Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Knowledge Synthesis Group, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Genet Med. 2020 Dec;22(12):1925-1934. doi: 10.1038/s41436-020-0918-y. Epub 2020 Aug 4.
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.
遗传诊断为产前决策和管理提供了重要信息。针对结构异常胎儿的外显子组测序（ES）在遗传诊断方面取得了有希望的结果。本范围综述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 进行基因检测的情况。在六周的时间内，对英文同行评议研究进行了快速范围综述。制定了针对主要数据库（例如 Medline）和灰色文献的搜索策略，并由信息专家进行了同行评议。使用表格和图表对确定的研究进行了分类和制图。从 2014 年至 2019 年，来自七个国家的 24 篇出版物被纳入研究。报告的最常见结果是诊断率，从 5%到 57%不等，以及产前表型。很少有研究报告与影响、决策和临床实用性相关的临床结果。6 项定性研究（n=6）提供了有关 ES 患者和医疗保健提供者体验的有用见解。研究结果表明，产前 ES 是有益的，但需要进一步研究以更好地了解临床实用性、理想使用情况、可行性以及将快速 ES 作为产前基因检测常规选择的成本。
