Application and development of molecular diagnostic techniques in human assisted reproduction
10.3760/cma.j.cn114452-20220415-00230
- VernacularTitle:分子诊断技术在人类辅助生殖中的应用和发展
- Author:
Xuebing LI
1
;
Yongwei LI
Author Information
1. 河南中医院（河南中医药大学第二附属医院）检验科，郑州 450002
- Keywords:
Molecular diagnostic technology;
Preimplantation genetic testing;
Assisted reproductive technology
- From:
Chinese Journal of Laboratory Medicine
2022;45(5):433-438
- CountryChina
- Language:Chinese
-
Abstract:
In the past few years, with the breakthrough development of DNA sequencing technology, preimplantation genetic testing (PGT) has been widely used as an important part of assisted reproductive technology (ART). The progress of next generation sequencing (NGS) technology and the improvement of resolution, as well as the comprehensive application of molecular diagnostic technology makes it possible to perform the extensive and comprehensive chromosome screening and the clinical valuable detection of small gene fragment missing and repetition simultaneously, which is of great significance in terms of improving the pregnancy rate and reducing the abortion rate, multiplets rate and malformation rate. The common PGT molecular diagnostic techniques involves fluorescence in situ hybridization (FISH), single nucleotide polymorphism array(SNP-array), quantitative polymerase chain reaction(qPCR) and NGS. And each of them has its own highlights in clinical application and there are many uncertainties that are difficult to control. Moreover, ethical concerns brought about by technological progress also need to be addressed.
