Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
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SHR Neuro Krebs Kardio Lipid Stoffw Microb
Geigl, JB; Speicher, MR.
Nichtinvasive molekulargenetische Methoden in der pränatalen Diagnostik.
Medizinische Genetik. 2011; 23(4): 485-489.
Doi: 10.1007/s11825-011-0304-x
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- Führende Autor*innen der Med Uni Graz
- Geigl Jochen Bernd
- Co-Autor*innen der Med Uni Graz
- Speicher Michael
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- Abstract:
- Work on the development of noninvasive prenatal tests to avoid risk to the fetus in traditional amniocentesis or chorion villus biopsy has been ongoing for many years. Until recently, most approaches were extremely expensive and limited only to selected applications, thus they failed to develop beyond a "proof-of-principle" status. This has changed radically as a result of the introduction of new sequencing methods, since initial studies have shown that fetal aneuploidies from maternal plasma DNA can be identified correctly. In addition, these techniques make it possible to establish even the mutation status of the fetus. While on the one hand this offers completely new options in prenatal diagnosis, progress of this kind is associated with significant ethical challenges on the other. This overview article presents the development of these new methods.
- Find related publications in this database (Keywords)
- Prenatal diagnosis
- Aneuploidy
- Monogenic diseases
- Carrier testing
- Next-generation sequencing