基因携带者筛查的发展前景:临床考虑和挑战。

IF 4.3 4区 医学 Q1 OBSTETRICS & GYNECOLOGY Obstetrical & Gynecological Survey Pub Date : 2023-08-01 DOI:10.1097/OGX.0000000000001168
Lauren E Buckley, Maeve K Hopkins, Jeffrey A Kuller
{"title":"基因携带者筛查的发展前景:临床考虑和挑战。","authors":"Lauren E Buckley,&nbsp;Maeve K Hopkins,&nbsp;Jeffrey A Kuller","doi":"10.1097/OGX.0000000000001168","DOIUrl":null,"url":null,"abstract":"<p><strong>Importance: </strong>Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.</p><p><strong>Objective: </strong>This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.</p><p><strong>Evidence acquisition: </strong>Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.</p><p><strong>Results: </strong>Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.</p><p><strong>Conclusions and relevance: </strong>Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges.\",\"authors\":\"Lauren E Buckley,&nbsp;Maeve K Hopkins,&nbsp;Jeffrey A Kuller\",\"doi\":\"10.1097/OGX.0000000000001168\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Importance: </strong>Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.</p><p><strong>Objective: </strong>This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.</p><p><strong>Evidence acquisition: </strong>Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.</p><p><strong>Results: </strong>Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.</p><p><strong>Conclusions and relevance: </strong>Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.</p>\",\"PeriodicalId\":19409,\"journal\":{\"name\":\"Obstetrical & Gynecological Survey\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2023-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrical & Gynecological Survey\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/OGX.0000000000001168\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrical & Gynecological Survey","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/OGX.0000000000001168","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

重要性:基因携带者筛查用于鉴定罕见遗传病的携带者。确定携带者可使患者作出知情的生殖健康选择,并可减少具有严重医疗影响的遗传疾病的发生率。目的:本文综述了产前遗传筛查的历史和各种形式的携带者筛查,概述了社会建议和现行实践指南的最新变化,并讨论了与携带者筛查相关的临床挑战。证据获取:审查和综合相关专业协会出版的实践指南。PubMed检索携带者筛查的相关病史和临床考虑。结果:本综述总结的信息和证据包括专业学会实践指南、综述文章和同行评议的研究文章。结论和相关性:当前的实践指南在利益相关者专业组织之间有所不同。扩大携带者筛查提供了更多的罕见疾病携带者的识别,允许更知情的生殖选择。然而,在所有患者中实施扩大的携带者筛查存在一些障碍。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges.

Importance: Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.

Objective: This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.

Evidence acquisition: Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.

Results: Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.

Conclusions and relevance: Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
2.70
自引率
3.20%
发文量
245
审稿时长
>12 weeks
期刊介绍: ​Each monthly issue of Obstetrical & Gynecological Survey presents summaries of the most timely and clinically relevant research being published worldwide. These concise, easy-to-read summaries provide expert insight into how to apply the latest research to patient care. The accompanying editorial commentary puts the studies into perspective and supplies authoritative guidance. The result is a valuable, time-saving resource for busy clinicians.
期刊最新文献
Diagnosis and Management of Preterm Prelabor Rupture of Membranes: A Comprehensive Review of Major Guidelines. Familial Mediterranean Fever in Pregnancy. Implications of Prenatal Cannabis Exposure on Childhood Neurodevelopmental Outcomes: A Summary of the Clinical Evidence. Provider Guidance for the Prevention of Respiratory Syncytial Virus in Infants: Maternal Vaccination Versus Infant Monoclonal Antibody Treatment. Therapeutic Rest as an Intervention in Early Labor: A Literature Review.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1