Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.
作者信息
Rudnik-Schöneborn Sabine, Zerres Klaus
机构信息
Institute of Human Genetics, Medical University Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria.
Institute of Human Genetics and Genomic Medicine, RWTH Aachen University, Aachen, Germany.
出版信息
Med Genet. 2022 Aug 12;34(2):157-161. doi: 10.1515/medgen-2022-2123. eCollection 2022 Jun.
Abstract
摘要
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本文引用的文献
1
Newborn screening in Germany.德国的新生儿筛查。
Med Genet. 2022 May 7;34(1):1-2. doi: 10.1515/medgen-2022-2119. eCollection 2022 Apr.
2
Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.生殖遗传携带者筛查的伦理：从临床到人群
Public Health Ethics. 2021 Jun 14;14(2):202-217. doi: 10.1093/phe/phab017. eCollection 2021 Jul.
3
Reproductive carrier screening: responding to the eugenics critique.生殖载体筛查：回应优生学批判。
J Med Ethics. 2022 Dec;48(12):1060-1067. doi: 10.1136/medethics-2021-107343. Epub 2021 Jul 9.
4
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.由全科医生向荷兰普通人群中的夫妇提供基于伴侣的扩展携带者筛查：心理结果和生殖意向。
Genet Med. 2021 Sep;23(9):1761-1768. doi: 10.1038/s41436-021-01199-6. Epub 2021 Jun 10.
5
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.孕前扩展携带者筛查：文本或视频呈现信息对遗传知识和态度的影响。
J Genet Couns. 2021 Apr;30(2):457-469. doi: 10.1002/jgc4.1332. Epub 2020 Sep 17.
6
Expanded universal carrier screening and its implementation within a publicly funded healthcare service.扩大的通用携带者筛查及其在公共资助医疗服务体系中的实施
J Community Genet. 2020 Jan;11(1):21-38. doi: 10.1007/s12687-019-00443-6. Epub 2019 Dec 11.
7
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.估算产前携带者筛查的产量及其对扩展携带者筛查面板设计的影响。
Genet Med. 2019 Sep;21(9):1940-1947. doi: 10.1038/s41436-019-0472-7. Epub 2019 Mar 8.
8
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.176 种疾病扩展携带者筛查的临床影响和成本效益。
Genet Med. 2019 Sep;21(9):1948-1957. doi: 10.1038/s41436-019-0455-8. Epub 2019 Feb 14.
9
Feasibility of couple-based expanded carrier screening offered by general practitioners.由全科医生提供的基于夫妇的扩展携带者筛查的可行性。
Eur J Hum Genet. 2019 May;27(5):691-700. doi: 10.1038/s41431-019-0351-3. Epub 2019 Feb 11.
10
The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood.扩展普遍携带者筛查的目标：自主性、预防和负责任的育儿。
Bioethics. 2019 Jun;33(5):568-576. doi: 10.1111/bioe.12555. Epub 2019 Feb 7.
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