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Research Advances in Non-Invasive Preimplantation Evaluation of Embryonic Chromosomal Aneuploidy

Author(s)

Guangting Hu1, Jiantao Liu1,*, Jia Chen2,*

Affiliation(s)

1School of Life Sciences, Jiangxi Science and Technology Normal University, Nanchang, Jiangxi, China 2Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China *Corresponding Author

Abstract

Chromosomal aneuploidy is one of the leading causes of miscarriage. Preimplantation genetic testing for aneuploidy (PGT-A) can reduce this risk. However, all existing clinical approaches are based on invasive trophoblast biopsy, which constitutes a complex diagnosis and treatment procedure that carries the risk of embryonic damage and raises concerns regarding the long-term health of the offspring. Detection of cell-free DNA (cfDNA) isolated from blastocyst culture medium and blastocoel fluid enables non-invasive PGT-A (niPGT-A) of embryos. Multiple studies have shown its high accuracy, yet it still awaits clinical validation. Meanwhile, time-lapse imaging and artificial intelligence (AI) can predict embryo ploidy based on embryo morphology, and their performance is also quite remarkable. This review systematically compares these two non-invasive approaches, namely cfDNA-based niPGT-A and AI-based prediction. We analyze the technical bottlenecks of the former (such as cfDNA contamination, amplification bias, inconsistent results, etc.) and the interpretability-acceptability dilemma of the latter, and explore the value and strategies of combining the two methods, aiming to provide guidance for the precise development and clinical application of niPGT-A.

Keywords

Embryonic Chromosomal Aneuploidy; Blastocyst Biopsy; NiPGT-A; Time-lapse Embryo Imaging Technology; Artificial Intelligence

References

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