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Review
. 2024 Oct 4;103(40):e39964.
doi: 10.1097/MD.0000000000039964.

Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Shaozhe Yang  1   2 , Bo Xu  1   2 , Yuan Zhuang  1   2 , Qingwei Zhang  1   2 , Junfeng Li  1   2 , Xiuhong Fu  1   2
Affiliations
Review

Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Shaozhe Yang et al. Medicine (Baltimore). .

Abstract

Noninvasive preimplantation genetic testing (ni-PGT) is conducted by obtaining genetic information from embryos through the analysis of free DNA released by embryos in spent embryo culture medium or blastocoel fluid. Compared to conventional preimplantation genetic testing relying on trophectoderm biopsy, ni-PGT is characterized by its noninvasiveness. It has demonstrated early advancements in the detection of embryonic chromosomal aneuploidies and the diagnosis of monogenic diseases, showcasing considerable potential for clinical application. However, there are substantial controversies in the literature concerning the reliability of ni-PGT, the source of cell-free DNA, and maternal contamination. This paper elaborates on the principles, research advancements, effectiveness, and limitations of ni-PGT to provide a basis for clinical applications.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

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