University of Warwick (1a) represented by Prof. Maj Hulten
Universitat Basel (2) represented by Prof. Wolfgang Holzgreve and Prof. Sinuhe Hanh
University of the West of England (3) represented by Prof. Neil Avent
Medizinische Universitat Graz (8a) represented by Prof. Barbara Pertl
Sanquin (9) represented by Prof. Ellen van der Schoot
Universita Karlova v Praze (10) represented by Prof. Ilona hromadnikowa
Estonian Biocenter (14) represented by Prof. Anders Metspalu
University of Aberdeen (15) represented by Prof. Stan Urbaniak
Fondazione Centro san Raffaele del Monte Tabor (16) represented by Dr. Laura Cremonesi
National and Kapodistrian University of Athens (19) represented by Dr Ariadni Mavrou
Cham Sheba Medical Center (21) represented by Dr Esther Guetta
Cyprus Institute of Neurology and Genetics (25a and 25b) represented by Dr Marina Kleanthous and Dr Philippos Patsalis
Universita Degli Studi di Perugia (28) represented by Prof. Gian Carlo di Renzo
Georg- August- Universiteat Goettingen (29) represented by Dr Tobias Legler
Institute of Genetics and Biophysics (33) represented by Dr Maurizio D'Esposito
Sun Yat-Sen University (37) represented by Prof. Yiming Wang
All India Institute of Medical Sciences (38) represented by Dr Madhulika Kabra
National Blood Service (39) represented by Dr Geoff Daniels
Lund University Hospital (40) represented Prof. Martin Olsson
University College London (41b) represented by Dr Lun Chitty
General Lab (54) represented by Dr Vincenzo Cirigliano
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Objectives
Non-Invasive detection of paternal alleles carried foetal DNA found in maternal plasma has been an area of intense activity, and has seen the introduction of small-scale non-invasive prenatal definition of blood group status. The approaches applied are not consistent, and at present are based on a single technological platform, using real-time PCR. The SAFE Network will unify many groups working in this area to standardise genotyping assays, using RhD genotyping as a model system. The overall objective of this will be to prepare for the large-scale implementation of RhD genotyping in all D-negative women, which represents 15-18% of all pregnancies. Further genotyping strategies for NIPD need to be developed notably b-thalassemia and cystic fibrosis. In order to provide routine NIPD, multiplexing involving the detection of further foetal alleles (e.g. SRY, SNPs, STR-bi-allelic markers) will be necessary to ensure that foetal DNA is detected in every maternal plasma samples, and quantitative analysis may reveal foetal abnormality. Maternal plasma based typing may provide a methodology to test for chromosome abnormalities in pregnancy, but will require either foetal/maternal DNA separation or enzymic manipulation (telomere depletion) to specifically degrade maternal DNA. Other nucleic acids, notably RNA can be found in maternal peripheral blood, and the suitability of this material for prenatal diagnosis will be assessed. Finally it is apparent that significant attention must be paid to developing high-throughput screening techniques if routine, large scale NIPD is to be implemented.
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Description of work
The following workpackages define the division of labour:
WP 3A.1 Free fetal DNA-based assays
WP 3A.2 NIPD for chromosomal abnormalities
WP 3A.3 Free fetal DNA as biomarker
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Deliverables and Milestones
These deliverables and milestones are from JPA M49 to 60 (1 March 08 to 28 Feb 09).
WP3A Deliverables
