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Harton G.L.,Reprogenetics LLC | Harton G.L.,Genetics and IVF Institute | Magli M.C.,Reproductive Medicine Unit | Lundin K.,Sahlgrenska University Hospital | And 4 more authors.
Human Reproduction | Year: 2011

In 2005, the European Society for Human Reproduction and Embryology (ESHRE) Preimplantation Genetic Diagnosis (PGD) Consortium published a set of Guidelines for Best Practice to give information, support and guidance to potential, existing and fledgling PGD programmes (Thornhill AR, De Die-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Robinson MD, Schmutzler AG, Scriven PN et al. ESHRE PGD Consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 2005;20:3548.). The subsequent years have seen the introduction of a number of new technologies as well as the evolution of current techniques. Additionally, in light of ESHREs recent advice on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather than one document that covers all of PGD as in the original publication, these guidelines are separated into four new documents that apply to different aspects of a PGD programme; Organization of a PGD centre, fluorescence in situ hybridization-based testing, amplification-based testing and polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Here we have updated the sections that pertain to embryology (including cryopreservation) and biopsy of embryos prior to PGD or PGS. Topics covered in this guideline include uses of embryo biopsy, laboratory issues relating to biopsy, timing of biopsy, biopsy procedure and cryopreserving biopsied embryos. © 2010 The Author. Source


Harton G.L.,Reprogenetics LLC | Harton G.L.,Genetics and IVF Institute | De Rycke M.,Universitair Ziekenhuis | Fiorentino F.,Genoma Laboratories | And 5 more authors.
Human Reproduction | Year: 2011

In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. The subsequent years have seen the introduction of a number of new technologies as well as the evolution of current techniques. Additionally, in light of recent advice from ESHRE on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather than one document that covers all of PGD, as in the original publication, these guidelines are separated into four new documents that apply to different aspects of a PGD programme, i.e. Organization of a PGD centre, fluorescence in situ hybridization-based testing, Amplification-based testing and Polar Body and Embryo Biopsy for PGD/preimplantation genetic screening. Here, we have updated the sections that pertain to amplification-based PGD. Topics covered in this guideline include inclusion/exclusion criteria for amplification-based PGD testing, preclinical validation of tests, amplification-based testing methods, tubing of cells for analysis, set-up of local IVF centre and Transport PGD centres, quality control/quality assurance and diagnostic confirmation of untransferred embryos. © 2010 The Author. Source


Sapp J.C.,National Human Genome Research Institute | Hull S.C.,Human Genome Research Institutes | Duffer S.,Genetics and IVF Institute | Zornetzer S.,Genetics and IVF Institute | And 3 more authors.
Prenatal Diagnosis | Year: 2010

Objective: This study explores ambivalence toward undergoing amniocentesis among pregnant women with overall positive attitudes. Its novelty lies in the characterization of the type and origins of the ambivalence. Method: Thirty-six women between 35 and 44 years of age were recruited from a US prenatal testing center to participate in structured telephone interviews. Results: Thirty women chose to undergo testing. Attitudes toward undergoing amniocentesis were generally positive, although all participants simultaneously described feeling ambivalent. The women desired the information that amniocentesis could provide yet did not want to place their fetus at risk. Participants cited religious, moral, ethical and intellectual values important in shaping their attitudes toward undergoing amniocentesis. Important referents such as partners, other pregnant women, family members and physicians influenced their decisions. Conclusion: Tensions were evident among the intellectual, moral and spiritual values that contribute to ambivalence toward undergoing amniocentesis. Illuminating and discussing such tensions during the genetic counseling sessions prior to testing may resolve some of this ambivalence and thereby increase the quality of decisions women make. Copyright © 2009 John Wiley & Sons, Ltd. Source


Harper J.C.,University College London | Coonen E.,Maastricht University | De Rycke M.,Center for Medical Genetics | Harton G.,Reprogenetics | And 6 more authors.
Human Reproduction | Year: 2010

The 10th report of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium is presented, documenting cycles collected for the calendar year 2007 and follow-up of the pregnancies and babies born until October 2008 which resulted from these cycles. Since the beginning of the data collections there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection X, 57 centres participated, reporting on 5887 cycles to oocyte retrieval (OR), along with details of the follow-up on 1516 pregnancies and 1206 babies born. A total of 729 OR were reported for chromosomal abnormalities, 110 OR for sexing for X-linked diseases, 1203 OR for monogenic diseases, 3753 OR for preimplantation genetic screening and 92 OR for social sexing. Data X is compared with the cumulative data for data collections I-IX. © 2010 The Author. Source


Harper J.C.,University College London | Harton G.,Genetics and IVF Institute
Fertility and Sterility | Year: 2010

Background: In preimplantation genetic diagnosis (PGD), polymerase chain reaction has been used to detect monogenic disorders, and in PGD/preimplantation genetic screening (PGS), fluorescence in situ hybridization (FISH) has been used to analyze chromosomes. Ten randomized controlled trials (RCTs) using FISH-based PGS on cleavage-stage embryos and one on blastocyst-stage embryos have shown that PGS does not increase delivery rates. Is the failure of PGS due to a fundamental flaw in the idea, or are the techniques that are being used unable to overcome their own, inherent flaws? Array-based technology allows for analysis of all of the chromosomes. Two types of arrays are being developed for use in PGD; array comparative genomic hybridization (aCGH) and single nucleotide polymorphism-based (SNP) arrays. Each array can determine the number of chromosomes, however, SNP-based arrays can also be used to haplotype the sample. Objective(s): To describe aCGH and SNP array technology and make suggestions for the future use of arrays in PGD and PGS. Conclusion(s): If array-based testing is going to prove useful, three steps need to be taken: [1] Validation of the array platform on appropriate cell and tissue samples to allow for reliable testing, even at the single-cell level; [2] deciding which embryo stage is the best for biopsy: polar body, cleavage, or blastocyst stage; [3] performing RCTs to show improvement in delivery rates. If RCTs are able to show that array-based testing at the optimal stage for embryo biopsy increases delivery rates, this will be a major step forward for assisted reproductive technology patients around the world. Copyright © 2010 American Society for Reproductive Medicine, Published by Elsevier Inc. Source

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