Journal of Fertilization: In Vitro - IVF-Worldwide, Reproductive Medicine, Genetics & Stem Cell Biol
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Abstrakt

Preimplantation Genetic Diagnosis in Midwest of Brazil

Tarik Kassem Saidah1*, Waldemar Naves do Amaral1, Carolina Macedo Saidah1, Patricia Evangelista1,Mohamed Kassem Saidah2, Kassem Saidah2

Introduction: With the development of new technologies, Preimplantation Genetic Diagnosis (PGD) performed dramatically increases the ability to detect embryonic and fetal genetic lesions and, as a consequence, substantially improve the selection of embryos for in vitro fertilization.

Objective: To define the most common indications for carrying out the preimplantation genetic study and also to establish the maternal age that presented the most changes and to evaluate the most common results found in the preimplantation genetic study.

Methods: This is a descriptive, cross-sectional, and retrospective study conducted at the Fertile and Humana reproduction clinics, in Goiania, in patients undergoing preimplantation genetic study in assisted reproduction. All patients who underwent the preimplantation genetic study between January 2014 and March 2019 included. The total number was 70 patients, with 101 assisted reproduction cycles.

Results: 101 assisted reproduction cycles were evaluated, with 70 patients. 327 embryos were resulting in 105 normal embryos and 182 altered ones, 40 embryos failed to amplify. Among these 105, 49 transfers were made with 52 transferred embryos. The average maternal age was 36.86 years and the paternal age was 39.20 years. The patients had 7 indications for carrying out the embryo genetic study and 14 of the 70 patients had more than one indication for carrying out the embryo evaluation. The rate of ongoing pregnancy in patients undergoing the genetic study was 34.69%. The main changes found were aneuploidies 86.92%, followed by structural changes 13.18%, linked to gene diseases represented 4.39%. Regarding aneuploidies, embryos with 1 single altered chromosome represented 40.10%, with 2 altered chromosomes, it was 13.10%, with changes in 3 chromosomes, and it was 13.10%. Embryos with 4 or more altered chromosomes were classified as complexes representing 19.70%. Trisomy 16 was the most frequent alteration. Chromosome 22 showed the most changes.

Conclusion: The most common indications were maternal age, screening for aneuploidies and implantation failure. The rate of abnormal embryos increases significantly in the group of patients aged 40 years and over. The main changes found were aneuploidies 82.41%, followed by structural changes 13.18%, linked to gene diseases, representing 4.39%. Among aneuploidies, there was a higher prevalence of trisomy 16, followed by trisomy 15, monosomy X and monosomy 22.