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基于人群的基因携带者筛查。西班牙各学会的共识声明:AEGH、AEDP、ASEBIR、SEAGEN、SEF和SEGCD。

Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.

作者信息

Vendrell Xavier, Abulí Anna, Serra Clara, Guillén Juan José, Rueda Joaquín, García-Planells Javier, Santos-Simarro Fernando, Quiroga Ramiro, Abellán Fernando, Oancea-Ionescu Raluca, Guillén-Navarro Encarna

机构信息

Spanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain.

Association to the Study of Biology of Reproduction (ASEBIR), Cronos Street, 20, Building 4(1st), 6, 28037, Madrid, Spain.

出版信息

Eur J Hum Genet. 2025 Apr;33(4):402-412. doi: 10.1038/s41431-024-01751-3. Epub 2024 Dec 2.

Abstract

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.

摘要

常染色体隐性或X连锁疾病通过孟德尔遗传模式由父母传给后代,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)、西班牙生育协会(SEF)、西班牙临床遗传学与畸形学协会(SEGCD)以及西班牙产前诊断协会(AEDP)共同制定了一项基于人群的遗传携带者筛查(GCS)共识声明。本意见声明建议将孕前GCS服务纳入公共医疗体系,以支持夫妻的生殖自主权和及时的医疗决策。文中讨论了项目设计与实施策略,以及关键的技术、伦理和法律考量。

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