Skip to main content
SpringerLink
Log in

Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The purpose of this study is to review recurrent pregnancy loss (RPL) due to sperm chromosomal abnormalities and discuss the genetic counseling that is required for men with sperm chromosomal abnormalities.

Method

The literature was reviewed, and a genetic counselor lends her expertise as to how couples with RPL and sperm chromosomal abnormalities ought to be counseled. The review of the literature was performed using MEDLINE.

Results

Sperm fluorescence in situ hybridization (FISH) can be used to determine if disomy or unbalanced chromosomal translocations are present. In men with aneuploidy in sperm or who carry a chromosomal translocation, pre-implantation genetic screening (PGS) combined with in vitro fertilization (IVF) and intra-cytoplasmic sperm injection (ICSI) can increase chances of live birth. In men with abnormal sperm FISH results, the degree of increased risk of abnormal pregnancy remains unclear. Genetic counselors can provide information to couples about the risk for potential trisomies and sex chromosome aneuploidies and discuss their reproductive and testing options such as PGS, use of donor sperm, and adoption. The provision of genetic counseling also allows a couple to be educated about recommended prenatal testing since pregnancies conceived with a partner who has had abnormal sperm FISH are considered to be at increased risk for aneuploidy.

Conclusion

We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Chandra A, Martinez GM, Mosher WD, Abma JC, Jones J. Fertility, family planning, and reproductive health of U.S. women: data from the 2002 National Survey of Family Growth. Vital Health Stat. 2005;23(25):1–160.

    Google Scholar 

  2. Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev Obstetrics Gynecol. 2009;2(2):76–83.

    Google Scholar 

  3. Medicine PCotASfR. Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertil Steril. 2013;99(1):63. doi:10.1016/j.fertnstert.2012.09.023.

    Article  Google Scholar 

  4. Burrello N, Vicari E, Shin P, Agarwal A, De Palma A, Grazioso C, et al. Lower sperm aneuploidy frequency is associated with high pregnancy rates in ICSI programmes. Hum Reprod. 2003;18(7):1371–6.

    Article  PubMed  Google Scholar 

  5. Hwang K, Weedin JW, Lamb DJ. The use of fluorescent in situ hybridization in male infertility. Ther Adv Urol. 2010;2(4):157–69. doi:10.1177/1756287210373758.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Nicopoullos JDM, Gilling-Smith C, Almeida PA, Homa S, Nice L, Tempest H, et al. The role of sperm aneuploidy as a predictor of the success of intracytoplasmic sperm injection? Hum Reprod. 2008;23(2):240–50. doi:10.1093/humrep/dem395.

    Article  CAS  PubMed  Google Scholar 

  7. Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, et al. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14(5):1266–73. doi:10.1093/humrep/14.5.1266.

    Article  CAS  PubMed  Google Scholar 

  8. Rubio C, Gil-Salom M, Simón C, Vidal F, Rodrigo L, Mínguez Y, et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Hum Reprod. 2001;16(10):2084–92.

    Article  CAS  PubMed  Google Scholar 

  9. Ramasamy R, Besada S, Lamb DJ. Fluorescent in situ hybridization of human sperm: diagnostics, indications, and therapeutic implications. Fertil Steril. 2014;102(6):1534–9. doi:10.1016/j.fertnstert.2014.09.013.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Collodel G, Giannerini V, Antonio Pascarelli N, Federico MG, Comodo F, Moretti E. TEM and FISH studies in sperm from men of couples with recurrent pregnancy loss. Andrologia. 2009;41(6):352–60. doi:10.1111/j.1439-0272.2009.00936.x.

    Article  CAS  PubMed  Google Scholar 

  11. Vidal F, Blanco J, Egozcue J. Chromosomal abnormalities in sperm. Mol Cell Endocrinol. 2001;183(Supplement 1):S51–S4. doi:10.1016/S0303-7207(01)00579-2.

    Article  CAS  PubMed  Google Scholar 

  12. Hwang K, Lipshultz LI, Lamb DJ. Use of diagnostic testing to detect infertility. Curr Urol Rep. 2011;12(1):68–76. doi:10.1007/s11934-010-0154-0.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Ramasamy R, Scovell JM, Kovac JR, Cook PJ, Lamb DJ, Lipshultz LI. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertil Steril. 2015;103(4):906–9.e1. doi:10.1016/j.fertnstert.2015.01.029.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A, et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod. 2002;17(10):2600–14.

    Article  CAS  PubMed  Google Scholar 

  15. Lipshultz LI, Howards SS, Niederberger CS, editors. Infertility in the male. 4th ed. Cambridge: Cambridge University Press; 2009.

  16. Practice Committee of the American Society for Reproductive M. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril. 2012;98(5):1103–11. doi:10.1016/j.fertnstert.2012.06.048.

    Article  Google Scholar 

  17. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod. 2002;17(2):446–51.

    Article  CAS  PubMed  Google Scholar 

  18. Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14(8):2097–101.

    Article  CAS  PubMed  Google Scholar 

  19. Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M. Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles. Eur J Hum Genet. 2012;20(4):376–80. doi:10.1038/ejhg.2011.208.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73(6):1209–18.

    Article  PubMed  Google Scholar 

  21. Kohn TP, Clavijo R, Ramasamy R, Hakky T, Candrashekar A, Lamb DJ, et al. Reproductive outcomes in men with karyotype abnormalities: case report and review of the literature. Can Urol Assoc J = Journal de l’Association des urologues du Canada. 2015;9(9–10):E667–70. doi:10.5489/cuaj.2902.

    Article  PubMed  Google Scholar 

  22. Rubio C, Buendía P, Rodrigo L, Mercader A, Mateu E, Peinado V, et al. Prognostic factors for preimplantation genetic screening in repeated pregnancy loss. Reprod Biomed Online. 2009;18(5):687–93.

    Article  PubMed  Google Scholar 

  23. Pastuszak AW, Lamb DJ. The genetics of male fertility—from basic science to clinical evaluation. J Androl. 2012;33(6):1075–84. doi:10.2164/jandrol.112.017103.

    Article  CAS  PubMed  Google Scholar 

  24. Baarends WM, van der Laan R, Grootegoed JA. DNA repair mechanisms and gametogenesis. Reproduction. 2001;121(1):31–9.

    Article  CAS  PubMed  Google Scholar 

  25. Egozcue J, Sarrate Z, Codina-Pascual M, Egozcue S, Oliver-Bonet M, Blanco J, et al. Meiotic abnormalities in infertile males. Cytogenet Genome Res. 2005;111(3-4):337–42. doi:10.1159/000086907.

    Article  CAS  PubMed  Google Scholar 

  26. Martin RH. Meiotic chromosome abnormalities in human spermatogenesis. Reprod Toxicol. 2006;22(2):142–7. doi:10.1016/j.reprotox.2006.03.013.

    Article  CAS  PubMed  Google Scholar 

  27. Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod. 1999;14(5):1151–6.

    Article  CAS  PubMed  Google Scholar 

  28. Sarrate Z, Blanco J, Anton E, Egozcue S, Egozcue J, Vidal F. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling. Asian J Androl. 2005;7(3):227–36. doi:10.1111/j.1745-7262.2005.00061.x.

    Article  CAS  PubMed  Google Scholar 

  29. Walschaerts M, Bujan L, Parinaud J, Mieusset R, Thonneau P. Treatment discontinuation in couples consulting for male infertility after failing to conceive. Fertil Steril. 2013;99(5):1319–23. doi:10.1016/j.fertnstert.2012.11.035.

    Article  PubMed  Google Scholar 

  30. De Domenico R, Faraci M, Hyseni E, Di Prima FAF, Valenti O, Monte S, et al. Increased nuchal translucency in normal karyotype fetuses. J Prenat Med. 2011;5(2):23–6.

    PubMed  PubMed Central  Google Scholar 

  31. American College of O, Gynecologists. ACOG practice bulletin no. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459–67. doi:10.1097/01.AOG.0000291570.63450.44.

    Article  Google Scholar 

  32. American College of O, Gynecologists Committee on G. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122(6):1374–7. doi:10.1097/01.AOG.0000438962.16108.d1.

    Article  Google Scholar 

  33. Ohlander S, Hotaling J, Kirshenbaum E, Niederberger C, Eisenberg ML. Impact of fresh versus cryopreserved testicular sperm upon intracytoplasmic sperm injection pregnancy outcomes in men with azoospermia due to spermatogenic dysfunction: a meta-analysis. Fertil Steril. 2014;101(2):344–9. doi:10.1016/j.fertnstert.2013.10.012.

    Article  PubMed  Google Scholar 

  34. Practice Committee of the American Society for Reproductive M. Preimplantation genetic testing: a practice committee opinion. Fertil Steril. 2008;90(5 Suppl):S136–43. doi:10.1016/j.fertnstert.2008.08.062.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Baylor College of Medicine, Houston, TX, USA

    Taylor P. Kohn & Jaden R. Kohn

  2. Molecular and Human Genetics Clinical Program, Baylor College of Medicine, Houston, TX, USA

    Sandra Darilek

  3. Department of Urology, Miller School of Medicine, University of Miami, Miami, FL, USA

    Ranjith Ramasamy

  4. Scott Department of Urology, Baylor College of Medicine, 6624 Fannin Street Suite 1700, Houston, TX, 77030, USA

    Larry Lipshultz

Authors
  1. Taylor P. Kohn
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jaden R. Kohn
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sandra Darilek
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ranjith Ramasamy
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Larry Lipshultz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Larry Lipshultz.

Additional information

Capsule We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kohn, T.P., Kohn, J.R., Darilek, S. et al. Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy. J Assist Reprod Genet 33, 571–576 (2016). https://doi.org/10.1007/s10815-016-0702-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-016-0702-8

Keywords

Search

Navigation