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The Benefits of Preimplantation Genetic Diagnosis for Chromosomal Aneuploidy

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Biennial Review of Infertility

Abstract

Despite recent controversy, preimplantation genetic diagnosis (PGD) for aneuploidies is becoming a practical means in assisted reproduction technology (ART) to select embryos with higher developmental potential for improving in vitro fertilization (IVF) effectiveness. Available PGD experience for chromosomal disorders shows that at least half of the oocytes and embryos obtained from poor prognosis IVF patients are aneuploid and clearly should not be transfered, which makes PGD of direct clinical relevance to IVF. The current selection of embryos for transfer, based on morphologic criteria, cannot guarantee avoiding the transfer of aneuploid embryos destined to be lost in pre and post-implantation developments. This may explain the fact that thousands of PGD cycles have been performed for poor prognosis IVF patients, including those of advanced reproductive age, with repeated IVF failure, and recurrent spontaneous abortions, with the majority demonstrating a positive impact of preselection of aneuploid-free embryos on IVF outcome. The present review demonstrates that because of the potential benefit of PGD for chromosomal disorders, it may soon become a valuable addition to the required standards of IVF.

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References

  1. Gianaroli L, Magli MC, Ferraretti AP. The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy. Mol Cell Endocrin 2001; 183:S13–S18.

    Article  CAS  Google Scholar 

  2. Verlinsky Y, Kuliev A. Atlas of Preimplantation Genetic Diagnosis. Taylor & Francis, London, 2005; pp. 288.

    Google Scholar 

  3. Munne S. Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online 2006; 12:234–253.

    Article  PubMed  Google Scholar 

  4. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, Kuliev A. Over a decade of preimplantation genetic diagnosis experience – a multicenter report. Fertil Steril 2004; 82:292–294.

    Article  PubMed  Google Scholar 

  5. Munne S. Chromosomal status of human embryo. In: Human Preimplantation Embryo Selection. Edited by Elder K, Cohen J. Informa Healthcare, London, UK, 2007; 209–234.

    Chapter  Google Scholar 

  6. Harper JC, de Die-Smulders C, Goosens V, et al. ESHRE preimplantation genetic diagnosis consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod 2008; 23:741–755.

    Article  PubMed  CAS  Google Scholar 

  7. McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RPS. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005; 84:1628–1636.

    Article  PubMed  Google Scholar 

  8. Verlinsky Y, Kuliev A. Practical Preimplantation Genetic Diagnosis. Springer, Berlin, 2006; XII, 204 pp.

    Google Scholar 

  9. Cieslak J, Tur-Kaspa I, Ilkevitch Y, Bernal A, Morris R, Verlinsky Y. Multiple micromanipulations for preimplantation genetic diagnosis do not affect embryo development to the blastocyst stage. Fertil Steril 2006; 85:1826–1829.

    Article  Google Scholar 

  10. Kuliev A, Cieslak J, Illkewitch Y, Verlinsky Y. Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis of age-related aneuploidies. Reprod BioMed Online 2003; 6:54–59.

    Article  PubMed  Google Scholar 

  11. Kuliev A, Cieslak J, Verlinsky Y. Frequency and distribution of chromosomal abnormalities in human oocytes. Cytogenet Genome Res 2005; 111:193–198.

    Article  PubMed  CAS  Google Scholar 

  12. Magli C, Ferraretti A, Crippa A, Lappi M, Feliciani E, Gianaroli L. First meiosis errors in immature oocytes generated by stimulated cycles. Fertil Steril 2006; 86:629–635.

    Article  PubMed  Google Scholar 

  13. Munné S, Serena C, Colls P, et al Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage-stage embryos. Reprod Biomed Online 2007;14:628–634.

    Article  PubMed  Google Scholar 

  14. Hassord T and Hunt P. To err in human: the genesis of human aneuploidy. Nat Rev Genet 2001; 2:280–291.

    Article  Google Scholar 

  15. Templado C, Bosch M, Benet J. Frequency and distribution of chromosome abnormalities in human spermatozoa. Cytogenet Genome Res 2005; 111:199–205.

    Article  PubMed  CAS  Google Scholar 

  16. Pellestor F. Andreo B, Armal F, Humeau C, Demaille J. Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod 2002; 17:2134–2145.

    Article  PubMed  Google Scholar 

  17. Munné S, Sandalinas M, Escudero T, Marquuez C, Cohen J. Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online, 2002; 4:223–232.

    Article  PubMed  Google Scholar 

  18. Munne S, Velilla E, Colls P, Bermudes MG, Vemuri MC, Steuerwald N, Garrisis J, Cohen J. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Ferlil Steril 2005; 84:1328–1334.

    Article  Google Scholar 

  19. Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J, Sable D. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online 2003; 7:91–97.

    Article  PubMed  Google Scholar 

  20. Munne S, Fisher J, Warner A, Chen S, Zouves C, Cohen J, and referring centers PGD group. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: A Multi-Center Study. Fertil Steril 2006; 85:326–332.

    Article  PubMed  CAS  Google Scholar 

  21. PGDIS. Guidelines for good practice in PGD: program requirements and laboratory quality assurance. Reprod Biomed Online 2008; 16:134–147.

    Article  Google Scholar 

  22. Staessen C, Platteau P, Van Assche E, Michels A, Tournaye H, Camus M, Devroey P, Liebaers I, Van Steirteghem A. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004; 19:2849–2858.

    Article  PubMed  Google Scholar 

  23. Platteau P, Staessen C, Michiels A, Van Steirteghem A, Liebaers I, Devroey P. Preimplantation genetic diagnosis for aneuploidy in patients with unexplained recurrent miscarriages. Fertil Steril 2005; 83:393–397.

    Article  PubMed  Google Scholar 

  24. Mastenbroek S, Twisk M, Van Echten-Arends J, et al. In vitro fertilization with preimplantation genetic screening. NEJM 2007; 357:9–17.

    Article  PubMed  CAS  Google Scholar 

  25. Cohen J, Wells D, Munné S. Removal of two cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests employed to enhance implantation rates. Fertil Steril 2007; 87:496–503.

    Article  PubMed  Google Scholar 

  26. Shahine LK, Cedar MI. Preimplantation genetic diagnosis does not increase pregnancy rates in patients at risk for aneuploidy. Fertil Steril 2006; 85:51–56.

    Article  PubMed  Google Scholar 

  27. Twisk M, Mastenbroek S, Van Wely, Neineman M, Van Der Veen F, Repping S. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilization or introcytoplasmic spem injection. Coehrane Database Syst Rev 2006; 25:CD005291.

    Google Scholar 

  28. Denoso P, Staessen C, Fauser BCJM, Devroey P. Current value of preimplantation genetic aneuploidy screening in IVF. Hum Reprod Update 2007; 13:15–25.

    Article  Google Scholar 

  29. Gianaroli L, Magli MC, Ferraretti A, Tabanelli C, Trengia V, Fargalli V, CavalliniG. The beneficial effects of PGD for aneuploidy support extensive clinical application. Reprod Biomed Online 2004; 10:633–640.

    Article  Google Scholar 

  30. Verlinsky Y, Tur-Kaspa I, Cieslak J, Bernal A, Morris R, Taranissi M, Kaplan B, Kuliev A. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis IVF patients. Reprod Biomed Online 2005; 11:219–225.

    Article  PubMed  CAS  Google Scholar 

  31. PGDIS. Eighth international symposium on preimplantation genetic diagnosis. Reprod Biomed Online 2008; 16 (Suppl 3): 60 pp.

    Google Scholar 

  32. Magli MC, Jones GM, Gras L, Gianaroli L, Korman I, Trounson AO. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000; 15:1781–1786.

    Article  PubMed  CAS  Google Scholar 

  33. Sandalinas M, Sadowy S, Alikani M, Calderon, G, Cohen J, Munne S. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 2001; 16:1954–1958.

    Article  PubMed  CAS  Google Scholar 

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  1. Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, IL, USA

    Anver Kuliev & Yury Verlinsky

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  1. Anver Kuliev
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  2. Yury Verlinsky
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Correspondence to Yury Verlinsky .

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    © 2009 Humana Press, a part of Springer Science+Business Media, LLC

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    Kuliev, A., Verlinsky, Y. (2009). The Benefits of Preimplantation Genetic Diagnosis for Chromosomal Aneuploidy. In: Voorhis, B., Schlegel, P., Racowsky, C., Carrell, D. (eds) Biennial Review of Infertility. Humana Press. https://doi.org/10.1007/978-1-60327-392-3_21

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    • DOI: https://doi.org/10.1007/978-1-60327-392-3_21

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    • Publisher Name: Humana Press

    • Print ISBN: 978-1-60327-391-6

    • Online ISBN: 978-1-60327-392-3

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