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Updated: May 30, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Could metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A
Fabrizzio Horta1, Denny Sakkas2, William Ledger3
1Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia; and Dept O&G, Monash University, Melbourne, Vic, Australia; and Monash Data Future Institute, Monash University, Melbourne, Vic, Australia; and City Fertility, Sydney, NSW, Australia.
Abstract:
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs. Consequently, there has been an increasing focus on developing non-invasive technologies to enhance embryo selection. Such innovations include non-invasive PGT-A, artificial intelligence (AI) algorithms, and non-invasive metabolic imaging. The latter measures cellular metabolism through autofluorescence of metabolic cofactors. Notably, hyperspectral microscopy and fluorescence lifetime imaging microscopy (FLIM) have revealed unique metabolic activity signatures in aneuploid embryos and human fibroblasts. These methods have demonstrated high accuracy in distinguishing between euploid and aneuploid embryos. Thus, this review discusses the clinical challenges associated with PGT-A and emphasizes the need for novel solutions such as metabolic imaging. Additionally, it explores how aneuploidy affects cell behaviour and metabolism, offering an opinion perspective on future research directions in this field of research.

