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Detecting mosaicism in trophectoderm biopsies.


We have read with much interest the opinion paper by Capalbo et al. (2016) recently published in Human Reproduction. Determining the frequency and consequences of blastocyst mosaicism is an important goal of contemporary PGS research that will impact clinical care.


However, inaccurate representation of referenced literature led to biased conclusions that eventually may hamper, rather than advance the field.

The authors argue that single cell array comparative genomic hybridisation (aCGH) yields a high number of technical errors, leading to an overestimation of chromosomal abnormalities in embryos. According to them, the presence of reciprocal abnormalities and meiotic aneuploidies represents the strongest evidence both of mosaicism and of technical accuracy. The authors refer to both papers of Mertzanidou et al. (2013a,b) while they only discuss the first paper (Mertzanidou et al., 2013a) and do not take into account the data on 13 day-four embryos...