Journal Article

Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility

Luca Gianaroli, M.Cristina Magli, Giorgio Cavallini, Andor Crippa, Marco Nadalini, Luca Bernardini, Giuseppe F. Menchini Fabris, Silvia Voliani and Anna P. Ferraretti

in Human Reproduction

Published on behalf of European Society of Human Reproduction and Embryology

Volume 20, issue 8, pages 2140-2152
Published in print August 2005 | ISSN: 0268-1161
Published online April 2005 | e-ISSN: 1460-2350 | DOI:
Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility

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BACKGROUND: A protocol for the chromosomal analysis of sperm samples with a severely reduced number of sperm cells was designed. METHODS: A severe male factor condition was the main cause of infertility for 38 couples: 27 were oligoasthenoteratospermic (OAT) and 11 with non-obstructive azoospermia underwent testicular sperm extraction (TESE). A two-round fluorescence in situ hybridization (FISH) protocol was performed with probes specific for the chromosomes X, Y, 13, 15, 16, 17, 18, 21 and 22. The recording of the position of each sperm cell at the microscope allowed diagnosis of each spermatozoon for the nine tested chromosomes. RESULTS: A mean number of 122±78.5 sperm were diagnosed per patient with an incidence of total abnormalities corresponding to 13.4%. χ2-tests for the observed frequencies and goodness-of-fit test were highly significant in all cases. A significantly higher proportion of total aneuploidy was detected in 79% of the tested samples compared to the normal population. Testicular sperm were significantly more prone to aneuploidy than ejaculated sperm. CONCLUSIONS: The designed FISH protocol for the analysis of severe OAT and TESE sperm samples is reliable, implying that the studied sample is representative of the original population. In view of the high incidence of aneuploidy in most severe OAT and TESE sperm, the FISH analysis of pathological sperm samples can be routinely performed in order to estimate the chances of the paternal contribution to aneuploidy in the resulting embryos.

Keywords: aneuploidy; disomy; fluorescence in situ hybridization; male factor infertility; preimplantation genetic diagnosis

Journal Article.  8541 words.  Illustrated.

Subjects: Reproductive Medicine

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