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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Preimplantation Genetic Testing: Where We Are Today.
Ermanno Greco1,2, Katarzyna Litwicka1, Maria Giulia Minasi1
1Reproductive Medicine, Villa Mafalda, 00199 Rome, Italy.
International Journal of Molecular Sciences
|June 25, 2020
Summary
Preimplantation genetic testing (PGT) helps select euploid embryos in in-vitro fertilization (IVF) to improve pregnancy and live birth rates. This technique is valid for evaluating embryo euploidy and mosaicism before transfer.
Area of Science:
- Reproductive medicine
- Genetics
- Embryology
Background:
- Preimplantation genetic testing (PGT) is a widely adopted technique in in-vitro fertilization (IVF) globally.
- It aims to enhance clinical outcomes, including embryo implantation, clinical pregnancy, and live birth rates, by selecting euploid embryos.
Purpose of the Study:
- To review current knowledge and clinical applications of PGT procedures.
- To illustrate molecular techniques and biopsy stages for PGT.
- To explain embryo mosaicism and its clinical significance.
Main Methods:
- Review of current knowledge on PGT procedures.
- Illustration of molecular techniques for genetic analysis.
- Description of biopsy strategies at different embryonic developmental stages.
Main Results:
- PGT utilizes various molecular techniques for embryo analysis.
- Biopsies can be performed at polar body, cleavage embryo, or blastocyst stages.
- The study details the genetic origin and clinical implications of embryo mosaicism.
Conclusions:
- Preimplantation genetic testing is a validated method for assessing embryo euploidy.
- PGT aids in the evaluation of embryo mosaicism prior to embryo transfer.

