西班牙妇产科学会(Spanish Society of Gynecology and Obstetrics)和西班牙产前诊断协会(Spanish Association of Prenatal Diagnosis)制定的产前诊断 NGS 程序指南。

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Journal of Medical Genetics Pub Date : 2024-07-19 DOI:10.1136/jmg-2024-109878
Anna Abulí, Eugenia Antolín, Antoni Borrell, Maria Garcia-Hoyos, Fe García Santiago, Irene Gómez Manjón, Nerea Maíz, Cristina González González, Laia Rodríguez-Revenga, Irene Valenzuena Palafoll, Javier Suela
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引用次数: 0

摘要

目的:本文探讨了下一代测序(NGS)技术在产前基因诊断中的临床应用,旨在制定西班牙的临床实践建议,以确保在产前护理中统一应用这些技术:方法:成立了一个由产科医生和遗传学家专家组成的联合委员会,以审查有关用于遗传诊断的胎儿 NGS 的现有文献,并为西班牙医护人员提出建议:本指南总结了 NGS 技术的技术方面、产前临床适应症、报告结果的注意事项、遗传咨询注意事项以及数据存储和保护政策:本文件提供了在产前诊断中使用 NGS 诊断测试的最新建议。随着我们对 NGS 技术在孕期应用的临床效用的认识不断提高,应定期对这些建议进行审查。
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Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.

Objective: This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.

Methods: A joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.

Results: This guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.

Conclusions: This document provides updated recommendations for the use of NGS diagnostic tests in prenatal diagnosis. These recommendations should be periodically reviewed as our knowledge of the clinical utility of NGS technologies, applied during pregnancy, may advance.

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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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