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Manuel Viotti, Ph.D., Rajiv C. McCoy, Ph.D., Darren K. Griffin, D.Sc., Francesca Spinella, Ph.D., Ermanno Greco, M.D., Mitko Madjunkov, M.D., Svetlana Madjunkova, M.D., Ph.D., Clifford L. Librach, M.D., Andrea R. Victor, M.S., Frank L. Barnes, Ph.D., and Christo G. Zouves, M.D.
Fertility and Sterility, 2021
Abstract
Chromosomal mosaicism, the coexistence of cells with different chromosomal content, has been documented in human embryos for 3 decades. Early versions of preimplantation genetic testing for aneuploidy (PGT-A) did not measure mosaicism, either because typically only a single cell was assessed or because the technique could not accurately identify it. Although this led to a straightforward diagnosis (an embryo was considered either normal or abnormal), it simply avoided the issue and, in hindsight, may have led to numerous misdiagnoses with negative clinical consequences. Modern PGT-A evaluates a multicellular biopsy specimen with techniques capable of recognizing intermediate copy number signals for chromosomes or subchromosomal regions. We are, therefore, inevitably confronted with the issue of mosaicism and the challenge of managing embryos producing such results in the clinic. Here we discuss recent data showing that not only mosaicism in general, but specific features of mosaicism detected with PGT-A, are associated with variable clinical outcomes. The conclusion is evident: mosaicism should be considered for more informed and improved embryo selection in the clinic.
Keywords: Embryo; IVF; mosaicism; next-generation sequencing (NGS); preimplantation genetic testing
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