Research progress and prospects of non-invasive preimplantation genetic testing technology
10.3760/cma.j.cn101441-20250206-00049
- VernacularTitle:无创胚胎植入前非整倍体检测技术的研究进展及展望
- Author:
Aomiao HUANG
1
;
Yinfeng ZHANG
;
Cong LIU
;
Ying HAN
;
Haining LUO
Author Information
1. 南开大学医学院，天津 300071
- Publication Type:Journal Article
- Keywords:
Non-invasive preimplantation genetic testing for aneuploidies;
Cell-free DNA;
Single-molecule nanopore DNA sequencing technology;
Next-generation sequenc
- From:
Chinese Journal of Reproduction and Contraception
2025;45(8):846-850
- CountryChina
- Language:Chinese
-
Abstract:
Preimplantation genetic testing for aneuploidy (PGT-A) is a crucial technique currently used to improve embryo implantation rate, reduce miscarriage rate, and shorten the time to pregnancy for patients who are of advanced maternal age (≥35 years), have experienced repeated implantation failures, or have a history of recurrent miscarriages. Conventional PGT-A necessitates an invasive embryo biopsy, which may pose potential risks to subsequent embryo development and long-term health outcomes. Consequently, there is a growing interest among reproductive medicine professionals in developing non-invasive, safe, accurate, and effective methods for assessing embryo chromosomal status and quality. This paper provides an overview of recent advancements in the use of next-generation sequencing for detecting cell-free DNA (cfDNA) in non-invasive preimplantation genetic testing for aneuploidy (niPGT-A). The review highlights both the potential of this approach and its existing limitations. Additionally, the paper proposes a novel hypothesis regarding the application of single-molecule nanopore technology for cfDNA detection in niPGT-A, offering new insights and serving as a reference for future research in this field.
