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Médecine de la Reproduction

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Preimplantation genetic testing: current status Volume 20, issue 4, Octobre-Novembre-Décembre 2018

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Authors
1 CIRH. Lab. Andrología. Pza. Eguilaz, 14, bajos, 08017 Barcelona, Spain
2 CIRH. Lab. FIV. Pza. Eguilaz, 14, bajos, 08017 Barcelona, Spain
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Preimplantation genetic testing (PGT) is a procedure that involves the removal of 1 or 2 polar bodies (PB) from the oocyte or one blastomere or some trophectoderm cells from an embryo in order to test, prior to implantation, if the oocyte or embryo has alterations in the genome sequence or in its chromosome's structure or number. Thousands of children have already been born following PGT, without finding a significant increase in the prevalence of congenital malformations, compared to that in the general population. The major improvement in PGT has recently been achieved through the application of next generation sequencing (NGS), coupled with blastocyst biopsy and vitrification. According to some authors; this combination allows to perform an embryo transfer in a subsequent unstimulated cycle, resulting in statistically significant increased implantation and pregnancy rates, and a reduction of the spontaneous abortion rate. However, there are still contradictory opinions about the benefit of the application of these techniques. For this reason, it makes recommendable counseling of couples considering PGT, including genetic counseling, discussion of the risks associated with IVF, embryo biopsy, extended embryo culture, and discussion of the limitations of PGT, including the risk for misdiagnosis. The present revision gives a current vision of the utility and limitations of PGT and also an overview of the procedures involved in the technique.

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