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当前时代的植入前基因检测,一篇综述。

Preimplantation genetic testing in the current era, a review.

作者信息

Tian Yafei, Li Mingan, Yang Jingmin, Chen Hongyan, Lu Daru

机构信息

State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.

MOE Engineering Research Center of Gene Technology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200433, China.

出版信息

Arch Gynecol Obstet. 2024 May;309(5):1787-1799. doi: 10.1007/s00404-024-07370-z. Epub 2024 Feb 20.

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.

DEVELOPMENT OF PGT

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.

PURPOSE OF REVIEW

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),也称为植入前基因诊断(PGD),是一种先进的生殖技术,用于体外受精(IVF)周期,在胚胎植入前识别其基因异常。PGT用于筛查胚胎的染色体异常、单基因疾病和结构重排。

PGT的发展:在过去几十年中,PGT经历了巨大的发展,产生了三种主要形式:PGT-A、PGT-M和PGT-SR。PGT-A用于筛查胚胎的非整倍体,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。

综述目的

在本综述中,我们全面总结和回顾了PGT,并深入讨论了其优缺点。此外,还综述了近期突出PGT在当前时代进展的研究,包括其未来展望。

结论

本全面综述旨在为理解PGT中使用的技术提供新的见解,从而为生殖遗传学领域做出贡献。

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