——一项系统综述
Diagnostics (Basel). 2021 Feb 2;11(2):224. doi: 10.3390/diagnostics11020224.
4
What is the meaning of a 'genomic result' in the context of pregnancy?在妊娠的背景下，“基因组结果”是什么意思？
Eur J Hum Genet. 2021 Feb;29(2):225-230. doi: 10.1038/s41431-020-00722-8. Epub 2020 Sep 14.
5
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.深度表型化队列研究中致病性 ACMG 变异的外显率降低，以及对 ClinVar 分类随时间变化的评估。
Genet Med. 2020 Nov;22(11):1812-1820. doi: 10.1038/s41436-020-0900-8. Epub 2020 Jul 15.
6
Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing.打开潘多拉的盒子？：产前全基因组和外显子组测序的伦理问题。
Prenat Diagn. 2018 Jan;38(1):20-25. doi: 10.1002/pd.5114. Epub 2017 Aug 7.
7
Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.专业知识影响接受产前染色体微阵列检测阳性结果夫妇的决策制定。
Cult Med Psychiatry. 2017 Sep;41(3):382-406. doi: 10.1007/s11013-017-9521-3.
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
9
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.用于评估扩展携带者筛查面板的疾病严重程度系统分类
PLoS One. 2014 Dec 10;9(12):e114391. doi: 10.1371/journal.pone.0114391. eCollection 2014.
10
Ethical issues raised by whole genome sequencing.全基因组测序引发的伦理问题。
Best Pract Res Clin Gastroenterol. 2014 Apr;28(2):269-79. doi: 10.1016/j.bpg.2014.02.004. Epub 2014 Mar 12.

Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing.

作者信息

Boardman Felicity, Horn Ruth

机构信息

Warwick Medical School, Gibbet Hill Road, Coventry, CV4 7AL, UK.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

出版信息

Eur J Hum Genet. 2023 Feb;31(2):134-135. doi: 10.1038/s41431-022-01225-4. Epub 2022 Nov 7.

DOI:10.1038/s41431-022-01225-4
PMID:36336716
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9905600/
Abstract
摘要