ESHRE PGD consortium best practice guidelines for amplification-based PGD

被引:168
作者
Harton, G. L. [1 ,2 ]
De Rycke, M. [3 ]
Fiorentino, F. [4 ]
Moutou, C. [5 ]
SenGupta, S. [6 ]
Traeger-Synodinos, J. [7 ]
Harper, J. C. [6 ,8 ]
机构
[1] Reprogenetic LLC, Livingston, NJ 07039 USA
[2] Genet & IVF Inst, Preimplantat Genet Diag Lab, Fairfax, VA 22031 USA
[3] Univ Ziekenhuis, Ctr Med Genet, Brussels, Belgium
[4] Genoma Labs, Rome, Italy
[5] Univ Strasbourg, Hop Univ Strasbourg, Reprod Biol Lab, F-67000 Strasbourg, France
[6] UCL, Inst Womens Hlth, UCL Ctr PG & D, London, England
[7] Univ Athens, Aghia Sophia Childrens Hosp, Athens, Greece
[8] UCLH, Ctr Reprod & Genet Hlth, London, England
关键词
European Society for Human Reproduction and Embryology; PCR amplification; allele drop-out; quality control; quality assurance; single cell; PREIMPLANTATION GENETIC DIAGNOSIS; BIOPSY; RECOMBINATION; MISDIAGNOSIS; EFFICIENCY; RATES; PCR; DNA;
D O I
10.1093/humrep/deq231
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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.
引用
收藏
页码:33 / 40
页数:8
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