半面阳光
(2024-07-31 23:48):
#paper DOI:https://doi.org/10.1016/j.gim.2024.101137, Genet Med, 2024, Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). 这是一篇ACMG最新发布的技术标准,用作实验室孕前/产前携带者筛查的技术参考。这篇技术标准是对2013年发布的关于常染色体隐性遗传和X-染色体连锁遗传的技术标准的更新和补充。在技术标准中,考虑了诸多因素,包括人群携带者频率、最佳panel大小和包含的基因,以及关于将携带者筛查分为 4 级的建议。本实验室技术标准确立了携带者筛查检测的设计和验证标准,定义了此类测试的范围和限制,制定了测试结果解释和报告的指南,并根据适用情况推荐适当的后续测试。但需要注意的是该技术标准并不作为临床实践指南使用。
IF:6.600Q1
Genetics in medicine : official journal of the American College of Medical Genetics,
2024-Jul.
DOI: 10.1016/j.gim.2024.101137
PMID: 38814327
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
翻译
孕前/产前携带者筛查的实验室检测:美国医学遗传学和基因组学学院 (ACMG) 的技术标准
Abstract:
Carrier screening has historically assessed a relatively small number of autosomal recessive and X-linked conditions selected based on frequency in a specific subpopulation and association with severe morbidity or mortality. Advances in genomic technologies enable simultaneous screening of individuals for several conditions. The American College of Medical Genetics and Genomics recently published a clinical practice resource that presents a framework when offering screening for autosomal recessive and X-linked conditions during pregnancy and preconception and recommends a tier-based approach when considering the number of conditions to screen for and their frequency within the US population in general. This laboratory technical standard aims to complement the practice resource and to put forth considerations for clinical laboratories and clinicians who offer preconception/prenatal carrier screening.
翻译
携带者筛查历来评估相对较少的常染色体隐性遗传病和 X 连锁病症,这些病症是根据特定亚群的发生率以及与严重发病率或死亡率的关联选择的。基因组技术的进步使得可以同时筛查个体的多种疾病。美国医学遗传学和基因组学学会(American College of Medical Genetics and Genomics)最近发布了一份临床实践资源,该资源在提供妊娠和孕前常染色体隐性遗传病和X连锁病症筛查时提供了一个框架,并在考虑要筛查的疾病数量及其在美国人群中的频率时,建议采用基于等级的方法。该实验室技术标准旨在补充实践资源,并为提供孕前/产前携带者筛查的临床实验室和临床医生提出注意事项。
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