Skip to main content
Download PDF
  • Diagnostic Pré-Implantatoire (DPI)
  • Published:

Le diagnostic génétique pré-implantatoire: premier bilan du groupe parisien

Preimplantation genetic diagnosis: update

Andrologie volume 13, pages 259–264 (2003)Cite this article

Resume

Le travail rapporte l’expérience parisienne du diagnostic génétique pré-implantatoire (DPI). 59 couples ont été pris en charge de janvier 2000 à juillet 2001 au cours de 71 cycles. Les ovocytes recueillis ont été inséminés par injection intracytoplasmique de spermatozoïde et les embryons biopsiés au troisième jour de développement. L’analyse génétique a été effectuée le jour de la biopsie et la majorité des transferts embryonnaires effectués le quatriéme jour post fécondation. Au cours des 71 cycles, 872 ovocytes ont été recueillis dont 731 étaient compatibles avec une injection intracytoplasmique de spermatozoïde. Parmi les 505 embryonds obtenus, 421 embryons ont été biopsiés et un résultat génétique a été obtenu pour 312 (74%) d’entre eux. 127 embryons ont été transférés au cours de 58 transferts. 18 grossesses biologiques et 12 cliniques ont été obtenues (7 uniques, 4 gémellaires et une triple). 16 enfants sont nés. Le DPI prend désormais sa place parmi les choix proposés aux couples à risque de transmission de maladie génétique de particulière gravité et incurable au moment du diagnostic.

Abstract

This paper reports the birth of the first fourteen infants conceived after preimplantation genetic diagnosis (PGD) in our unit. Fifty-nine couples were enrolled between January 2000 and July 2001. They had a total of 71 oocyte pick-up cycles. The collected oocytes were inseminated by intracytoplasmic sperm injection. The resulting embryos were biopsied on the third day of development and genetic analysis was performed on the same day. Most of the embryo transfers were carried out on the fourth day. The 71 oocyte pick-up cycles yielded 872 oocytes of which 731 were suitable for intacytoplasmic sperm injection. Among the 505 embryos obtained, 421 embryos were biopsied and genetic diagnosis was performed for 312 (74%) of them. 127 embryos were transferred during 58 transfer procedures. There were 18 biochemical and 12 ongoing (7 singles, 4 twins and 1 triple) pregnancies. Sixteen infants have been born and 2 are expected. PGD now constitutes an alternative for couples at risk of transmission of a serious and incurable genetic disease.

References

  1. ESHRE PREIMPLANTATION GENETIC DIAGNOSIS (PGD) CONSORTIUM: Preliminary assessment of data from January 1997 to September 1998 ESHRE PGD Consortium Steering Committee. Hum. Reprod., 1999, 14: 3138–3148.

    Article  Google Scholar 

  2. ESHRE PREIMPLANTATION GENETIC DIAGNOSIS (PGD) CONSORTIUM: Data collection II (May 2000). Hum. Reprod., 2000, 15: 2673–2683.

    Article  Google Scholar 

  3. ESHRE PREIMPLANTATION GENETIC DIAGNOSIS (PGD) CONSORTIUM: Data collection III. Hum. Reprod., 2002, 1: 233–246.

    Google Scholar 

  4. FINDLAY I., MATTHEWS P.L., MULCAHY B.K., MITCHELSON K.: PCR to diagnose multiple defects from single cells: implications for PGD. Mol. Cell. Endocrinol., 2001, 183 suppl 1: S5-S12.

    Article  PubMed  CAS  Google Scholar 

  5. 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, 16: 82–90.

    Article  PubMed  CAS  Google Scholar 

  6. GIANAROLLI L., MAGLI M.C., FERRARETTI A.P.: Thein vivo andin vitro efficiency and efficacy of PGD for aneuploidy. Mol. Cell. Endocrinol., 2001, 183 supl 1: S13-S18.

    Article  Google Scholar 

  7. GRIFFIN D.K., HANDYSIDE A.H., PENKETH R.J., WINSTON R.M., DELHANTY J.D.: Fluorescentin situ hybridation to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Hum. Reprod., 1991, 6: 101–105.

    PubMed  CAS  Google Scholar 

  8. GRIFFIN D.K., HANDYSIDE A.H., HARPERT J.C. et al.: Clinical experience with preimplantation diagnosis of sex by dual fluorescentin situ hybridization. J. Assist. Reprod. Genet., 1994, 11: 132–143.

    Article  PubMed  CAS  Google Scholar 

  9. HANDYSIDE A., LESKO J., TARIN J., WINSTON R., HUGUES M.: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N. Engl. J. Med., 1992, 327: 905–909.

    PubMed  CAS  Google Scholar 

  10. KNIGHT S.J., LESE C.M., PRECHT K.S. et al.: An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet., 2000, 67: 320–332.

    Article  PubMed  CAS  Google Scholar 

  11. LIU J., LSSENS W., SILBER S.J., DEVROEY P., LIBAERTS I., VAN STEIRTHEGEM A.: Birth after preimplantation diagnosis of the cystic fibrosis ΔF508 mutation by polymerase chain reaction. J. Am. Med. Ass., 1994, 272: 1858–1860.

    Article  CAS  Google Scholar 

  12. 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  PubMed  CAS  Google Scholar 

  13. RAY P., GIGAREL N., BONNEFONT J.P. et al.: First specific PGD for ornithine transcarbanylase deficiency. Pren. Diagn., 2000, 20: 1048–1054.

    Article  CAS  Google Scholar 

  14. RAY P.F., MUNNICH A., NISAND I., FRYDMAN R., VEKEMANS M., VIVILIE S.: The place of “social sexing” in medicine and science. Hum. Reprod., 2002, 17: 248–249.

    Article  PubMed  Google Scholar 

  15. SCRIVEN P.N., HANDYSIDE A.H., OGILVIE C.M.: Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat. Diagn., 1998, 18: 1437–1449.

    Article  PubMed  CAS  Google Scholar 

  16. STROM C.M., STROM S., LEVINE E., GINSBERG N., BARTON J., VERLINSKY Y.: Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis. Am. J. Obstet. Gynecol., 2000, 182: 1629–1632.

    Article  PubMed  CAS  Google Scholar 

  17. TARIN J.J., HANDYSIDE A.H.: Embryo biopsy strategies for preimplantation diagnosis. Fertil. Steril., 1993, 59: 943–952.

    PubMed  CAS  Google Scholar 

  18. VAN DER VEN K., PESCHKA B., MONTAG M., LANGE R., SCHWANITZ G. VAN DER VEN H.H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod., 1998, 13: 48–54.

    Article  PubMed  Google Scholar 

  19. WILTON L., WILLIAMSON R., McBAIN J., VOULLAIRE L.: Use of comparative genomic hybridization to karyotype embryos prior to implantation: the achievement of a successful pregnancy. Hum. Reprod., 2001, 16: abstract book 1, 33.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère (AP-HP), 157 Rue de la Porte de Trivaux, 92141, Clamart

    Sabine Marcadet-Fredet, Violaine Kerbrat, Renato Fanchin, Jacques Kadoch & René Frydman

  2. Service d’Histologie-Embryologie-Cytogénétique à orientation Biologique et Génétique de la Reproduction, Hôpital Antoine Béclére (AP-HP), Clamart

    Nelly Achour-frydman, Gérard Tachdjian & Samir Hamamah

  3. Département de Génétique, Hôpital Necker-Enfants malades, Paris

    Pierre Ray, Serge Romana, Tania Attie, M. Lelorc’h, Michel Vekemans & Arnold Munnich

Authors
  1. Nelly Achour-frydman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gérard Tachdjian
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Pierre Ray
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Serge Romana
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Samir Hamamah
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sabine Marcadet-Fredet
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Violaine Kerbrat
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Renato Fanchin
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Jacques Kadoch
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Tania Attie
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. M. Lelorc’h
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Michel Vekemans
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Arnold Munnich
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. René Frydman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to René Frydman.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Achour-frydman, N., Tachdjian, G., Ray, P. et al. Le diagnostic génétique pré-implantatoire: premier bilan du groupe parisien. Androl. 13, 259–264 (2003). https://doi.org/10.1007/BF03034880

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03034880

Mots-clés

Key words

Basic and Clinical Andrology

ISSN: 2051-4190