Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Analysis of a Preimplantation Genetic Test for Aneuploidies in Embryos from Colombian Couples: A Report of Cases

Authors
Diana Cárdenas-Nieto 1
Maribel Forero-Castro 1
Harold Moreno-Ortiz 2
Elkin Lucena-Quevedo 3
Juliana Cuzzi 4
Clara Esteban-Pérez 2
1 Biological Sciences Department, Biomedical Sciences Research Group, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia
2 Biological Sciences Department, Biomedical Sciences Research Group, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia; Fertility and Sterility Colombian Center (CECOLFES), Bogotá, Colombia
3 Fertility and Sterility Colombian Center (CECOLFES), Bogotá, Colombia
4 Genesis Genetics Brasil, Laboratory PGD, Sao Paulo, Brazil
Abstract
Background: Assisted reproduction techniques (ARTs) and the preimplantation genetic test for aneuploidies (PGT-A) help couples with fertility problems to achieve a healthy live birth around the world. The aim of this study was to determine the rate of whole chromosomal copy number variations in embryos from couples undergoing ART and PGT-A, associations of chromosomal variations with embryo morphological parameters, and their relationship to maternal age. Methods: This study included a retrospective analysis of the number of whole chromosomal copies identified by aCGH in embryos from couples undergoing ART. Results: Seventy-six embryos from 29 couples using their own gametes were analyzed, of which 25 (32.9%) were chromosomally normal, and 51 (67.1%) were abnormal. Eleven embryos were evaluated from the group of couples with donated gametes, of which 5 (45.4%) embryos were chromosomally normal, and 6 (54.5%) embryos were abnormal. The main aneuploidies observed were trisomy X (7.8%), trisomy 21 (5.9%), trisomy 9 (3.9%), monosomy 11 (3.9%), monosomy 13 (3.9%) and monosomy X (3.9%), and the principal chromosomes affected were 19, X and 13. A significant association was found between the quality of the embryo and the genetic condition: embryos with euploidy and aneuploidy (p=0.046). Conclusion: The rate of aneuploidies from couples with their own gametes was 67.1% (51/76) and from couples with donated eggs and / or sperm was 54.5% (6/11). The quality of the embryo determinated by the morphological parameters was not associated with the embryo genetic status, and also there was no association between maternal age and aneuploidy rate.
Keywords
aCGH
Assisted reproduction techniques (ARTs)
Copy number variations
Preimplantation genetic test for aneuploidies (PGT
a)
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Journal of Reproduction & Infertility
Volume 21, Issue 1
Winter 2020
Pages 17-33