Cytogenetic studies in reproductive function disorders: a retrospective analysis

Keywords: infertility, karyotype, chromosome abnormalities


Aim. Fertility disorders are one of the most common problems of reproductive medicine. Chromosomal abnormalities play a crucial role in reproductive failure. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in couples with history of infertility. Methods. Karyotyping was performed in 652 couples with reproductive failure between 2004 and 2022, including 203 couples with primary infertility (PI), 240 couples with recurrent pregnancy loss (RPL) and 209 – with sporadic pregnancy loss (SPL). Results. Numerical and structural karyotype abnormalities were detected in 37 (2.84 %) of 1304 individuals with infertility, most frequently in group with PI – 3.4 % and RPL – 3.3 %. Chromosomal abnormalities were detected in 3.1 % woman and 2.6 % men. The most common cytogenetic abnormalities (26 cases of 37; 2 %) are translocations, reciprocal – 18 cases (1.4 %) and Robertsonian – 8 cases (0.6 %). Numerical and structural gonosomal abnormalities were detected in 9 individuals (0.7 %), supernumerary marker chromosome – in 2 (0.14 %). Conclusions. Karyotype abnormalities are most common in individuals with PI and RPL and a occur with the same frequency among women and men. Numerical gonosomal abnormalities were detected only as mosaic form.


Agarwal A., Mulgund A., Hamada A., Chyatte M. R. A unique view on male infertility around the globe. Reprod Biol Endo-crinol RBE. 2015. Vol. 13. P. 37. doi: 10.1186/s12958-015-0032-1.

Gardner R. J. M., Grant R. Sutherland, Shaffer L. G. Chromosome Abnormalities and Genetic Counseling, 4 ed. Oxford Mono-graphs on Medical Genetics, 2011. 348 p. doi: 10.1093/med/9780195375336.001.0001.

Munne S. Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation. Cytogenet Genome Res. 2005. Vol. 111. P. 305–309. doi: 10.1159/000086904.

Berglund A., Stochholm K., Gravholt C. H. The epidemiology of sex chromosome abnormalities. Am J Med Genet C Semin Med Genet. 2020. Vol. 184 (2). P. 202–215. doi: 10.1002/ajmg.c.31805.

Hook E. B., Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 2014. Vol. 133 (4). P. 417–424. doi: 10.1007/s00439-014-1420-x.

Tuke M. A., Ruth K. S., Wood A. R., Beaumont R. N., Tyrrell J., Jones S. E., Yaghootkar H., Turner C. L. S., Donohoe M. E., Brooke A. M., Collinson M. N., Freathy R. M., Weedon M. N., Frayling T. M., Murray A. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med. 2019. Vol. 21 (4). P. 877–886. doi: 10.1038/s41436-018-0271-6.

Farcas S., Belengeanu V., Popa C., Stoicanescu D., Stoian M., Veliscu M., Munteanu I. Role of chromosomal translocations in recurrent spontaneous abortion. Timisoara Med J. 2007. Vol. 57 (2–3). P. 117–121.

Kim S-R., Shaffer L. G. Robertsonian translocations: mechanism of formation aneuploidy and uniparental disomy and diagnostic considerations. Genet Testing. 2002. Vol. 6. P. 163–168. doi: 10.1089/109065702761403315.

Moorhead P. S., Nowell P. C., Mellman W. J., Battips D. M., Hungerford D. A. Chromosome preparations of leukocytes cul-tured from human peripheral blood. Exp. Cell Res. 1960. Vol. 20. P. 613–616. doi: 10.1016/0014-4827(60)90138-5.

Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971. Vol. 2. P. 971–972. doi: 10.1016/S0140-6736(71)90287-X.

Serapinas D., Valantinavičienė E., Machtejevienė E., Bartkevičiūtė A., Bartkevičienė D. Evaluation of Chromosomal Structural Anomalies in Fertility Disorders. Medicina (Kaunas). 2021. Vol. 57 (1). P. 37. doi: 10.3390/medicina57010037.

Andó S., Koczok K., Bessenyei B., Balogh I., Ujfalusi A. Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study. Genes (Basel). 2022. Vol. 13 (11). P. 2086. doi: 10.3390/genes13112086.

Clementini E., Palka C., Iezzi I., Stuppia L., Guanciali-Franchi P., Tiboni G. M. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005. Vol. 20 (2). P. 437–442. doi: 10.1093/humrep/deh626.