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基于新一代测序的胚胎植入前非整倍体遗传学检测(PGT-A):来自沙特阿拉伯的首次报告。

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia.

机构信息

King Abdullah International Medical Research Center (KAIMRC), Medical Genomics Research Department, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.

Reproductive Endocrinology and Infertility Unit, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.

出版信息

Genes (Basel). 2021 Mar 24;12(4):461. doi: 10.3390/genes12040461.

Abstract

Recently, high-throughput next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies techniques came into use. This technique is essential for successful embryo transfer and accomplishing pregnancy, thus reducing the time and cost of additional cycles. In this study, we describe our first experience in introducing an NGS-based preimplantation genetic testing for aneuploidy (PGT-A) service using next-generation sequencing in King Abdulaziz Medical City located in Riyadh, Saudi Arabia. Our main goal was to report the successful implementation of this new technology in clinical practice and highlight the factors that may affect the results. In total, 200 blastomere biopsies were obtained from 36 in vitro fertilization (IVF) cycles from Saudi couples suffering from prolonged infertility or recurrent embryo transfer failure. NGS-based PGT-A was performed in all embryos. The results were analyzed in five age groups, showing that aneuploidy rates increased with maternal age. Moreover, the results also showed that complex abnormal embryos with (2-5) aneuploidy are the most common type of embryos. Additionally, our data showed that chromosome 16-related abnormality was the most frequent abnormality detected among all reported abnormalities. In conclusion, our study suggests that NGS-based PGT-A is an applicable and reliable technique for routine-based embryo screening, especially for couples suffering from recurrent miscarriages or multiple embryo transfer failures.

摘要

最近,高通量下一代测序(NGS)为基础的胚胎植入前非整倍体检测技术已经投入使用。这项技术对于成功的胚胎移植和实现妊娠至关重要,从而减少了额外周期的时间和成本。在这项研究中,我们描述了我们在沙特阿拉伯利雅得的阿卜杜勒阿齐兹国王医疗城引入基于 NGS 的胚胎植入前非整倍体检测(PGT-A)服务的首次经验。我们的主要目标是报告这项新技术在临床实践中的成功实施,并强调可能影响结果的因素。共有 36 个体外受精(IVF)周期的 200 个卵裂球活检来自沙特夫妇,他们患有长期不孕或反复胚胎移植失败。所有胚胎均进行了基于 NGS 的 PGT-A。结果在五个年龄组中进行了分析,显示出非整倍体率随着母体年龄的增加而增加。此外,结果还显示,具有(2-5)个非整倍体的复杂异常胚胎是最常见的胚胎类型。此外,我们的数据表明,染色体 16 相关异常是所有报道的异常中最常见的异常。总之,我们的研究表明,基于 NGS 的 PGT-A 是一种适用于常规胚胎筛选的可靠技术,特别是对于反复流产或多次胚胎移植失败的夫妇。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/8063787/9d35cc7354e7/genes-12-00461-g001.jpg

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