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Abstracts of the 11th International Conference on Preimplantation Genetic Diagnosis

17 May 2012 - 19 May 2012

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102 Articles:

Article Title Author(s) Pages
Editorial Board

i
Preimplantation Genetic Diagnosis International Society (PGDIS)

iv
Welcome

Alan H. Handyside, Nicolas H. Zech v
Plenary Sessions
Article Title Author(s) Pages
PL1 Preconception testing by next generation sequencing

S. Kingsmore S27
PL2 Prenatal diagnosis in the era of the personal genome

J.R. Vermeesch S27
PL3 Prepatterning in the mammalian embryo

M. Zernica-Goetz S27
PL4 The establishment of cell lineages in the human preimplantation embryo

H. Van de Velde S27-S28
PL5 The challenge of genome wide analysis in clinical practice

M. Hengstschläger S28
PL6 Noninvasive prenatal diagnosis using free fetal DNA

D.Y.M. Lo S29
Sessions
Article Title Author(s) Pages
S1 Polar body based PGD for genetic and chromosomal disorders

A. Kuliev, Z. Zlatopolsky, I. Kirillova, Y. Ilkevitch, J. Cieslak Janzen et al. S31
S2 Why are human eggs so often aneuploid? A novel hypothesis from chromosome cohesion

N.R. Kudo S31
S3 Polar body biopsy and array CGH for aneuploidy in advanced maternal age

M. Montag S32
S4 The use of polar bodies and cumulus cells to assess oocytes and select embryos

E. Fragouli S32
S5 What about mitochondrial biopsy?

L. Gianaroli, M.C. Magli, I. Stanghellini, A.M. Crivello, A.P. Ferraretti et al. S32-S33
S6 Polar body analysis by array CGH and follow up at cleavage stages

D. Christopikou S33
S7 Blastocyst biopsy for aneuploidy screening

S. Munné, P. Colls, G. Harton, E. Fragouli S33-S34
S8 PGD for de novo mutations (DNM)

S. Rechitsky, E. Pomerantseva, T. Pakhalchuk, O. Verlinsky, A. Kuliev et al. S34
S9 PGD and HLA matching: a clinical update

S. Kahraman S34-S35
S10 Cleavage stage and blastocyst biopsy

A.H. Handyside S35
S11 Chromosomal mosaicism in the cleavage stage embryo revisited

L. Wilton S35
S12 Chromosomal instability in the human preimplantation embryo

T. Voet, N. Van der Aa, M. Zamani Esteki, P. Kumar, E. Vanneste, C. Melotte, P. Konings, S. Debrock, J.-P. Fryns, Y. Moreau, T. D'Hooghe, M.R. Stratton, P.J. Campbell, J.R. Vermeesch et al. S35
S13 PGD for aneuploidy and translocation chromosome imbalance by cleavage stage biopsy

F. Fiorentino S36
S14 Blastocyst biopsy for aneuploidy screening

D. Wells S36
S15 EQA for new diagnostic technologies

A.R. Thornhill S36
S16 Karyomapping as a means of universal diagnosis and providing insight into early human development

D.K. Griffin, A.R. Thornhill, A. Gordon, A.H. Handyside S37
S17 The application of bioinformatics to genetic testing for the detection of human aneuploidy and genotyping

C. Cinnioglu S37
S18 Four hour 24 chromosome aneuploidy screening

N. Treff S37
S19 Cost effective prevention of inherited disease by IVF and PGD

I. Tur-Kaspa S38
Invited Oral Communications
Article Title Author(s) Pages
O1 Polar body 1, polar body 2 and blastomere analysis in PGS treatment

S. Fishel, E. Cater, C. Lynch, L. Jenner, A. Campbell et al. S39
O2 Altered morphokinetic parameters of embryos identified as aneuploid by single cell array CGH analysis at the 8-cell stage

S. Davies, D. Christopikou, E. Tsorva, T. Karagianni, M. Mastrominas, A.H. Handyside et al. S39-S40
O3 Aneuploidy screening reveals high incidence of abnormalities of chromosomes which are not involved in the rearrangements

C. Beyazyurek, C. Yapan, C.G. Ekmekci, M. Yesil, G. Altin, H.K. Yelke, S. Kahraman et al. S40
O4 Preimplantation Genetic Diagnosis (PGD) for chromosomal rearrangements (CR) using arrays of comparative genome hybridization (aCGH). Risk assessment depending on the type of CR, the maternal age and the sex of the carrier

A. Jimenez-Macedo, E. Garcia-Guixé, T. Escudero, P. Colls, S. Munné, C. Gimenez, M. Sandalinas et al. S40-S41
O5 Determination of mutation loads in preimplantation embryos to assess the effectiveness of preimplantation genetic diagnosis (PGD) for mitochondrial DNA (mtDNA) inherited disorders

L. Irving, L. Craven, C. Alston, S. Byerley, R.W. Taylor, M. Herbert, D.M. Turnbull et al. S41
O6 Homozygous mutations and haplotype backgrounds; implications for PGD

P. Renwick, H. Patel, Y. Khalaf, R. Al-Dabbous, C. Ogilvie et al. S41-S42
O7 Assessment of 669 embryos and clinical outcome from 113 cycles using array CGH of blastomeres

K. Veselá, M. Horňák, J. Horák, E. Oráčova, L. Hromadová, J. Vesely, P. Trávník, J. Rubeš et al. S42
O8 Accuracy rates in biopsies performed on day-3 and day-5 embryos using CGHarray technology for PGS

P. Mir, L. Rodrigo, E. Mateu, A. Mercader, L. Escrich, P. Buendía, A. Delgado, M.E. Poó, M. Vera, C. Simón, C. Rubio et al. S42
O9 Mosaicism in blastocyst stage embryos

P. Barahona, M. Traversa, D. Leigh, S. McArthur S42-S43
O10 Use of next generation sequencing technology is feasible for current PGD with fresh embryo transfer

K.P. Xu, A.R. Victor, C.H. Zhang, H. Jiang, X.C. Li, X.Q. Zhang, H.M. Yang, Z. Rosenwaks et al. S43
O11 Blastocyst trophoderm cells screening by massively parallel sequencing for aneuploidy and imbalanced chromosomal arrangements detection

X. Yin, K. Tan, C.L. Zhang, S. Chen, C.S. Zhang, X. Pan, X.C. Li, F. Chen, H. Jiang, G. Lin, G. Lu, X.Q. Zhang et al. S43-S44
012 Non-invasive prenatal diagnosis of congenital adrenal hyperplasia

M.I. New, O. Lekarev, T. Yuen, D.Y.M. Lo S44
Posters
Article Title Author(s) Pages
P1 The importance of identifying the mutation in cases of preimplantation genetic diagnosis

R. Tomashov-Matar, G. Biran, R. Garor, O. Sapir, N. Kotler, M. Shohat, B. Fisch et al. S45
P2 Instant familial haplotyping in conjunction with embryo analysis in preimplantation genetic diagnosis (PGD) using DNA microarrays

G. Altarescu, D.A. Zeevi, S. Zeligson, S. Perlberg, T. Eldar Geva, I. Varshaver, E.J. Margalioth, E.L. Lahad, P. Renbaum et al. S45
P3 Preimplantation genetic diagnosis for BRCA2 deletion mutation using whole genome amplification and linkage analysis

J.F.C. Chow, W.S.B. Yeung, E.Y.L. Lau, E.H.Y. Ng, P.C. Ho et al. S45-S46
P4 Preimplantation genetic diagnosis in four Tunisian carriers of chromosomal translocations

N. Bouayed Abdelmoula S46
P5 Review on PGD service in Hong Kong over a decade

V.C.Y. Lee, J.F.C. Chow, E.Y.L. Lau, E.H.Y. Ng, W.S.B. Yeung, P.C. Ho et al. S46-S47
P6 Combination of biopsy and cryopreservation on cleavage stage human embryos

O. Okutman-Emonts, M. Gultomruk, T. Aksoy, C. Goktas, H.N. Ciray, M. Bahceci et al. S47
P7 Embryo rebiopsy in PGD program – a case report

G. Biran, R. Tomashov-Matar, K. Naomi, G. Roni, O. Sapir, M. Shohat, B. Fisch et al. S47
P8 First experiences with PGD after trophectoderm biopsy at Kinderwunsch Centrum Munich (KCM), Germany

R. Suttner, D. Shakeshaft, U. Koehler, U. Schon, Th. Harasim, A. Wagner, E. Holinski-Feder, I. Rost, W. Wurfel et al. S48
P9 What is the better oocytes' number in the preimplantation genetic diagnosis cycles of the male Robertsonian translocations?

J. Huang, J. Qiao, P. Liu S48-S49
P10 Preimplantation genetic diagnosis for the first family with Tay–Sachs disease in Cyprus

G. Christopoulos, T. Georgiou, V. Anastasiadou, E. Spanou, G. Mavrikiou, A. Drousiotou, M. Kleanthous et al. S49
P11 Effects of trehalose and hyaluronic acid on motility, normal apical ridge and in vitro fertilizing ability of boar spermatozoa after cryopreservation

Z. Wang, Y. Songdong S49
P12 Direct counting of chromatids in polar bodies with digital PCR – a new method for aneuploidy screening in oocytes

A. Daser, E. Day, B. Konfortov, H. Turley, A. Immesberger, T. Haaf, U. Zechner, T. Hahn, P.H. Dear, M. Schorsch et al. S50
P13 Comprehensive embryo screening and the ‘best embryo’: procreative beneficence revisited

K. Hens, W. Dondorp, G. de Wert S50
P14 Expression analysis of cardiometabolic genes in children born after assisted reproductive technologies

M. De Rycke, C. Geldof, A. Sutcliffe, M. Bonduelle, L. Petrussa et al. S50-S51
P15 PGD by FISH in India: first live-birth after PGD for a reciprocal translocation

P.F. Madon, N.J. Naik, A.S. Athalye, D.J. Naik, F.R. Parikh et al. S51
P16 The effect of maintaining Oct4 expression in the trophoblast of mouse blastocysts

M. Donnison, R. Broadhurst, C. Smith, D. Berg, P. Pfeffer et al. S51
P17 The use of FISH and TUNEL to study the effect of GM-CSF on aneuploidy and DNA fragmentation in murine blastocysts cultured in vivo and in vitro

A. Elaimi, A. Balasuriya, J.C. Harper S51-S52
P18 Preimplantation genetic diagnosis for translocation t(6;14)(q26;q31) using array comparative genomic hybridization at the blastocyst stage

Y.N. Su, C.C. Hung, M.Y. Fang, S.U. Chen S52
P19 Incorporation of non-invasive prenatal diagnosis in the management of PGD pregnancies: A new X-linked inmunodeficiency case

A. Bustamante-Aragones, M. Rodriguez de Alba, S. Perlado, M.J. Trujillo-Tiebas, J. Gallego-Merlo, L. Rodriguez, C. Linares, I. Lorda, C. Hernandez, J. Plaza, C. Ramos et al. S52-S53
P20 First European report of a baby born from PGD for Vanishing White Matter disease

S. Modamio, S. Fernández, D. Company, T. Draper, S. Rechitsky, M. López-Teijón, E. Velilla et al. S53

102 Articles: