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      Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis.

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          Abstract

          With the discovery of existing circulating cell-free fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future. At the moment, non-invasive prenatal testing (NIPT) is available for high-risk pregnancies with significant better sensitivity and specificity than the other existing non-invasive methods (biochemical and ultrasonographical). Mainly it is performed by NGS methods in a few commercial labs worldwide. However, it is expected that many other labs will offer analogous services in the future in this fast-growing field with a multiplicity of in-house methods (e.g., epigenetic, etc.). Due to various limitations of the available methods and technologies that are explained in detail in this manuscript, NIPT has not become diagnostic yet and women may still need to undergo risky invasive procedures to verify a positive finding or to secure (or even expand) a negative one. Efforts have already started to make the NIPT technologies more accurate (even at the level of a complete fetal genome) and cheaper and thus more affordable, in order to become diagnostic screening tests for all pregnancies in the near future.

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          Author and article information

          Journal
          Diagnosis (Berl)
          Diagnosis (Berlin, Germany)
          Walter de Gruyter GmbH
          2194-802X
          2194-802X
          Sep 01 2015
          : 2
          : 3
          Affiliations
          [1 ] 1Department of Clinical Biochemistry, Attikon University General Hospital, University of Athens Medical School, Athens, Greece.
          [2 ] 2Gene Diagnosis Genetics Lab, Athens, Greece.
          [3 ] 3Department of Obstetrics and Gynecology, Iaso Maternity Hospital, Athens, Greece.
          Article
          /j/dx.2015.2.issue-3/dx-2015-0002/dx-2015-0002.xml
          10.1515/dx-2015-0002
          29540035
          42d30b88-4b81-472d-93d8-b48bab900c1d
          History

          aneuploidy screening,massive-parallel DNA sequencing,next-generation sequencing (NGS),non-invasive prenatal testing (NIPT)

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