Skip to main content
Log in

Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility

  • Published:
Journal of Endocrinological Investigation Aims and scope Submit manuscript

Abstract

One hundred and thirty-six cycles with a poor prognosis for full-term pregnancy underwent preimplantation genetic diagnosis (PGD) of aneuploidy. The mean maternal age was 31.8±2.5 years. Only patients younger than 36 years were included in the study with the aim of evaluating whether sperm indices have an effect on the chromosomal constitution of preimplantation embryos. No differences were detected in the percentage of aneuploid embryos; however a higher incidence of monosomies and trisomies was found in MESATESE embryos compared to the group of normospermic patients. In addition, an increase in the proportion of gonosomal aneuploidy seemed to be associated with the severity of the male factor parameters. The rate of de-novo chromosomal abnormalities in embryos from patients with a normal karyotype suggested an increased frequency proportional to the severity of the male factor condition, the proportion of monosomic and trisomic embryos, and the percentage of gonosomal aneuploidy increased accordingly. In the case of couples with a male altered karyotype, comparable frequency of chromosomally abnormal embryos, and monosomy and trisomy were observed irrespective of semen indices, gonosomal aneuploidy was only observed in one case where the patient had a karyotype with gonosomal mosaicism. These data confirm that the severe male infertility condition determines an increase in the rate of de-novo abnormalities, as anticipate by the follow-up of the children born after ICSI.

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

Access this article

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

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Engel W., Murphy D., Schmidt M. Are there genetic risks associated with microassisted reproduction? Hum. Reprod. 1996, 11: 2359–2370.

    Article  CAS  PubMed  Google Scholar 

  2. Meschede D., Lemcke B., Exeler J.R., et al. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection-prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 1998, 13: 576–582.

    Article  CAS  PubMed  Google Scholar 

  3. De Braeckeleer M., Dao T.M. Cytogenetic studies in male infertility: a review. Hum. Reprod. 1991, 6: 245–250.

    Google Scholar 

  4. Reijo R., Alagappan R.K., Patrizio P., et al. Severe oligospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996, 347: 1290–1293.

    Article  CAS  PubMed  Google Scholar 

  5. Bonduelle M., Willikens J., Buysse A. Prospective study of 877 children born after intracytoplasmic injection with ejaculated, epididymal and testicular spermatozoa after replacement of cryopreserved embryos obtained after ICSI. Hum. Reprod. 1996, 11 (Suppl. 4): 131–159.

    Article  PubMed  Google Scholar 

  6. Bonduelle M., Aytoz A., Van Assche E., et al. Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection. Hum. Reprod. 1998, 13: 781–782.

    Article  CAS  PubMed  Google Scholar 

  7. Martin R.H., Rademaker A.W., Long-Simpson L., et al. Variation in the frequency and type of the sperm chromosomal abnormalities among normal men. Hum. Genet. 1987, 77: 108–111.

    Article  CAS  PubMed  Google Scholar 

  8. Martin R.H., Spriggs E.L., Ko E. et al. The relationship between paternal age, sex ratios and aneuploidy frequencies in human sperm as assessed by multicolour FISH. Am. J. Hum. Genet. 1995, 57: 1395–1399.

    CAS  PubMed Central  PubMed  Google Scholar 

  9. Gianaroli L., Magli M.C., Munné S., et al. Will preimplantation genetic diagnosis assist patients with a poor prognosis to achieve pregnancy? Hum. Reprod. 1997, 12: 1762–1767.

    Article  CAS  PubMed  Google Scholar 

  10. Munné S., Alikani M., Tomkin G., et al. Embryo morphology, developmental rates, and maternal age are correlated with chromosomal abnormalities. Fertil. Steril. 1995, 64: 382–391.

    PubMed  Google Scholar 

  11. Gianaroli L., Munné S., Magli M.C., et al. Preimplantation genetic diagnosis of aneuploidy and male infertility. Int. J. Androl. 1997, 20: 31–34.

    PubMed  Google Scholar 

  12. Gianaroli L., Magli M.C., Munné S., et al. Advantages of day four embryo transfer in patients undergoing preimplantation genetic diagnosis of aneuploidy. J. Assist. Reprod. Genet. 1999, 16: 170–175.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Gianaroli L., Magli M.C., Ferraretti A.P. et al. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil. Steril. 1999, 72: 837–844.

    Article  CAS  PubMed  Google Scholar 

  14. Munné S., Magli M.C., Cohen J., et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum. Reprod. 1999, 14: 2191–2199.

    Article  PubMed  Google Scholar 

  15. Levron J., Ayala A. Goldring A., et al. Studies on sperm chromosomes in patients with severe male factor infertility undergoing assisted reproductive technology treatment. Mol. Cell. Endocrinol. (Special Issue), 2000 in press.

    Google Scholar 

  16. Liebaers I., Bonduelle., Van Assche E., et al. Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet 1995, 346: 1095.

    Article  CAS  PubMed  Google Scholar 

  17. World Health Organization. WHO laboratory manual for the examination of human semen and semen-cervical mucus interaction. Cambridge University Press, Cambridge, 1999.

    Google Scholar 

  18. Sathanathan H., Ratnam S.S., Ng S.C., et al. The sperm centriole: its inheritance, replication and perpetuation in early human embryos. Hum. Reprod. 1996, 11: 345–356.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gianaroli, L., Magli, M.C., Ferraretti, A.P. et al. Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility. J Endocrinol Invest 23, 711–716 (2000). https://doi.org/10.1007/BF03343797

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03343797

Key-words

Navigation