无创产前筛查测试-更新2022年

IF 1.1 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Journal of Laboratory Medicine Pub Date : 2022-08-01 DOI:10.1515/labmed-2022-0023

Elena Kypri, M. Ioannides, A. Achilleos, G. Koumbaris, P. Patsalis, M. Stumm

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引用次数: 1

摘要

自2012年以来，使用母体血浆中无细胞DNA的无创产前检测(NIPT)作为13、18和21三体的高效一线或随机筛查方法在全球范围内得到应用。随着技术的进一步发展，筛查已扩大到其他遗传条件，如性染色体异常、罕见常染色体三体、微缺失/微重复、染色体结构畸变和单基因疾病。与此同时，商业供应商提供了许多不同的测试，性能各异，需要仔细评估其应用，以适用于临床实践的真正需要。在我们的综述中，我们介绍了不同的NIPT方法，并讨论了在提供负责任的妊娠管理方面的主要优势和局限性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Non-invasive prenatal screening tests – update 2022

Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development the screening has expanded to other genetic conditions such as sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations and monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, the application of which needs to be carefully evaluated to apply to the true needs of clinical practice. In our review we present the different NIPT methodologies and discuss the main strengths and limitations in the context of providing a responsible pregnancy management.

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来源期刊

Journal of Laboratory Medicine Mathematics-Discrete Mathematics and Combinatorics

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

10 weeks

期刊介绍： The Journal of Laboratory Medicine (JLM) is a bi-monthly published journal that reports on the latest developments in laboratory medicine. Particular focus is placed on the diagnostic aspects of the clinical laboratory, although technical, regulatory, and educational topics are equally covered. The Journal specializes in the publication of high-standard, competent and timely review articles on clinical, methodological and pathogenic aspects of modern laboratory diagnostics. These reviews are critically reviewed by expert reviewers and JLM’s Associate Editors who are specialists in the various subdisciplines of laboratory medicine. In addition, JLM publishes original research articles, case reports, point/counterpoint articles and letters to the editor, all of which are peer reviewed by at least two experts in the field.