Cárdenas-Nieto Diana, Forero-Castro Maribel, Moreno-Ortiz Harold, Lucena-Quevedo Elkin, Cuzzi Juliana, Esteban-Pérez Clara
Biological Sciences Department, Biomedical Sciences Research Group, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
Fertility and Sterility Colombian Center (CECOLFES), Bogotá, Colombia.
J Reprod Infertil. 2020 Jan-Mar;21(1):17-33.
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.
This study included a retrospective analysis of the number of whole chromosomal copies identified by aCGH in embryos from couples undergoing ART.
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).
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.
辅助生殖技术（ART）和胚胎植入前非整倍体基因检测（PGT-A）帮助世界各地有生育问题的夫妇实现健康活产。本研究的目的是确定接受ART和PGT-A的夫妇所产生胚胎中全染色体拷贝数变异的发生率、染色体变异与胚胎形态学参数的关联及其与母亲年龄的关系。
本研究对接受ART的夫妇胚胎中通过比较基因组杂交（aCGH）鉴定的全染色体拷贝数进行回顾性分析。
分析了29对使用自身配子的夫妇的76个胚胎，其中25个（32.9%）染色体正常，51个（67.1%）异常。对11对使用捐赠配子的夫妇的胚胎进行了评估，其中5个（45.4%）胚胎染色体正常，6个（54.5%）胚胎异常。观察到的主要非整倍体为X三体（7.8%）、21三体（5.9%）、9三体（3.9%）、11单体（3.9%）、13单体（3.9%）和X单体（3.9%），受影响的主要染色体为19、X和13。发现胚胎质量与遗传状况之间存在显著关联：整倍体胚胎与非整倍体胚胎（p=0.046）。
使用自身配子的夫妇非整倍体发生率为67.1%（51/76），使用捐赠卵子和/或精子的夫妇非整倍体发生率为54.5%（6/11）。由形态学参数确定的胚胎质量与胚胎遗传状态无关，母亲年龄与非整倍体发生率之间也无关联。
