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Updated: Aug 11, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Potential roles of extracellular vesicles as a noninvasive tool for prenatal genetic diagnosis
Islam M Saadeldin1, Seif Ehab2, Ayman A Swelum3
1Laboratory of Theriogenology, College of Veterinary Medicine, Chungnam National University, Daejeon, Republic of Korea; Research Institute of Veterinary Medicine, Chungnam National University, Daejeon, Republic of Korea.
Abstract:
The rate of infertility is increasing owing to genetic and environmental factors. Consequently, assisted reproductive technology has been introduced as an alternative. Bearing in mind the global trend toward the transfer of only one embryo, there is an increasing trend for assessing embryo quality before transfer through prenatal genetic diagnosis (PGD) tests. This ensures that the best-quality embryos are implanted into the uterus. In the in vitro fertilization cycle, PGD is not only used for diseases or quality checks before embryo freezing but also for evaluating unfortunate risks, such as aneuploidy, signs of early abortions, and preterm birth. However, traditional preimplantation genetic testing and screening approaches are invasive and harm the health of both the mother and embryo, raising the risk of miscarriage. In the last decade, embryonic extracellular vesicles (EVs) have been investigated and have emerged as a promising diagnostic tool. In this mini-review, we address the use of EVs as a noninvasive biomarker in PGD to test for biological hazards within the embryo without invading its cells. We summarize the state-of-the-art in the use of the embryo's EV content, genomic DNA, messenger RNA, and microRNA in the spent culture medium and their relationship with embryo quality, successful implantation, and pregnancy.

