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(8019 S) Layout 1 17/07/2012 15:12 Page 1 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 1 24sure publications First to deliver 24 chromosome aneuploidy screening in 12 hours 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 2 24sure is a ground breaking technology which delivers aneuploidy screening of 24 chromosomes, within a 12 hour period, starting from single cells. 24sure uses a reliable and proven amplification method that delivers representative amplification of genomic DNA. Amplified samples are then co-hybridised to 24sure or 24sure+ slides, BAC microarray platforms designed to enable robust and reliable calling of results. 24sure uses microarray based approaches to investigate whole chromosome copy number ploidy for pre-implantation genetic screening (PGS). 24 chromosome aneuploidy screening is rapidly evolving. This document contains a list of the key publications in the preimplantation genetic screening field and studies that use 24sure. Included in this compilation are articles concerned with validating the use of 24sure to screen all 24 chromosomes, articles that use the 24sure and 24sure+ platforms, general interest PGD/PGS articles such as the ESHRE PGD consortium best practice guidelines. Finally, a number of abstracts are included from conferences that have taken place in 2011 and to date in 2012. Articles and abstracts included in this document were compiled in June 2012. For a more up to date list please visit: http://www.24suretest.com/literature Key Further information/article pdf freely available online from publishers site Journal subscription or payment required for pdf download from publishers site Available at http://www.cytochip.com/presentations (login required) No further information currently available Version 1.4 June 2012 2 24sure publications | BlueGnome 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:14 Page 63 Meeting abstracts – Fertility 2011 Application of aCGH for preimplantation genetic diagnosis of chromosome rearrangements and additional unrelated chromosome aneuploidy Colleen Lynch, Dr Lucy Jenner, Dr Simon Fishel, CARE Fertility, Nottingham, NG7 8PZ, UK Trophectoderm biopsy and arrayCGH to detect unbalanced forms of t(9;15)(q22.2;q11.1) after failed FISH Colleen Lynch, Ellen Cater, Lucy Jenner, Simon Fishel, CARE Fertility, Nottingham, NG7 8PZ, UK Multiple Factor PGD – Diagnosis of chromosome aneuploidy and translocation status, HLA type and Fanconi Anaemia Type A in a single blastomere Colleen Lynch, Kathryn Berrisford, Natalie Keown, Dr Lucy Jenner, Dr Anthony Brown, Dr Simon Fishel, Dr Mark Hughes, CARE Fertility, Nottingham, NG7 8PZ, UK Comprehensive characterisation of chromosome abnormalities in human blastocysts Samer Alfarawati, Elpida Fragouli, Anastasia Mania, Tracey Griffiths, Tony Gordon, Danny Daphnis, Dagan Wells; Reprogenetics UK, Oxford, UK; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, Oxford, UK High implantation, pregnancy and birth rates after comprehensive chromosomal screening of blastocysts Dagan Wells, Samer Alfarawati, Elpida Fragouli, Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK BlueGnome | 24sure publications 63 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:14 Page 64 Head office US office Singapore CPC4, Capital Park 823 Valencia Avenue Representative Office Fulbourn, Cambridge, CB21 5XE Half Moon Bay 3 Science Park Drive #02-12/25 United Kingdom CA 94019 The Franklin tel: +44 (0) 1223 885900 USA Science Park I fax: +44 (0) 1223 885949 toll free: 1-800-418-9656 118223 email: [email protected] tel: (650) 284 9732 Singapore web: www.24suretest.com fax: (814) 284 8650 tel: (65) 9831 0060 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 3 Contents Validation of 24sure technology Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with arrayCGH for good prognosis IVF patients: results from a randomised pilot study . .10 Validation of array comparative genome hybridisation for diagnosis of translocations in preimplantation human embryos . .11 Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridisation reduce multiple gestation rate by single fresh blastocyst transfer? . .12 Polar body arrayCGH for prediction of the status of the corresponding oocyte. Part I: clinical results . .13 Polar body arrayCGH for prediction of the status of the corresponding oocyte. Part II: technical aspects . .14 Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation . .15 Validation of microarray comparative genomic hybridisation for comprehensive chromosome analysis of embryos . .16 24sure – articles using preimplantation genetic screening ArrayCGH analysis shows that aneuploidy is not related to the number of embryos generated . .17 Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation . 18 Detection of aneuploidy by array comparative genomic hybridisation using cell lines to mimic a mosaic trophectoderm biopsy . 19 Assessment of 19,803 paired chromosomes and clinical outcome from first 150 cycles using arrayCGH of the first polar body for embryo selection and transfer . 20 Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans . 21 Live birth after polar body array comparative genomic hybridisation prediction of embryo ploidy – the future of IVF? . 21 BlueGnome | 24sure publications 3 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 4 24sure+ – articles using translocation preimplantation genetic diagnosis PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridisation . 22 Combined translocation and aneuploidy-screening after polar body biopsy and arrayCGH . 23 First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridisation and microarray analysis . 24 PGD/PGS general interest ESHRE PGD consortium best practice guidelines for organisation of a PGD centre for PGD/preimplantation genetic screening . 25 ESHRE PGD consortium best practice guidelines for amplification-based PGD . 25 ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridisation-based PGD . 25 ESHRE PGD Consortium/Embryology Special Interest Group – best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS) . 25 A new era of PGS for IVF – will it yield the anticipated improved efficiency? . 26 Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes . 26 Preimplantation genetic diagnosis after 20 years . 26 What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee . 26 What next for preimplantation genetic screening? A polar body approach! . 27 4 24sure publications 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 5 Contents Meeting abstracts PGDIS 2012 Oral presentations [S3] Polar body biopsy and arrayCGH for aneuploidy in advanced maternal age . 28 [S14] Blastocyst biopsy for aneuploidy screening . 28 [O4] Preimplantation Genetic Diagnosis (PGD) for chromosomal rearrangements (CR) using arrays of comparative genome hybridisation (aCGH). Risk assessment depending on the type of CR, the maternal age and the sex of the carrier . 28 [S4] The use of polar bodies and cumulus cells to assess oocytes and select embryos . 28 [S13] PGD for aneuploidy and translocation chromosome imbalance by cleavage stage biopsy . 28 [O1] Polar body 1, polar body 2 and blastomere analysis in PGS treatment . 28 [S16] Karyomapping as a means of universal diagnosis and providing insight into early human development . 28 [S6] Polar body analysis by arrayCGH and follow up at cleavage stages . 29 [O2] Altered morphokinetic parameters of embryos identified as aneuploid by single cell arrayCGH analysis at the 8-cell stage . 29 [S11] Chromosomal mosaicism in the cleavage stage embryo revisited . 29 [O3] Aneuploidy screening reveals high incidence of abnormalities of chromosomes which are not involved in the rearrangements . 29 [S7] Blastocyst biopsy for aneuploidy screening . 29 [O8] Accuracy rates in biopsies performed on day 3 and day 5 embryos using CGHarray technology for PGS . 29 Posters [P18] Preimplantation genetic diagnosis for translocation t(6;14)(q26;q31) using array comparative genomic hybridisation at the blastocyst stage . 29 [P8] First experiences with PGD after trophectoderm biopsy at Kinderwunsch Centrum Munich (KCM), Germany . 29 BlueGnome | 24sure publications 5 8019 24sure A5 1.4 (8019 S)_Layout 1 17/07/2012 15:12 Page 6 [P51] Multiple Factor PGD – 4 case reports involving testing for up to 4 indications in a single blastomere . 29 [P35] First Hungarian results on aneuploidy patterns of day three embryos analysed by array comparative genome hybridisation . 30 [P48] Application of aCGH for pre-implantation genetic diagnosis of chromosome rearrangements and additional unrelated chromosome aneuploidy . 30 [P38] Birth after Preimplantation Genetic Diagnosis (PGD) using Microarray Comparative Genomic Hybridisation (MaCGH) for chromosome inversion (1) (p35q42) . 30 [P26] Increased pregnancy rates after trophectoderm biopsy for PGD of monogenic diseases and chromosomal aberrations
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