Literature DB >> 20966462

ESHRE PGD consortium best practice guidelines for amplification-based PGD.

G L Harton1, M De Rycke, F Fiorentino, C Moutou, S SenGupta, J Traeger-Synodinos, J C Harper.   

Abstract

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.

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Year:  2010        PMID: 20966462     DOI: 10.1093/humrep/deq231

Source DB:  PubMed          Journal:  Hum Reprod        ISSN: 0268-1161            Impact factor:   6.918


  55 in total

1.  First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

Authors:  Ayvaz Ozge; Hatırnaz Safak; Hatırnaz Ebru; Unsal Evrim; Sinanoglu Ekin Bilge; Ozer Leyla; Kadı Ali Kemal; Baltacı Volkan
Journal:  J Assist Reprod Genet       Date:  2012-02-22       Impact factor: 3.412

2.  SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.

Authors:  Chris M J van Uum; Servi J C Stevens; Joseph C F M Dreesen; Marion Drüsedau; Hubert J Smeets; Bertien Hollanders-Crombach; Christine E M de Die-Smulders; Joep P M Geraedts; John J M Engelen; Edith Coonen
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

3.  Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Authors:  Julie Steffann; Caroline Michot; Roxana Borghese; Marcia Baptista-Fernandes; Sophie Monnot; Jean-Paul Bonnefont; Arnold Munnich
Journal:  Eur J Hum Genet       Date:  2013-09-11       Impact factor: 4.246

4.  Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.

Authors:  Jos Dreesen; Aspasia Destouni; Georgia Kourlaba; Birte Degn; Wulf Christensen Mette; Filipa Carvalho; Celine Moutou; Sioban Sengupta; Seema Dhanjal; Pamela Renwick; Steven Davies; Emmanouel Kanavakis; Gary Harton; Joanne Traeger-Synodinos
Journal:  Eur J Hum Genet       Date:  2013-12-04       Impact factor: 4.246

5.  Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.

Authors:  Xavier Vendrell; Rosa Bautista-Llácer; Trinitat Maria Alberola; Elena García-Mengual; Merche Pardo; Antonio Urries; Julián Sánchez
Journal:  J Assist Reprod Genet       Date:  2011-06-24       Impact factor: 3.412

6.  Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.

Authors:  Alessio Paffoni; Valentina Paracchini; Stefania Ferrari; Claudia Scarduelli; Manuela Seia; Domenico A Coviello; Guido Ragni
Journal:  J Assist Reprod Genet       Date:  2011-03-01       Impact factor: 3.412

Review 7.  Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

Authors:  Kim Dao Ly; Ashok Agarwal; Zsolt Peter Nagy
Journal:  J Assist Reprod Genet       Date:  2011-07-09       Impact factor: 3.412

8.  Concurrent whole-genome haplotyping and copy-number profiling of single cells.

Authors:  Masoud Zamani Esteki; Eftychia Dimitriadou; Ligia Mateiu; Cindy Melotte; Niels Van der Aa; Parveen Kumar; Rakhi Das; Koen Theunis; Jiqiu Cheng; Eric Legius; Yves Moreau; Sophie Debrock; Thomas D'Hooghe; Pieter Verdyck; Martine De Rycke; Karen Sermon; Joris R Vermeesch; Thierry Voet
Journal:  Am J Hum Genet       Date:  2015-05-14       Impact factor: 11.025

Review 9.  ALWAYS ICSI? A SWOT analysis.

Authors:  E Bosch; J J Espinós; F Fabregues; J Fontes; J García-Velasco; J Llácer; A Requena; M A Checa; J Bellver
Journal:  J Assist Reprod Genet       Date:  2020-06-24       Impact factor: 3.412

10.  Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination.

Authors:  Rozemarijn Snoek; Rieke van der Graaf; Jildau R Meinderts; Franka van Reekum; Kitty W M Bloemenkamp; Nine V A M Knoers; Albertien M van Eerde; A Titia Lely
Journal:  Nephron       Date:  2020-02-24       Impact factor: 2.847

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