Geburtshilfe Frauenheilkd 2014; 74 - FV_08_07
DOI: 10.1055/s-0034-1388605

Increased chromosome 16 disomy rates in human spermatozoa associated with recurrent miscarriages

N Rogenhofer 1, M Neusser 2, V von Schönfeldt 1, S Dürl 2, R Ochsenkühn 3, M Trottmann 4, O Steinlein 2, S Müller 2, C Thaler 1
  • 1Klinik und Poliklinik für Frauenheilkunde und Geburtshilfe, Klinikum der Ludwig-Maximilians-Universität, Campus Großhadern, Hormon- und Kinderwunschzentrum, München, Germany
  • 2Ludwig-Maximilians-University, Institute of Human Genetics, München, Germany
  • 3Center for Reproductive Medicine, München, Germany
  • 4Ludwig-Maximilians-University, Department of Urology, München, Germany

Introduction: The male contribution in the aetiology of recurrent spontaneous abortions (RSA) is under debate. “Sperm-FISH” data on RSA-males are rare and limited to chromosomes 13,18,21,X and Y. Nevertheless, current data indicate that these patients may have elevated gonosomal disomy rates as well increased cumulative aneuploidy frequencies in spermatozoa.

We investigated whether unexplained RSA are associated with increased rates of aneuploidy in spermatozoa of RSA-males. As numeric chromosomal aberrations in chromosomes other than 13,18,21,X and Y have been shown to be relevant in pregnancy loss, for the first time, we chose to screen all human chromosomes.

Materials and methods: We examined eleven male partners of a well characterized group of patients suffering from unexplained RSA. Spermatozoa were analysed by using a custom designed FISH. Sperm samples were evaluated for elevated diploidy and disomy levels of chromosomes 1 – 22, X and Y by multicolour “sperm-FISH”.

Results: This study revealed mean disomy rates between 0.04% for chromosome 7 and 0.36% for chromosome 16. Comparing with base-line aneuploidy rates from published reports and from internal control samples, significantly (P < 0,05) elevated mean disomy rates were observed for chromosomes 1, 2, 6, 15 and 16. More than 70% of the patients showed increased disomy rates for three or more chromosomes. The most pronounced finding was revealed for chromosome 16, where significantly increased disomy rates were documented in more than 80% of our patients.

Conclusion: We suggest that aneuploidy screening of sperm samples of “RSA-males” may be beneficial in a comprehensive clinical work-up of recurrent miscarriages.