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Preimplantation Genetic Testing for Monogenic Disorders
Genes ( IF 3.5 ) Pub Date : 2020-07-31 , DOI: 10.3390/genes11080871
Martine De Rycke 1 , Veerle Berckmoes 1
Affiliation  

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

中文翻译:

单基因疾病的植入前基因检测

尽管对单个或少数细胞进行基因检测颇具挑战性,但胚胎植入前基因检测 (PGT) 已发展成为侵入性产前诊断的成熟替代方案。PGT-M 理论上可用于任何已明确确定致病基因座的单基因疾病。在实践中,允许 PGT 的适应症列表可能因国家/地区而异,具体取决于 PGT 法规。从技术上讲,从多重 PCR 转向稳健的通用工作流程,全基因组扩增,然后是 SNP 阵列或 NGS,代表了过去十年的重大改进:由于可以省略定制的临床前检查,夫妇的等待时间已大大减少,并且实验室的工作量有所减少。另一个演变是通用方法现在允许同时分析 PGT-M 和 PGT-A。随着创新算法的开发和测序成本的不断下降,PGT领域正在向基于测序的PGT-M、PGT-SR和PGT-A一体化解决方案迈进。这将产生大量复杂的遗传数据,给遗传咨询带来新的挑战。在这篇评论中,我们总结了 PGT-M 的最新技术并反思了它的未来。
更新日期:2020-07-31
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