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Cell-based non-invasive prenatal diagnosis
- Abstract
- Genetic prenatal diagnosis is dependent on procurement of fetal cells. This is done my invasive methods such as amniocentesis and chorionic villous sampling. These methods are associated to a risk of 0.5 1% of subsequent abortus. For this reason genetic prenatal diagnosis is restricted to pregnancies with are associated with an increased risk of renetik disease of the fetus, such as age of the pregnant women higher than 35 years. In fact the majority of children with genetic diseases is born at the end of pregnancies which have not abeen associated with an increased risk, where the risk of invasive procedures cannot be justified.
Based on a method which we developed previously for sex-independent analysis of the fetal identity of cells in a fetal microchimeric setting, we plan to establish a technique allowing for non-invasive prenatal diagnosis of both numeric chromosomal aberrations and monogenetic hereditary diseases, using analysis of single cells. We will compare the efficiency of established protocols for enrichment of fetal cells from the peripheral blood of pregnant women. Furthermore, we will establish whole genome amplification of single cells and combine the analysis of fetal identity with analysis of trisomy by means of array comparative genomic hybridization. As a proof of principle for feasibility of analysis of monogenic hereditary diseases using the preamplified genome of single cells we will analyze mutations of the CFTR gene.
The results of this work will be commercially exploited as we plan to establish an supra-regional center for cell-based non-invasive prenatal diagnosis by using the facilities of the Medical University of Graz.
- Keywords
- medical diagnostics
- Einzelzellanalyse
- nichtinvasive Pränataldiagnostik
- Project Leader:
- Sedlmayr Peter
- Duration:
- 01.12.2010-31.12.2014
- Programme:
- Translational Research
- Type of Research
- applied research
- Staff
- Sedlmayr, Peter, Project Leader
- Kroneis, Thomas, Co-worker
- MUG Research Units
- Diagnostic and Research Institute of Human Genetics
- Diagnostic and Research Institute of Pathology
- Division of Cell Biology, Histology and Embryology
- Division of Obstetrics
- Gottfried Schatz Research Center (for Cell Signaling, Metabolism and Aging)
- Project results published
- > Verification of the genomic identity of candidate ... Chimerism. 2011; 2(3):63-64
- > Microchimerism: implications for immunology and pr... AMER J REPROD IMMUNOL. 2010; 64: 6-6.-. 2nd International Conference on Reproductive Immunology; NOV 28 - DEC 2, 2010; Shanghai. CHINA.
- > Microchimerism. Implications for immunology and pr... Seminar; NOV 29, 2010; Wuxi, CHINA. 2010.