Médecine de la Reproduction
MENUPGD-AS techniques and methodologies Volume 20, issue 4, Octobre-Novembre-Décembre 2018
- Key words: PGD, PGD-AS, preimplantation genetic diagnosis, aneuploidy, NGS
- DOI : 10.1684/mte.2019.0729
- Page(s) : 272-83
- Published in: 2018
Numerical chromosomal abnormalities or aneuploidies are an important cause of early miscarriages, embryonic development failure, implantation failure and can lead to the birth of children with severe pathology. Since many years, preimplantation genetic diagnosis (PGD) practices and techniques have considerably evolved with the use of in situ fluorescent hybridization, quantitative fluorescent PCR, DNA chips and finally new generation sequencing techniques. The fast evolution and the increasing efficiency of these approaches allowed to implement PGD for aneuploidy screening in clinical practice. This review aims to present different aneuploidy research techniques that have been clinically proven or are currently under development.
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