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SAFE: Special Non-Invasive Advances in Foetal and Neonatal Evaluation Network
Subproject of: SAFE: Special Non-Invasive Advances in Foetal and Neonatal Evaluation Network
- Abstract
- The establishment of non-invasive markers for prenatal diagnosis and neo-natal screening is a very important research goal. Current invasive procedures have (1)a significant risk of induced abortion (1-2%) or maternal injury and (2) considerable discomfort and psycological distress. Currently around 5 % of pregnant women in the developed world undergo invasive prenatal diagnosis procedures, mainly due to an increased risk for foetal chromosome abnormalities(such as trisomy 21 Down syndrome). In populations with a high penetrance of an inherited genetic disorder, such as the hemoglobinopathies, cystic fibrosis or Tay Sachs syndrome, it may be advantageous to determine the genotype early in life (neonates), as this will alert individuals, who are found o be carriers of the risk of having an affected child.
The transplacental passage of foetal cells into the maternal circulation is now well established, and a number of studies have been undertaken in order to isolate these rare foetal cells for prenatal diagnostic purposes. In spite of the technical problems imposed by the scarcity of these foetal cells, substantial progress has been made by individual research groups in Europe. There is now an urgent need to integrate these fragmented and diverse activities into a coherent strategy for non-invasive prenatal diagnosis.
The recent discovery of relatively abundant quantities of cell free DNA in maternal plasma and serum has opened a new avenue for the prenatal diagnosis of the latter group of genetic disorders as well as the determination of the foetal RhD genotype in pregnancies at risk for HDN (haemolytic disease of the foetus and newborn). In addition elevations in the concentration of the new found molecular analyte may be indicative of pregnancies bearing an aneuploid foetus or those at risk for pregnancy related disorders such as preterm labour or preeclampsia. This opens the possibility for new screening tools.
The advent of high throughput gene-CHIP technology will facilitate effective screening programs for common inherited genetic disorders. Thir will alert individuals to the possibility of having an affected foetus if the partner has a certain genetic constellation; a frequent dispensation in certain populations. The program will create a leading European Network of Excellence in the area of non-invasive prenatal diagnosis and neonatal screening.
- Local Subprojectlead:
- Pertl Barbara
- Duration:
- 01.03.2004-28.02.2009
- Programme:
- EU (FP-6)
- EU-Project Instruments
- Network of Excellence (NoE)
- Type of Research
- basic research
- MUG Research Units
- Center for Medical Research (ZMF)
- Department of Obstetrics and Gynaecology
- Project partners
- All India Institute of Medical Sciences, India
- Alma Mater Studiorum-Universita di Bologna Dipartimento di Medicina Interna Cardioangiologia Epatologia, Italy
- American Hospital of Paris, France
- Charles University Prague, 2nd Medical Faculty, Czech Republic
- Danek Gertner Institute of human genetics sheba medical center, Israel
- Department of Clinical Chemistry/University Medical Center Nijmegen , Netherlands
- Dept. of Medical Genetics/Athens University School of Medicine , Greece
- Dipartimento di Scienza della Cognizione e della Formazione/Università degli Studi di Trenti (DISCOF) , Italy
- Ecole Pratique des Hautes Etudes, France
- Estonian Biocentre (EBC), Estonia
- Fondazione Centro San Raffaele del Monte Tabor (FCSR), Italy
- Georg-August-University Goettingen/Bereich Humanmedizin , Germany
- Helsinki University, Finland
- Hospital Universitario Central de Asturias, Spain
- Imperial College London, United Kingdom
- IMSTAR SA, France
- Institut National de Sante et Recherche Medicale, France
- Institute of Genetics and Biophysics "A. Buzzati Traverso", Italy
- Karolinska Institut, Sweden
- KELLANTIS S.A.R.L, France
- King's College London, United Kingdom
- Leon Kozminski Academy of Entrepreneurship and Management, Poland
- Lund University Hospital Blood Centre, Sweden
- Meta Systems GmbH, Germany
- Microbiology Research Centre Holland, Netherlands
- National Blood Authority, United Kingdom
- Oxford Brookes University, United Kingdom
- PALM Microlaser Technologies AG, Germany
- Rigshospitalet University of Copenhagen, Denmark
- Sanquin Blood Supply Foundation, Netherlands
- Statens Serum Institut, Denmark
- Statistik Dr. M. Buser, Switzerland
- The Cyprus Institute of Neurology and Genetics, Cyprus
- The Genetic interest group, United Kingdom
- The open University Centre for education in Medicine, United Kingdom
- The Rare Chromosome Disorder Support group, United Kingdom
- Universitat Rovira i Virgili, Spain
- University College, London, United Kingdom
- University Court of the University of Aberdeen (UNIABDN), United Kingdom
- University of Bari, Italy
- University of Basel, Switzerland
- University of Bristol, United Kingdom
- University of Copenhagen, Denmark
- University of Perugia, Italy
- University of the West fo England, Bristol, United Kingdom
- University of Trieste, Italy
- University of Warwick, United Kingdom
- University of Zurich, Switzerland
- Up-to-date Informatik AG, Switzerland
- Zhongshan Medical College/Sun Yat-Sen University , China