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Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2020-08-04 , DOI: 10.1038/s41436-020-0918-y
Misty Pratt 1 , Chantelle Garritty 2 , Micere Thuku 2 , Leila Esmaeilisaraji 2 , Candyce Hamel 2 , Taila Hartley 1 , Kathryn Millar 3 , Becky Skidmore 4 , Shelley Dougan 3 , Christine M Armour 1, 3, 5
Affiliation  

Genetic diagnosis provides important information for prenatal decision-making and management. Promising results from exome sequencing (ES) for genetic diagnosis in fetuses with structural anomalies are emerging. The objective of this scoping review was to identify what is known about the use of ES for genetic testing in prenatal cases with known or suspected genetic disease. A rapid scoping review was conducted over a six-week timeframe of English-language peer-reviewed studies. Search strategies for major databases (e.g., Medline) and gray literature were developed, and peer reviewed by information specialists. Identified studies were categorized and charted using tables and diagrams. Twenty-four publications were included from seven countries published between 2014 and 2019. Most commonly reported outcomes were diagnostic yields, which varied widely from 5% to 57%, and prenatal phenotype. Few studies reported clinical outcomes related to impact, decision-making, and clinical utility. Qualitative studies (n = 6) provided useful insights into patient and health-care provider experiences with ES. Findings suggest prenatal ES is beneficial, but more research is needed to better understand the clinical utility, circumstances for ideal use, feasibility, and costs of offering rapid ES as a routine option for prenatal genetic testing.



中文翻译:

外显子组测序在产前诊断中的应用:快速范围审查。

基因诊断为产前决策和管理提供重要信息。用于结构异常胎儿基因诊断的外显子组测序 (ES) 取得了可喜的结果。该范围审查的目的是确定在已知或疑似遗传疾病的产前病例中使用 ES 进行基因检测的已知情况。在为期六周的英语同行评审研究中进行了快速范围审查。主要数据库(例如,Medline)和灰色文献的搜索策略已经制定,并由信息专家进行同行评审。使用表格和图表对已确定的研究进行分类和图表化。包括 2014 年至 2019 年间发表的来自 7 个国家的 24 篇出版物。最常报告的结果是诊断率,差异很大,从 5% 到 57%,以及产前表型。很少有研究报告与影响、决策制定和临床效用相关的临床结果。定性研究(n  = 6) 为患者和医疗保健提供者的 ES 体验提供了有用的见解。研究结果表明产前 ES 是有益的,但需要更多的研究来更好地了解临床效用、理想使用的环境、可行性和提供快速 ES 作为产前基因检测常规选择的成本。

更新日期:2020-08-04
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