Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations

As preimplantation genetic screening technology has evolved, detection of segmental chromosomal imbalances and embryonic mosaicism have become possible and provide answers to technologic challenges for the field.

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Volume 107, Issue 1, Pages 27-31


Nathan R. Treff, Ph.D., T.S. (A.B.B.), Jason M. Franasiak, M.D.


Whole-chromosome aneuploidy screening has become a common practice to improve outcomes and decrease embryonic transfer order in patients undergoing treatment for infertility through in vitro fertilization. Despite implementation of this powerful technology, a significant percentage of euploid embryos fail to result in successful deliveries. As technology has evolved, detection of subchromosomal imbalances and embryonic mosaicism has become possible, and these serve as potential explanations for euploid embryo transfer failures. Cases involving a parent with a balanced translocation provide a unique opportunity to characterize the capabilities and limitations of detecting segmental imbalances with a variety chromosome screening platforms. Adaptation of these methods to de novo imbalances now represent an ongoing challenge in the field of preimplantation genetic screening as additional factors including mosaicism, clinical predictive value, and distinguishing true imbalances from technical artifacts must be more carefully considered.

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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. 


Go to the profile of Steven Young
over 4 years ago

Really enjoyable read. Such a well-focused, concise, but mechanistic description of some limitations and unknowns surrounding embryonic chromosomal testing. 

Go to the profile of Jason Franasiak
over 4 years ago

Thank you so much for your comment. This is certainly an important issue facing the field and there are many groups focused on finding the right answer and the right way to interpret the data.