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Chromosomal abnormalities in patients with infertility

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Abstract

The results of cytogenetic studies of 3414 patients with infertility (1741 women and 1673 men) were analyzed retrospectively to estimate the frequency and types of chromosomal abnormalities in infertile patients. Chromosomal abnormalities were detected in 2.37% of cases (81/3414), corresponding to an abnormality frequency of 2.79% among men and 1.95% among women. Balanced structural chromosomal rear-rangements were predominant in the studied group, constituting 80.2% of all chromosomal abnormalities. Gonosomal abnormalities comprised 23.5% of the detected chromosomal pathology (19/81) and were presented by gonosomal aneuploidies in 84% of cases (16/19) and structural rearrangements of chromosome Y in 16% of cases (3/19). The frequency of sex chromosome low level mosaicism was 0.55%. Our results highlight the importance of cytogenetic studies in patients with infertility before the start of infertility treatment programs with assisted reproduction techniques, since the detection of chromosomal abnormalities makes it possible to identify infertility etiology as well as change the treatment approaches.

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References

  1. Yuz’ko, O.M. and Yuz’ko, T.A., Assisted reproduction techniques in infertility treatment in Ukraine, Zhin. Likar, 2010, vol. 2, no. 2, pp. 30–34.

    Google Scholar 

  2. Dakhno, V.F., Infertility in Ukraine: current state of art, Zdorovya Ukrainy, 2011, p. 10.

    Google Scholar 

  3. Dul, E.C., Groen, H., van Ravenswaaij-Arts, C.M., et al., The prevalence of chromosomal abnormalities in subgroups of infertile men, Hum. Reprod., 2012, vol. 27, no. 1, pp. 36–43.

    Article  CAS  PubMed  Google Scholar 

  4. Liang, P., Zeng, Y., Yin, B., et al., Study of the incidence of chromosomal abnormalities in 10325 infertility patients who resort to IVF/ICSI, Fertil. Steril., 2009, vol. 92, no. 3, pp. 14–15.

    Article  Google Scholar 

  5. Alkhalaf, M. and Al-Shoumer, K., Cytogenetic abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait, J. Mol. Genet. Med., 2010, vol. 4, no. 2, pp. 232–234.

    PubMed Central  CAS  PubMed  Google Scholar 

  6. Tavokina, L.V., Baranova, E.V., and Sopko, N.V., The most frequent chromosomal abnormalities in karyotypes of patients with reproductive disorders, Cytol. Genet., 2007, vol. 41, no. 4, pp. 237–242.

    Article  Google Scholar 

  7. Nielsen, J. and Wohlert, M., Chromosome abnormalities found among 34910 newborn children: results from 13-year incidence study in Arhus, Denmark, Hum. Genet., 1991, vol. 87, no. 1, pp. 81–83.

    Article  CAS  PubMed  Google Scholar 

  8. Kunathikov, S., Makemaham, O., Suksompong, S., and Laokirkkiat, P., Chromosomal analysis of “failedfertilized” human oocytes resulting from in-vitro fertilization and intracytoplasmic sperm injection, J. Med. Ass. Tai, 2001, vol. 84, no. 4, pp. 532–538.

    Google Scholar 

  9. Ma, S., Kalousek, D.K., Yuen, B.H., et al., Chromosome investigation in in vitro fertilization failure, J. Assist. Reprod. Genet., 1994, vol. 11, no. 9, pp. 445–451.

    Article  CAS  PubMed  Google Scholar 

  10. Sonta, S., Contribution of chromosomal imbalance to sperm selection and pre-implantation loss in translocation-heterozygous Chinese hamsters, Cytogenet. Genome Res., 2004, vol. 104, no. 1, pp. 261–270.

    Article  CAS  PubMed  Google Scholar 

  11. Georgiou, I., Syrrou, M., Pardalidis, N., et al., Genetic and epigenetic risks of intracytoplasmic sperm injection method, Asian J. Androl., 2006, vol. 8, no. 6, pp. 643–673.

    Article  PubMed  Google Scholar 

  12. Lipshultz, L. and Lamb, D.J., Risk of transmission of genetic diseases by assisted reproduction, Nat. Clin. Pract. Urol., 2007, vol. 4, no. 9, pp. 460–466.

    Article  PubMed Central  PubMed  Google Scholar 

  13. Zerova-Lyubimova, T.E. and Gorovenko, N.G., Cytogenetic Approaches in Chromosomal Studies: Guidelines, Kyiv, 2003.

    Google Scholar 

  14. ISCN, An International System for Human Cytogenetic Nomenclature, Shaffer, L.G., Mc-Gowan-Jordan, J., and Schmid, M., Basel: Karger, 2013.

  15. Saxena, S., Desai, K., Shewale, L., et al., Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure, Reprod. Biomed. Online, 2012, vol. 25, no. 2, pp. 209–218.

    Article  Google Scholar 

  16. Kayed, H.F., Mansour, R.T., Aboulghar, M.A., et al., Screening for chromosomal abnormalities in 2650 infertile couples undergoing ICSI, Reprod. Biomed. Online, 2006, vol. 12, no. 3, pp. 359–370.

    Article  PubMed  Google Scholar 

  17. Clementini, E., Palka, C., Iezzi, I., et al., Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques, Hum. Reprod., 2005, vol. 20, no. 2, pp. 437–442.

    Article  CAS  PubMed  Google Scholar 

  18. Peschka, B., Leygraaf, J., van der Ven, K., et al., Types and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection, Hum. Reprod., 1999, vol. 14, no. 9, pp. 2257–2263.

    Article  CAS  PubMed  Google Scholar 

  19. Gekas, J., Thepot, F., Turleau, C., et al., Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men, Hum. Reprod., 2001, vol. 16, no. 1, pp. 82–90.

    Article  CAS  PubMed  Google Scholar 

  20. Iyer, P., Wani, L., Joshi, S., et al., Cytogenetic investigations in couples with repeated miscarriages and malformed children: report of a novel insertion, Reprod. Biomed. Online, 2007, vol. 14, no. 3, pp. 314–321.

    Article  PubMed  Google Scholar 

  21. Fryns, J. and van Buggenhaut, G., Structural chromosome rearrangements in couples with recurrent fetal wastage, Eur. J. Obstet. Gynecol. Reprod. Biol., 1998, vol. 81, no. 2, pp. 171–176.

    Article  CAS  PubMed  Google Scholar 

  22. Papanikolaou, E.G., Vernaeve, V., Kolibianakis, E., et al., Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? Hum. Reprod., 2005, vol. 20, no. 10, pp. 2899–28903.

    Article  CAS  PubMed  Google Scholar 

  23. Pylyp, L.Y., Spinenko, L.O., Verhoglyad, N.V., and Zukin, V.D., Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia, J. Ass. Reprod. Genet., 2013, vol. 30, no. 5, pp. 729–732.

    Article  Google Scholar 

  24. Kato, T., Kurahashi, H., and Emenual, B.S., Chromosomal translocations and palindromic AT-rich repeats, Curr. Opin. Genet. Dev., 2012, vol. 22, no. 3, pp. 221–228.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  25. Tonnies, H., Stumm, M., Neumann, L., et al., Two further cases of WHS with unbalanced de novo translocation t(4; 8) characterized by CGH and FISH, J. Med. Genet., 2001, vol. 38, no. 6, p. 21.

    Article  Google Scholar 

  26. Kurahashi, H., Inagaki, H., Ohye, T., et al., The constitutional t(11; 22): implications for a novel mechanisms responsible for gross chromosomal rearrangements, Clin. Genet., 2010, vol. 78, no. 4, pp. 299–309.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Ravel, C., Berthaut, I., Bresson, J.L., and Siffroi, J.P., Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10000 sperm donor karyotypes, Hum. Reprod., 2006, vol. 21, no. 6, pp. 1484–1489.

    Article  CAS  PubMed  Google Scholar 

  28. Mau-Holzmann, U.A., Somatic chromosomal abnormalities in infertile men and women, Cytogenet. Genome. Res., 2005, vol. 111, no. 3, pp. 317–336.

    Article  CAS  PubMed  Google Scholar 

  29. Maiburg, M., Repping, S., and Giltay, J., The genetic origin of Klinefelter syndrome and its effect on spermatogenesis, Fertil. Steril., 2012, vol. 98, no. 2, pp. 253–260.

    Article  PubMed  Google Scholar 

  30. Holland, C.M., 47,XXX in an adolescent with premature ovarian failure and autoimmune disease, J. Pediatr. Adolosc. Gynecol., 2011, vol. 14, no. 2, pp. 77–80.

    Article  Google Scholar 

  31. Chantot-Bastaraud, S., Ravel, C., and Siffroi, J.P., Underlying karyotype abnormalities in IVF/ICSI patients, Reprod. Biomed. Online, 2008, vol. 16, no. 14, pp. 514–522.

    Article  CAS  PubMed  Google Scholar 

  32. Voigt, R., Schroder, A.K., Hinrichs, E., et al., Low-level gonosomal mosaicism in women undergoing ICSI cycles, J. Ass. Reprod. Genet., 2004, vol. 21, no. 5, pp. 149–155.

    Article  CAS  Google Scholar 

  33. Sonntag, B., Meschede, D., Ullmann, V., et al., Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome, Hum. Reprod., 2001, vol. 16, no. 8, pp. 1648–1652.

    Article  CAS  PubMed  Google Scholar 

  34. Homer, L., Morel, F., Gallon, F., et al., 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI? Eur. J. Obstet. Gynecol. Reprod. Biol., 2012, vol. 163, no. 1, pp. 47–51.

    Article  CAS  PubMed  Google Scholar 

  35. Anton, E., Vidal, F., and Blanco, J., Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers, Hum. Reprod., 2007, vol. 22, no. 8, pp. 2088–2092.

    Article  CAS  PubMed  Google Scholar 

  36. Alfarawati, S., Fragouli, E., Colls, P., and Wells, D., Embryos of Robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development, PLOS Genet., 2012, vol. 8, no. 10, pp. 342–348.

    Article  Google Scholar 

  37. Machev, N., Gosset, P., Warter, S., et al., Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect, Fertil. Steril., 2005, vol. 82, no. 2, pp. 365–373.

    Article  Google Scholar 

  38. Sugiura-Ogasawara, M., Ozaki, Y., Sato, T., et al., Poor prognosis of recurrent Aborters with either maternal or paternal reciprocal translocations, Fertil. Steril, 2004, vol. 81, no. 2, pp. 367–373.

    Article  PubMed  Google Scholar 

  39. Midro, A.T., Stengel-Rutkowski, S., and Stene, J., Experiences with risk estimates for carriers of chromosomal reciprocal translocations, Clin. Genet., 1992, vol. 41, no. 3, pp. 113–122.

    Article  CAS  PubMed  Google Scholar 

  40. Fiorentino, F., Spizzichino, L., Bono, S., et al., PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization, Hum. Reprod., 2011, vol. 26, no. 7, pp. 1925–1935.

    Article  CAS  PubMed  Google Scholar 

  41. Munne, S., Sandalinas, M., Escudero, T., et al., Outcome of preimplantation genetic diagnosis of translocations, Fertil. Steril., 2000, vol. 73, no. 6, pp. 1209–1218.

    Article  CAS  PubMed  Google Scholar 

  42. Fischer, J., Colls, P., Escudero, T., and Munne, S., Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses, Fertil. Steril., 2010, vol. 91, no. 1, pp. 283–289.

    Article  Google Scholar 

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Authors and Affiliations

  1. Clinic of Reproductive Medicine “Nadiya”, ul. Maksima Krivonosa 19A, Kyiv, 03037, Ukraine

    L. Y. Pylyp, L. O. Spinenko, N. V. Verhoglyad, O. O. Kashevarova & V. D. Zukin

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  1. L. Y. Pylyp
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  2. L. O. Spinenko
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  3. N. V. Verhoglyad
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  4. O. O. Kashevarova
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  5. V. D. Zukin
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Correspondence to L. Y. Pylyp.

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Pylyp, L.Y., Spinenko, L.O., Verhoglyad, N.V. et al. Chromosomal abnormalities in patients with infertility. Cytol. Genet. 49, 173–177 (2015). https://doi.org/10.3103/S009545271503010X

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  • DOI: https://doi.org/10.3103/S009545271503010X

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