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Updated: Oct 26, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy
1Genomic Prediction Inc., North Brunswick, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University, New Brunswick, New Jersey.
Abstract:
Preimplantation genetic testing for aneuploidy (PGT-A) remains one of the most controversial topics in reproductive medicine. With more than 40% of in vitro fertilization cycles in the United States reportedly involving PGT, both those in favor of and those opposed to PGT-A have significant interest in the efficacy of PGT-A. Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as "mosaic." This review addresses several misconceptions and misinterpretations of data surrounding the genetic analysis and prediction of mosaicism in the preimplantation embryo.
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