Edgard Sánchez-Pavón, Hector Mendoza, Javier Garcia-Ferreyra
JBRA Assist. Reprod. 2022; 26 (1):129-141
Received December 16, 2020
Accepted June 20, 2021
Abstract
Trisomy 21 is the aneuploidy most commonly observed in human reproduction, and is responsible for spontaneous abortions, abnormal neural development and other pathologies associated with newborn development. Among the causes of trisomy 21 is advanced maternal age as an important risk factor; but also includes paternal age and epigenetics. Assisted reproduction technologies (ART) have emerged in recent years as a safe alternative for couples with fertility problems. However, these techniques, which includes controlled ovarian stimulation (COS), in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) and vitrification, are still in the experimental stage and may represent an invasive risk for the embryo and, as such, may produce genetic alterations that can result in aneuploidies incompatible with life, like trisomy 21. The following work aims to review and discuss the available literature on trisomy 21 in the field assisted human reproduction.