Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities

Antonio Capalbo, Filippo Maria Ubaldi, Laura Rienzi, Richard Scott, Nathan Treff

Hum. Reprod. (2016) doi: 10.1093/humrep/dew250 – Received April 16, 2016, Revision received September 8, 2016, Accepted September 12, 2016, First published online: October 13, 2016


Embryonic mosaicism, defined as the presence of karyotypically distinct cell lines within an embryo, has been frequently reported with a high incidence in preimplantation embryos derived from IVF and is thought to be one of the major biological limitations for the routine application of PGD for aneuploidies (PGD-A). The incidence of mosaicism in preimplantation embryos is in fact reported to be between 4 and 90%. However, these data are in sharp contrast with what is known from clinical pregnancies, where true foetal mosaicism is observed in less than 0.5% of cases. Here, we challenge these previous observations in preimplantation embryos, presenting an alternative perspective, which also considers the impact of technical variation to diagnose mosaicism as one possible cause contributing to overestimation of the incidence of mosaicism in embryos. Although euploid/aneuploid mosaicism may be present in blastocysts, the possibility of detecting this phenomenon within a single trophectoderm biopsy represents a contemporary challenge to bring about improvement to the practice of PGD-A. The purpose of this opinion paper is to provide a critical review of the literature, provide a possible alternative interpretation of the data, and discuss future challenges with diagnosing mosaicism in PGD-A cycles.

Key words: chromosomal abnormalities, mosaicism, embryo selection, PGD, PGS, IVF, ICSI outcome