基于人群的遗传载体筛选。来自西班牙协会的共识声明:AEGH, AEDP, ASEBIR, SEAGEN, SEF和SEGCD。

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Xavier Vendrell, Anna Abulí, Clara Serra, Juan José Guillén, Joaquín Rueda, Javier García-Planells, Fernando Santos-Simarro, Ramiro Quiroga, Fernando Abellán, Raluca Oancea-Ionescu, Encarna Guillén-Navarro
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引用次数: 0

摘要

常染色体隐性遗传或x连锁疾病通过孟德尔遗传模式从父母传给后代,并可能在儿童早期发育中导致严重的临床表现。西班牙人类遗传学协会(AEGH)、生殖生物学研究协会(ASEBIR)、西班牙遗传咨询协会(SEAGEN)、西班牙生育学会(SEF)、西班牙临床遗传学和畸形学学会(SEGCD)和西班牙产前诊断协会(AEDP)共同制定了基于人群的遗传载体筛查(GCS)的共识声明。所提交的意见声明建议将孕前GCS服务纳入公共保健系统,以支持夫妇的生殖自主和及时的医疗决策。程序设计和实施策略,以及关键的技术,道德和法律方面的考虑进行了讨论。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.

Autosomal recessive or X-linked disorders are passed from parents to offspring through Mendelian inheritance patterns and may lead to severe clinical manifestations in early childhood development. Together, the Spanish Association of Human Genetics (AEGH), Association for the Study of Reproductive Biology (ASEBIR), Spanish Association of Genetic Counselling (SEAGEN), Spanish Fertility Society (SEF), Spanish Society of Clinical Genetics and Dysmorphology (SEGCD), and the Spanish Association of Prenatal Diagnostics (AEDP) developed a consensus statement for population-based genetic carrier screening (GCS). The presented opinion statement recommends that preconception GCS services be included in the public healthcare system to support couples' reproductive autonomy and timely medical decision-making. Program design and implementation strategies, as well as key technical, ethical, and legal considerations are discussed.

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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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