Reproductive Immunology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
J Gynecol Obstet Hum Reprod. 2020 May;49(5):101723. doi: 10.1016/j.jogoh.2020.101723. Epub 2020 Feb 26.
A significant proportion of clinically recognized pregnancies end in miscarriage. About 50 % of early pregnancy losses are due to chromosome abnormalities. In assisted reproduction technology (ART), a high proportion of top-quality embryos with morphological values are aneuploid whenever they have been evaluated in terms of genetic integrity in human preimplantation embryos either from in vitro or in vivo matured oocytes. It is plausible to think of preimplantation genetic testing (PGT) as a means of increasing pregnancy rates and minimizing the risk of fetal aneuploidy. It is believed that PGT will assume a prominent role in the field of ART, especially in a successful pregnancy, so it is embraced recently as a popular diagnostic technique. The PGT includes three sub-categories of PGT for aneuploidies (PGT-A), PGT for single gene / monogenic disorders (PGT-M), and PGT for chromosome structural rearrangements (PGT-SR). PGT-A is used to detect aneuploidies and previously it was known as PGS. PGT-M, formerly known as PGD, is intended to reduce monogenic defects. Previously known as PGS translocation, PGT-SR is PGT to identify structural chromosomal rearrangements. Since many of the old and new definitions for PGT are still vague and confusing for some researchers in the field of reproductive genetics, the main purpose of this study is to introduce all PGT classifications as well as elaborate on different aspects of this technology to improve ART outcomes.
相当一部分临床认可的妊娠以流产告终。大约 50%的早期妊娠丢失是由于染色体异常。在辅助生殖技术（ART）中，无论从体外或体内成熟卵母细胞中评估人类胚胎的遗传完整性如何，具有形态学价值的优质胚胎中，有很大比例是染色体非整倍体。可以认为胚胎植入前遗传学检测（PGT）是提高妊娠率和降低胎儿非整倍体风险的一种手段。人们相信 PGT 将在 ART 领域中扮演重要角色，尤其是在成功妊娠方面，因此最近它被作为一种流行的诊断技术而被广泛接受。PGT 包括三种亚类：非整倍体 PGT（PGT-A）、单基因/单基因疾病 PGT（PGT-M）和染色体结构重排 PGT（PGT-SR）。PGT-A 用于检测非整倍体，以前称为 PGS。PGT-M，以前称为 PGD，旨在减少单基因缺陷。以前称为 PGS 易位，PGT-SR 是用于识别结构染色体重排的 PGT。由于生殖遗传学领域的一些研究人员对 PGT 的许多新旧定义仍然模糊和混淆，本研究的主要目的是介绍所有 PGT 分类，并详细阐述该技术的不同方面，以改善 ART 结果。
