关键词: PGT-M; PGT-A Preimplantation genetic diagnosis Preimplantation genetic screening Preimplantation genetic testing

Mesh : Pregnancy Female Humans Genetic Testing / methods Preimplantation Diagnosis / methods Embryo Implantation Fertilization in Vitro Aneuploidy

来  源:   DOI:10.1007/s00404-024-07370-z

Abstract:
BACKGROUND: Preimplantation genetic testing (PGT), also referred to as preimplantation genetic diagnosis (PGD), is an advanced reproductive technology used during in vitro fertilization (IVF) cycles to identify genetic abnormalities in embryos prior to their implantation. PGT is used to screen embryos for chromosomal abnormalities, monogenic disorders, and structural rearrangements.
UNASSIGNED: Over the past few decades, PGT has undergone tremendous development, resulting in three primary forms: PGT-A, PGT-M, and PGT-SR. PGT-A is utilized for screening embryos for aneuploidies, PGT-M is used to detect disorders caused by a single gene, and PGT-SR is used to detect chromosomal abnormalities caused by structural rearrangements in the genome.
OBJECTIVE: In this review, we thoroughly summarized and reviewed PGT and discussed its pros and cons down to the minutest aspects. Additionally, recent studies that highlight the advancements of PGT in the current era, including their future perspectives, were reviewed.
CONCLUSIONS: This comprehensive review aims to provide new insights into the understanding of techniques used in PGT, thereby contributing to the field of reproductive genetics.
摘要:
背景:植入前基因检测(PGT),也称为植入前遗传学诊断(PGD),是在体外受精(IVF)周期中使用的一种先进的生殖技术,用于在胚胎植入之前识别胚胎中的遗传异常。PGT用于筛查胚胎染色体异常,单基因疾病,和结构重组。
在过去的几十年里,PGT经历了巨大的发展,产生三种主要形式:PGT-A,PGT-M,和PGT-SR。PGT-A用于筛选胚胎的非整倍体,PGT-M用于检测由单个基因引起的疾病,PGT-SR用于检测由基因组结构重排引起的染色体异常。
目的:在这篇综述中,我们彻底总结和回顾了PGT,并讨论了其利弊,直至最细微的方面。此外,最近的研究强调了PGT在当前时代的进步,包括他们未来的观点,被审查了。
结论:这篇全面的综述旨在为对PGT中使用的技术的理解提供新的见解,从而为生殖遗传学领域做出贡献。
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