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关于植入前基因检测(PGT)-下一代测序(NGS)方法后体外受精(IVF)临床结果的综述

A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach.

作者信息

Doroftei Bogdan, Ilie Ovidiu-Dumitru, Anton Nicoleta, Armeanu Theodora, Ilea Ciprian

机构信息

Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", University Street, no 16, 700115 Iasi, Romania.

Clinical Hospital of Obstetrics and Gynecology "Cuza Voda", Cuza Voda Street, no 34, 700038 Iasi, Romania.

出版信息

Diagnostics (Basel). 2022 Aug 7;12(8):1911. doi: 10.3390/diagnostics12081911.

Abstract

BACKGROUND

PGT-based NGS revolutionized the field of reproductive medicine, becoming an integrated component within current assisted reproductive technology (ART) protocols.

METHODS

We searched the literature published in the last half a decade in four databases (PubMed/Medline, ISI Web of Knowledge, ScienceDirect, and Scopus) between 2018 and 2022.

RESULTS

A total of 1388 articles were filtered, from which 60 met, initially, the eligibility criteria, but only 42 were included (≥100 patients/couples-62,465 patients and 6628 couples in total) in the present mini-review. In total, forty-two (70.0%) reported reproductive outcomes, while eighteen (30.0%) had distinct objectives. Furthermore, = 1, 1.66% of the studies focused on PGT, = 1, 1.66% on pre-implantation genetic testing for monogenic disorders (PGT-M), = 3, 5.0% on pre-implantation genetic testing for structural rearrangements (PGT-SR) and = 55, 91.66% on pre-implantation genetic testing for aneuploidies (PGT-A).

CONCLUSIONS

PGT using NGS proved to be an excellent companion that folds within the current ascending tendency among couples that require specialty care. We strongly encourage future studies to provide a systematic overview expanded at a larger scale on the role of the PGT-NGS.

摘要

背景

基于下一代测序(NGS)的植入前基因检测(PGT)彻底改变了生殖医学领域,成为当前辅助生殖技术(ART)方案中的一个组成部分。

方法

我们检索了2018年至2022年期间在四个数据库(PubMed/Medline、ISI Web of Knowledge、ScienceDirect和Scopus)中发表的近五年的文献。

结果

共筛选出1388篇文章,其中60篇初步符合纳入标准,但本综述仅纳入了42篇(≥100例患者/夫妇,共62465例患者和6628对夫妇)。总共有42篇(70.0%)报告了生殖结局,而18篇(30.0%)有不同的研究目的。此外,1篇(1.66%)研究聚焦于PGT,1篇(1.66%)聚焦于单基因疾病植入前基因检测(PGT-M),3篇(5.0%)聚焦于结构重排植入前基因检测(PGT-SR),55篇(91.66%)聚焦于非整倍体植入前基因检测(PGT-A)。

结论

事实证明,使用NGS的PGT是一个很好的辅助手段,符合当前需要专科护理的夫妇中日益增长的趋势。我们强烈鼓励未来的研究对PGT-NGS的作用进行更大规模的系统综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cae6/9406843/b4497430fee8/diagnostics-12-01911-g001.jpg

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