Elena Kypri, M. Ioannides, A. Achilleos, G. Koumbaris, P. Patsalis, M. Stumm
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引用次数: 1
Abstract
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.
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.
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