Concurrent Sessions
Monday, May 7, 2006, 15.00 - 16.30 hrs - Room A
C08. Prenatal and preimplantation diagnosis
C46. Non invasive screening and rapid QF-PCR assay could
reduce the need of conventional cytogenetic analyses in prenatal diagnosis
V. Cirigliano1,2, G. Voglino3,
M. Adinolfi4;
1Dept. Genetica Molecular, General Lab, Barcelona, Spain, 2Departament
de Biologia Cel•lular Universitat Autonoma de Barcelona, Bellaterra, Spain,
3Molecular Genetics and Cytogenetics Lab, Promea, Torino, Italy, 4The
Galton Laboratory, University College London, London, United Kingdom.
C47. Chromosomal mosaicism, DNA methylation and
embryolethality: a possible link between cytogenetic and epigenetic factors in
the etiology of embryo aneuploidy
I. N. Lebedev, E. N. Tolmacheva, E. A. Sazhenova,
A. A. Kashevarova;
Insitute of Medical Genetics, Tomsk, Russian Federation.
C48. Ten years of a programme for presymptomatic testing
(PST) and prenatal diagnosis (PND) in late-onset neurological diseases in
Portugal: Machado-Joseph disease (MJD), Huntington disease (HD) and familial
amyloid neuropathy type I - ATTRV30M (FAP-I)
J. Sequeiros1,2, J. Pinto-Basto1,3,
T. Coelho1,4, J. C. Rocha1,5, S. Lêdo1,5, Â.
Leite1, L. Rolim1,6, M. Branco1,4, S.
Albuquerque1, M. Paneque1, S. W. Sequeiros1,7,
M. Marta1,4, P. Valente1,8, C. Barbot1,9, A.
Lopes1,8, J. Leal Loureiro1,10, M. Fleming1,2;
1IBMC, Univ. Porto, Portugal, 2ICBAS, Univ. Porto,
Portugal, 3IGM, Porto, Portugal, 4HGSA, Porto, Portugal,
5ISCS-N, Paredes, Portugal, 6Univ. Fernando Pessoa, Porto,
Portugal, 7ISPA, Lisbon, Portugal, 8Hosp. Magalhães Lemos,
Porto, Portugal, 9Hosp. Maria Pia, Porto, Portugal, 10Hosp.
S.Teotónio, Viseu, Portugal.
C49. Single-cell chromosomal imbalances detection by array
CGH
C. Le Caignec1,2, C. Spits2,
K. Sermon2, M. De Rycke2, B. Thienpont1, Y.
Moreau3, J. P. Fryns1, A. Van Steirteghem2, I.
Liebaers2, J. R. Vermeesch1;
1Center for Human Genetics, University Hospital Gasthuisberg, Leuven,
Belgium, 2Research Group Reproduction and Genetics, Vrije
Universiteit Brussel, Brussels, Belgium, 3ESAT-SISTA, K.U. Leuven,
Leuven, Belgium.
C50. Whole genome amplification with haplotype analysis -
a novel approach to preimplantation genetic diagnosis (PGD) for a wide range of
diseases.
P. J. Renwick1,2, J. Trussler2,
H. Fassihi3, P. Braude2,3, C. Mackie Ogilvie1,2,
S. Abbs1,2;
1Genetics Centre, Guy's Hospital, London, United Kingdom, 2Centre
for Preimplantation Genetic Diagnosis, Guy's Hospital, London, United Kingdom,
3King's College, London, United Kingdom.
C51. Preimplantation genetic diagnosis for HLA compatible
and disease free embryos: Single center experience.
E. Altıok1,2, F. Taylan1,2,
S. Yüksel1, C. Demirel3, E. Dönmez3, I. Ünsal4,
G. Demirkeser1;
1Acibadem Genetic Diagnosis Center, Istanbul, Turkey, 2Boğaziçi
University, Dept. Molecular Biology &Genetics, Istanbul, Turkey, 3Acibadem
IVF Center, Istanbul, Turkey, 4Acibadem Labmed, Istanbul, Turkey.