Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy

Array comparative genomic hybridization analysis of mosaic samples can help determine the detectable level of aneuploidy. Aneuploidy could be confidently called when the level of aneuploid cells in the sample was >50%.

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Thalia Mamas, M.Sc., Anthony Gordon, Ph.D., Anthony Brown, Ph.D., Joyce Harper, Ph.D., Sioban SenGupta, Ph.D.

Volume 97, Issue 4, Pages 943-947



To examine the effect of mosaicism in the array comparative genomic hybridization result during preimplantation genetic screening after blastocyst biopsy.


Experimental study.


University laboratory.


Epithelial cell lines.


Mixing of euploid and aneuploid cells to create mosaic trophectoderm and blastocyst models.

Main Outcome Measure(s):

The level of aneuploidy in samples with different ratios of aneuploid cells was measured after array comparative genomic hybridization.


A shift from normality was present when the level of aneuploid cells in the sample was >25%. Aneuploidy could be confidently called when the level of aneuploid cells was >50%.


This study determined that aneuploidy in mosaic samples can be detected by array comparative genomic hybridization and that the result may also indicate the proportion of the aneuploid cells present in the sample.

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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. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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