Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis
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.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis ; volume:2 ; number:3 ; year:2015 ; pages:141-158 ; extent:18
Diagnosis ; 2, Heft 3 (2015), 141-158 (gesamt 18)
- Creator
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Kotsopoulou, Ioanna
Tsoplou, Panagiota
Mavrommatis, Konstantinos
Kroupis, Christos
- DOI
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10.1515/dx-2015-0002
- URN
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urn:nbn:de:101:1-2412011618267.374752583635
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:27 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kotsopoulou, Ioanna
- Tsoplou, Panagiota
- Mavrommatis, Konstantinos
- Kroupis, Christos
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