ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations

被引：77

作者：

Coonen, Edith ^{[1
,2
,3
]}

Rubio, Carmen ^{[4
]}

Christopikou, Dimitra ^{[5
]}

Dimitriadou, Eftychia ^{[6
]}

Gontar, Julia ^{[7
]}

Goossens, Veerle ^{[8
]}

Maurer, Maria ^{[9
]}

Spinella, Francesca ^{[10
]}

Vermeulen, Nathalie ^{[8
]}

De Rycke, Martine ^{[11
,12
]}

机构：

[1] Maastricht Univ Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[2] Maastricht Univ Med Ctr, Dept Reprod Med, Maastricht, Netherlands

[3] Maastricht Univ, Sch Oncol & Dev Biol, GROW, Maastricht, Netherlands

[4] Igenomix, PGT A Res, Valencia, Spain

[5] Private Ctr Human Reprod, Genet Dept, Embryogenesis, Athens, Greece

[6] Katholieke Univ Leuven, Ctr Human Genet, Dept Human Genet, Univ Hosp Leuven, O&N I Herestr 49, Leuven, Belgium

[7] Med Ctr IGR, Diagnost Lab, Kiev, Ukraine

[8] ESHRE Cent Off, Grimbergen, Belgium

[9] Kepler Univ Klinikum GmbH, Zentrum Med Genet Linz, Med Campus 4, Linz, Austria

[10] Genoma Grp, I-00138 Rome, Italy

[11] Univ Ziekenhuis Brussel, Ctr Med Genet, Brussels, Belgium

[12] Vrije Univ Brussel VUB, Reprod & Genet, Brussels, Belgium

来源：

HUMAN REPRODUCTION OPEN | 2020年 / 2020卷 / 03期

关键词：

ESHRE; preimplantation genetic testing; structural chromosomal aberrations; numerical chromosomal aberrations; aneuploidy; good practice; BODY ARRAY CGH; POLAR BODY; PRACTICE GUIDELINES; PREDICTION;

D O I：

10.1093/hropen/hoaa017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of PGT for chromosomal structural rearrangements (PGT-SR) and PGT for aneuploidies (PGT-A) and covers recommendations on array-based comparative genomic hybridisation (aCGH) and next-generation sequencing (NGS) for PGT-SR and PGT-A and on fluorescence in situ hybridisation (FISH) and single nucleotide polymorphism (SNP) array for PGT-SR, including laboratory issues, work practice controls, pre-examination validation, preclinical work-up, risk assessment and limitations. Furthermore, some general recommendations on PGT-SR/PGT-A are formulated around training and general risk assessment, and the examination and post-examination process. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for monogenic/single-gene defects (PGT-M). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.

引用

页数：20

共 17 条

[1] ESHRE PGT Consortium good practice recommendations for the organisation of PGT [J].