Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

IF 6.6 1区 医学 Q1 GENETICS & HEREDITY
Saurav Guha , Honey V. Reddi , Mahmoud Aarabi , Marina DiStefano , Erin Wakeling , Jeffrey S. Dungan , Anthony R. Gregg , ACMG Laboratory Quality Assurance Committee
{"title":"Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)","authors":"Saurav Guha ,&nbsp;Honey V. Reddi ,&nbsp;Mahmoud Aarabi ,&nbsp;Marina DiStefano ,&nbsp;Erin Wakeling ,&nbsp;Jeffrey S. Dungan ,&nbsp;Anthony R. Gregg ,&nbsp;ACMG Laboratory Quality Assurance Committee","doi":"10.1016/j.gim.2024.101137","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 7","pages":"Article 101137"},"PeriodicalIF":6.6000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1098360024000704/pdfft?md5=e2ddd184677a26ba495702091fc3037f&pid=1-s2.0-S1098360024000704-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1098360024000704","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

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.

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。
携带者筛查历来是对相对较少的常染色体隐性遗传病和 X 连锁遗传病进行评估,这些遗传病是根据其在特定亚人群中的发生频率以及与严重发病率或死亡率的相关性选出的。基因组技术的进步使人们能够同时筛查多种疾病。美国医学遗传学和基因组学学院最近发布了一份临床实践资料,为孕期和孕前常染色体隐性遗传病和 X 连锁遗传病的筛查提供了一个框架,并建议在考虑筛查病症的数量及其在美国总人口中的频率时采用分层筛查的方法。本实验室技术标准旨在对实践资源进行补充,并为临床实验室和提供孕前/产前携带者筛查的临床医生提出注意事项。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Genetics in Medicine
Genetics in Medicine 医学-遗传学
CiteScore
15.20
自引率
6.80%
发文量
857
审稿时长
1.3 weeks
期刊介绍: Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信