当前位置：
X-MOL 学术
›
Clin. Genet.
›
论文详情
Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-06-21 , DOI: 10.1111/cge.14010 Jasmijn E Klapwijk 1 , Malgorzata I Srebniak 1 , Attie T J I Go 2 , Lutgarde C P Govaerts 1 , Celine Lewis 3, 4 , Jennifer Hammond 3, 5 , Melissa Hill 3, 5 , Stina Lou 6 , Ida Vogel 6, 7, 8 , Kelly E Ormond 9 , Karin E M Diderich 1 , Hennie T Brüggenwirth 1 , Sam R Riedijk 1
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-06-21 , DOI: 10.1111/cge.14010 Jasmijn E Klapwijk 1 , Malgorzata I Srebniak 1 , Attie T J I Go 2 , Lutgarde C P Govaerts 1 , Celine Lewis 3, 4 , Jennifer Hammond 3, 5 , Melissa Hill 3, 5 , Stina Lou 6 , Ida Vogel 6, 7, 8 , Kelly E Ormond 9 , Karin E M Diderich 1 , Hennie T Brüggenwirth 1 , Sam R Riedijk 1
Affiliation
|
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.
中文翻译：
如何应对产前基因组学的不确定性：指南和政策的系统回顾
外显子组测序（ES）提高了基因检测的诊断率，但也增加了不确定结果的可能性。通过超声波检测到胎儿异常后，越来越多的人开始接受产前 ES 治疗。了解如何在这个压力特别大的时期应对不确定性非常重要。本系统综述旨在全面概述可用于解决与产前染色体微阵列 (CMA) 和 ES 相关的不确定性的指南。国际多学科团队确定并定义了与产前 ES 和 CMA 相关的十种不确定性类型。对 Medline（全部）和 Embase 进行了系统检索。实验室科学家、临床遗传学家、心理学家和胎儿医学专家筛选了这些论文并提取了数据。共收录论文十九篇。建议通常强调三重分析、临床信息、数据共享、验证和重新分析、方案、多学科团队、遗传咨询、是否限制可能的结果范围以及何时报告特定发现的重要性。这种系统回顾有助于提供不确定性的词汇和应对不确定性的指南针。产前 CMA 和 ES 指南为确定如何处理不确定性提供了强有力的起点。确定并讨论了指南和建议中的差距，为未来的研究和政策制定提供方向。
更新日期：2021-06-21
中文翻译：
如何应对产前基因组学的不确定性：指南和政策的系统回顾
外显子组测序（ES）提高了基因检测的诊断率，但也增加了不确定结果的可能性。通过超声波检测到胎儿异常后，越来越多的人开始接受产前 ES 治疗。了解如何在这个压力特别大的时期应对不确定性非常重要。本系统综述旨在全面概述可用于解决与产前染色体微阵列 (CMA) 和 ES 相关的不确定性的指南。国际多学科团队确定并定义了与产前 ES 和 CMA 相关的十种不确定性类型。对 Medline（全部）和 Embase 进行了系统检索。实验室科学家、临床遗传学家、心理学家和胎儿医学专家筛选了这些论文并提取了数据。共收录论文十九篇。建议通常强调三重分析、临床信息、数据共享、验证和重新分析、方案、多学科团队、遗传咨询、是否限制可能的结果范围以及何时报告特定发现的重要性。这种系统回顾有助于提供不确定性的词汇和应对不确定性的指南针。产前 CMA 和 ES 指南为确定如何处理不确定性提供了强有力的起点。确定并讨论了指南和建议中的差距，为未来的研究和政策制定提供方向。
京公网安备 11010802027423号