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SAFE: Special Non-Invasive Advances in Foetal and Neonatal Evaluation Network

Teilprojekt zu: 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.

Lokale Teilprojektleitung:

Pertl Barbara

Laufzeit:

01.03.2004-28.02.2009

Programm:

EU (FP-6)

EU-Projektinstrument

Network of Excellence (NoE)

Art der Forschung

Grundlagenforschung

Mitarbeiter*innen

Pertl, Barbara, Projektleiter*in

Beteiligte MUG-Organisationseinheiten

Abteilung Zentrum für Medizinische Forschung (ZMF)

Universitätsklinik für Frauenheilkunde und Geburtshilfe

Projektpartner

All India Institute of Medical Sciences, Indien

Alma Mater Studiorum-Universita di Bologna Dipartimento di Medicina Interna Cardioangiologia Epatologia, Italien

American Hospital of Paris, Frankreich

Charles University Prague, 2nd Medical Faculty, Tschechische Republik

Danek Gertner Institute of human genetics sheba medical center, Israel

Department of Clinical Chemistry/University Medical Center Nijmegen , Niederlande

Dept. of Medical Genetics/Athens University School of Medicine , Griechenland

Dipartimento di Scienza della Cognizione e della Formazione/Università degli Studi di Trenti (DISCOF) , Italien

Ecole Pratique des Hautes Etudes, Frankreich

Estonian Biocentre (EBC), Estland

Fondazione Centro San Raffaele del Monte Tabor (FCSR), Italien

Georg-August-University Goettingen/Bereich Humanmedizin , Deutschland

Helsinki University, Finnland

Hospital Universitario Central de Asturias, Spanien

Imperial College London, Großbritannien

IMSTAR SA, Frankreich

Institut National de Sante et Recherche Medicale, Frankreich

Institute of Genetics and Biophysics "A. Buzzati Traverso", Italien

Karolinska Institut, Schweden

KELLANTIS S.A.R.L, Frankreich

King's College London, Großbritannien

Leon Kozminski Academy of Entrepreneurship and Management, Polen

Lund University Hospital Blood Centre, Schweden

Meta Systems GmbH, Deutschland

Microbiology Research Centre Holland, Niederlande

National Blood Authority, Großbritannien

Oxford Brookes University, Großbritannien

PALM Microlaser Technologies AG, Deutschland

Rigshospitalet University of Copenhagen, Dänemark

Sanquin Blood Supply Foundation, Niederlande

Statens Serum Institut, Dänemark

Statistik Dr. M. Buser, Schweiz

The Cyprus Institute of Neurology and Genetics, Zypern

The Genetic interest group, Großbritannien

The open University Centre for education in Medicine, Großbritannien

The Rare Chromosome Disorder Support group, Großbritannien

Universitat Rovira i Virgili, Spanien

University College, London, Großbritannien

University Court of the University of Aberdeen (UNIABDN), Großbritannien

University of Bari, Italien

University of Basel, Schweiz

University of Bristol, Großbritannien

University of Copenhagen, Dänemark

University of Perugia, Italien

University of the West fo England, Bristol, Großbritannien

University of Trieste, Italien

University of Warwick, Großbritannien

University of Zurich, Schweiz

Up-to-date Informatik AG, Schweiz

Zhongshan Medical College/Sun Yat-Sen University , China

Gefördert durch

Europäische Kommission, Rue de la Loi, Brussels, Belgien