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Bilan des examens chromosomiques de 277 couples candidats à l’injection intracytoplasmique de spermatozoïde

Chromosome abnormalities in 277 couples undergoing intracytoplasmic sperm injection

Resume

Ce travail a pour objet d’évaluer la fréquence des anomalies chromosomiques chez 277 couples candidats à l’injection intracytoplasmique de spermatozoïde (ICSI). Sept anomalies ont pu être identifiées, soit 1,3% par individu et 2,6% par couple: deux translocations réciproques, deux translocations robertsoniennes, une inversion péricentrique, une mosaïque gonosomique et un marqueur excédentaire. Curieusement, 71% (5/7) de ces anomalies sont retrouvées chez les conjointes, alors que les indications d’ICSI sont masculines. Ces données confirment la plus grande incidence des anomalies chromosomiques chez ces couples par rapport à la population générale et justifient l’intérêt de la pratique systématique du caryotype chez les deux membres du couple candidat à l’ICSI.

Abstract

In these study the frequency of congenital chromosomal aberrations was assessed in a sample of 277 couples included in a intracytoplasmic sperm injection (ICSI) program. A total of 7 aberrant karyotypes were diagnosed, corresponding to an abnormality rate of 1.3% per individual and 2.6% per couple. The following types of abnormalities were observed: reciprocal translocations (n=2), Robertsonian translocations (n=2), pericentral inversion (n=1), sex chromosomal mosaicism (n=1), marker chromosome (n=1). Surprisingly, 71% (5/7) of all abnormal karyotypes were contributed by the female partner of ICSI patients. These data confirm the higher incidence of chromosomal aberration in infertile couples compared with the baseline population risk. It also confirms that not only the male, but also the female should be routinely karyotyped prior to ICSI, and then receive appropriate genetic counselling.

Références

  1. BASCHAT, A.A., KÜPKER, W., EL HASANI, S., et al.: Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection. Hum. Reprod., 1996, 11: 330–333.

    PubMed  CAS  Google Scholar 

  2. DE BRAEKELEER, M. AND DAO, T.M.: Cytogenetic studies in male infertility: a review. Hum. Reprod., 1991, 6: 245–250.

    PubMed  Google Scholar 

  3. MAU, U.A., BÄCKERT, I.T., KAISER, P. et al.: Chromosomal finding in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum. Reprod. 1997, 12: 930–937.

    Article  PubMed  CAS  Google Scholar 

  4. MESHEDE, 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  Google Scholar 

  5. MIDRO, A.T., STENGEL-RUTKOWSHI, S. AND STENE, J.: Experience with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet., 1992, 41: 113–122.

    Article  PubMed  CAS  Google Scholar 

  6. MITELMAN, F. (ed.) ISCN 1995—An International System for Human Cytogenetic Nomenclature. Karger, Basel, 1995, 114 pp.

    Google Scholar 

  7. MONTAG, M., VAN DER VEN K., VED, S. et al.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 1997, 12: 2635–2640.

    Article  PubMed  CAS  Google Scholar 

  8. OSTROWSKI, R.S., GRASS, F., NORTON, J. et al.: Evaluation of X chromosomal mosaicism by fluorescent in situ hybridization in women who have recurrent spontaneous pregnancy losses. Am. J. Hum. Genet., 1993, 53: Abstract 587.

    Google Scholar 

  9. PAUER, H.U., HINNEY, B., MICHELMANN, H.W. et al.: Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection. Hum. Reprod., 1997, 12: 1909–1912.

    Article  PubMed  CAS  Google Scholar 

  10. PESCHKA, B., SCHWANITZ, G., VAN DER VEN, K. et al.: Type and frequency of constitutional chromosome aberrations in couples undergoing ICSI. Hum. Reprod., 1996, 11: 224–225.

    Google Scholar 

  11. SCHOLTES, M.C., BEHREND, C., DIETZELDAHMEN, J. et al.: Chromosomes aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertil. Steril., 1998, 70: 933–937.

    Article  PubMed  CAS  Google Scholar 

  12. TESTART, J., GAUTIER, E., BRAMI, C. et al.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod., 1996, 12: 2609–2612.

    Google Scholar 

  13. TONCHEVA, D., ILIEVA, P. AND MAVRUDIEVA, M.: Detection of low level sex-chromosomal mosaicism. Genet. Couns., 1994, 5: 363–367.

    PubMed  CAS  Google Scholar 

  14. VAN DER VEN, K., PESCHKA, B., MONTAG, M. et al.: Increased frequency of congenital aberration in female partner of couples undergoing intracytoplasmic sperm injection. Hum. Reprod., 1998, 13: 48–54.

    Article  PubMed  Google Scholar 

  15. VOGEL, F., AND MOTULSKI, A.G.: Human genetics, 3rd Edn, Springer-Verlag, 1997, Berlin, pp. 386–397.

    Google Scholar 

  16. World Health Organization: WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th Edn, Cambridge University Press, 1994, New York.

    Google Scholar 

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Hocquet, D., Roux, C., Collonge-Rame, M.A. et al. Bilan des examens chromosomiques de 277 couples candidats à l’injection intracytoplasmique de spermatozoïde. Androl. 9, 505–510 (1999). https://doi.org/10.1007/BF03034668

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