The “mosaic” embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy

Current methods of predicting mosaicism are inaccurate and have led to numerous misinterpretations and misconceptions regarding its clinical significance

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VOLUME 116, ISSUE 5, P1205-1211


Nathan R. Treff, Ph.D., Diego Marin, Ph.D.


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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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. 


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2 months ago

About your Figure 3. It's a very interesting information. We potentially miss informations due to this noise.

We can modify the noise level by using different filters on NGS platform, isn't it ?