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Higher Degree of Chromosome Mosaicism in Preimplantation Embryos from Carriers of Robertsonian Translocation t(13;14) in Comparison with Embryos from Karyotypically Normal IVF Patients

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Abstract

Purpose : To compare the frequency and the degree of mosaicism in human embryos from Robertsonian translocation (RT) t(13;14) carriers, with embryos from karyotypically normal IVF patients.

Methods : FISH analysis of embryos from PGD cycles for RT t(13;14), with probes for chromosomes 13, 14, and 18 (Group I) and of embryos from karyotypically normal IVF patients with probes for chromosomes 13, 18, 21, X, and Y (Group II).

Results : The incidence of abnormal mosaic embryos was significantly higher in group I (38/51) as compared with group II (6/45) (χ2: P < 0.01). Furthermore, in group I the percentage of diploid cells per embryo was lower for chromosome 13 and 14 in comparison with 18, while in group II no differences were observed between the five chromosomes analyzed.

Conclusions : RT induces a high frequency of mosaicism specifically for the chromosomes implicated in the translocation; the analysis by FISH of two blastomeres is strongly recommended for these patients.

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References

  1. Handyside AH, Kontogianni EH, Hardy K, Winston RML: Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990;344:768–770

    PubMed  Google Scholar 

  2. Lissens W, Sermon K: Preimplantation genetic Diagnosis: Current status and new developments. Hum Reprod 1997;12:1756–1761

    PubMed  Google Scholar 

  3. Geraedts J, Handyside A, Harper J, Libaers I, Sermon K, Staessen C, Thornhill A, Viville S, Wilton L: ESHRE Preimplantation Genetic Diagnosis Consortium (PGD): Preliminary assessment of data from January 1997 to September. Hum Reprod 1998;14:3138–3148

    Google Scholar 

  4. Delhanty JDA, Harper JC, Ao A, Handyside AH, Winston RM: Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997;99:755–760

    PubMed  Google Scholar 

  5. Conn CM, Harper JC, Winston RML, Delanthy JD: Infertile couples with Robertsonian translocations: Preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum. Genet 1998;102:117–123

    PubMed  Google Scholar 

  6. Munné S, Grifo J, Cohen J, Weier HUG: Chromosome Abnormalities in Human Arrested Preimplantation Embryos: A multiple-probe FISH study. Am J Hum Genet 1994;55:150–159

    PubMed  Google Scholar 

  7. Munné S, Weier HUG, Grifo J, Cohen J: Chromosome mosaicism in human embryos. Biol Reprod 1994;51:41–49

    Google Scholar 

  8. Evsikov S, Verlinsky Y: Mosaicism in the inner cell mass of human blastocysts. Hum Reprod 1998;13:3151–3155

    PubMed  Google Scholar 

  9. Veiga A, Gil Y, Boada M, Carrera M, Vidal F, Boiso I, Ménézo Y, Barri PN: Confirmation of diagnosis in preimplantation genetic diagnosis (PGD) through blastocyst culture: Preliminary experience. Prenat Diagn 1999;19:1242–1247

    PubMed  Google Scholar 

  10. Emiliani S, Gonzalez-Merino E, Van den Bergh M, Abramowicz M, Vassart G, Englrt Y, Delneste D: Re-analysis by fluorescence in situ hybridisation of spare embryos cultured until Day 5 after preimplantation genetic diagnosis for a 47, XYY infertile patient demonstrates a high incidence of diploid mosaic embryos: A case report. Prenat Diagn 2000;20:1063–1066

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  12. Bielanska M, Lin Tan S, Ao A: Chromosomal mosaicism throughout human preimplantation development in vitro: Incidence, type, and relevance to embryo outcome. Hum Reprod 2002;17:413–419

    PubMed  Google Scholar 

  13. Scriven PN, Handyside AH, Mackie Ogilvie C: Chromosome translocations: Segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998;18:1437–1449

    PubMed  Google Scholar 

  14. Conn CM, Harper JC, Winston RML, Delhanty JD: Infertile couples with Robertsonian translocations: Preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998;102:117–123

    PubMed  Google Scholar 

  15. Munné S, Scott R, Sable D, Cohen J: First pregnancies after preconception diagnosis of translocations of maternal origin. Fertil Steril 1998;69:675–681

    PubMed  Google Scholar 

  16. Evsikov S, Cleslak MLT, Verlinsky Y: Effect of chromosomal translocations on the development of preimplantation human embryos in vitro. Fertil Steril 2000;74:672–677

    PubMed  Google Scholar 

  17. Escudero T, Lee M, Carrel D, Blanco J, Munne S.: Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14) (q10;q10) carriers. Prenat Diagn 2000;20:599–602

    PubMed  Google Scholar 

  18. IwarssonE, MalmgrenH, InzunzaJ, Ahrlund-RichterL, SjoblomP, RosenlundB, FridstromM, HovattaO, NordenskjoldM, BlennowF: Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenat Diagn 2000;20:1038–1047

    PubMed  Google Scholar 

  19. Coonen E, Dumoulin JCM, Ramaekers FCS, Hopman AH: Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod 1994;9:533–537

    PubMed  Google Scholar 

  20. Staessen C, Van Assche E, Joris H, Bonduelle M, Vandervorst M, Liebaers I, Van Steirteghem AC: Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis. Mol Hum Reprod 1999;5:382–389

    PubMed  Google Scholar 

  21. Hopman AH, Ramaekers FC, Raap AK, Beck JL, Devilee P, Van der Ploeg M, Vooijs GP: In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumours. Histochemistry 1998;89:307–316

    Google Scholar 

  22. MunnéS, MarquezC, MagliC, MortonP, MorrisonL: Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Mol Hum Reprod 1998;4:863–870

    PubMed  Google Scholar 

  23. Munné S, Magli C, Adler A, Wright G, De Boer K, Mortimer D, Tucker M, Cohen J, Gianaroli L: Treatment-related chromosome abnormalities in human embryos. Hum Reprod 1997;12:780–784

    PubMed  Google Scholar 

  24. Harrison RH, Kuo HC, Scriven PN, Handyside AH, MakkieOgilvie C: Lack of cell cycle check points in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analyzed by sequential multicolour FISH. Zygote 2000;8:217–224

    PubMed  Google Scholar 

  25. Hardy K, Spanos S, Becker D, Iannelli P, Winston RM, Stark J: From cell death to embryo arrest: Mathematical models of human preimplantation embryo development. Proc Natl Acad Sci USA 2001;13:1655–1660

    Google Scholar 

  26. Chen HW, Jang WS, Tzeng CR: Nitric oxide as a regulator in preimplantation embryo development and apoptosis. Fertil Steril 2001;75:1163–1171

    PubMed  Google Scholar 

  27. Munné S, Dailey T, Finkelstein M, Weier HUG: Reduction in signal overlap results in increased FISH efficiency: Implications for preimplantation genetic diagnosis. J Assist Reprod Genet 1996;13:149–156

    PubMed  Google Scholar 

  28. Ruangvutilert P, Delhanty JDA, Serhal P, Simopolou M, Rodeck CH, Harper JC: FISH analysis on day 5 post-insemination of human arrested and blastocyst stage embryos. Prenat Diagn 2000;20:552–560

    PubMed  Google Scholar 

  29. ESHREPGD Consortium Steering Committee: ESHRE Preimplantation Genetic Diagnosis Consortium: Data collection III (May 2001). Hum Reprod 2002;17:233–246

    Google Scholar 

  30. Vande Velde H, De Vos A, Sermon K, Staessen C, De Rycke M, Van Asshe E, Lissens W, Vandervorst M, Van Ranst H, Libaerts L, Van Steirteghem A: Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat Diagn 2000;20:1030–1037

    PubMed  Google Scholar 

  31. MunnéS, EscuderoT, SandalinasM, SableD, CohenJ: Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 2000;90:303–308

    PubMed  Google Scholar 

  32. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J: Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000;73:1209–1218

    PubMed  Google Scholar 

  33. Munné S: Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol 2001;183(Suppl 1):S55–58

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Fertility Clinic and Laboratory of Research on Human Reproduction. Fertility Clinic Erasmus Hospital, Free University of Brussels, French Speaking, Route de Lennik, 808, 1070, Brussels, Belgium

    Serena Emiliani

  2. Medical Genetics, Free University of Brussels, Brussels, Belgium

    Eric Gonzalez-Merino & Marc Abramowicz

  3. Fertility Clinic Erasmus Hospital, Free University of Brussels, French Speaking, Route de Lennik, 808, 1070, Brussels, Belgium

    Marc Van den Bergh & Yvon Englert

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  1. Serena Emiliani
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  2. Eric Gonzalez-Merino
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  3. Marc Van den Bergh
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  4. Marc Abramowicz
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  5. Yvon Englert
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Emiliani, S., Gonzalez-Merino, E., Van den Bergh, M. et al. Higher Degree of Chromosome Mosaicism in Preimplantation Embryos from Carriers of Robertsonian Translocation t(13;14) in Comparison with Embryos from Karyotypically Normal IVF Patients. J Assist Reprod Genet 20, 95–100 (2003). https://doi.org/10.1023/A:1021796226031

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