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Different Probe Combinations for Assessment of Postzygotic Chromosomal Imbalances in Human Embryos

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Abstract

Purpose: We compared three different probe combinations for detection of postzygotic mosaic imbalances in human preimplantation embryos. Methods: Two hundred and two spare cleavage stage embryos were hybridized with fluorescently labelled DNA probe mixtures specific to chromosomes X, Y, 18 (N = 67), chromosomes 2, 7, 18 (N = 71), or chromosomes 13, 16, 18, 21, 22 (N = 64). Results: An overall higher incidence of abnormalities was detected using probe mixture for five (69%) or three (72%) autosomes compared to one autosome and chromosomes X and Y (54%). The rate of aneuploidy detected increased with the number of autosomes hybridized from 4% (X, Y, 18) to 11% (2, 7, 18) to 19% (13, 16, 18, 21, 22). Postzygotic mosaicism comprised the most frequent abnormality detected by all probe combinations, and the percentage detected by each was similar, 48% (X, Y, 18), 56% (2, 7, 18(, and 50% (13, 16, 18, 21, 22). Conclusions: A probe combination of five autosomes, particularly those of clinical relevance, may be more beneficial for screening embryos from patients at risk of maternal-age-related aneuploidy. However, all three probe combinations are as efficient at identifying postzygotic mosaicism, and may be used for identifying embryos with less potential of developing to term.

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REFERENCES

  1. Griffin DK, Handyside AH, Harper JC, Wilton LJ, Atkinson G, Soussis I, Wells D, Kontogianni E, Tarin J, Geber S, Ao A, Winston RML, Delhanty JDA: Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. J Assist Reprod Genet 1994;11:132–143

    Google Scholar 

  2. Coonen E, Dumoulin JC, Dreesen JC, Bras M, Evers JL, Geraedts JP: Clinical application ofFISHfor sex determination of embryos in preimplantation diagnosis of X-linked diseases. J Assist Reprod Genet 1996;13:133–136

    Google Scholar 

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

    Google Scholar 

  4. Munne S, Fung J, Cassel MJ, Marquez C, Weier HU: Preimplantation genetic analysis of translocations: Case-specific probes for interphase cell analysis. Hum Genet 1998;102:663–674

    Google Scholar 

  5. Gianaroli L, Magli MC, Ferraretti AP, Munne S: 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

    Google Scholar 

  6. Smith SE, Toledo AA, Massey JB, Kort HI: Simultaneous detection of chromosomes X, Y, 13, 18, and 21 by fluorescence in situ hybridization in blastomeres obtained from preimplantation embryos. J Assist Reprod Genet 1998;15:314–319

    Google Scholar 

  7. Munne S, Magli C, Bahce M, Fung J, Legator M, Morrison L, Cohert J, Gianaroli L: Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn 1998;18:1459–1466

    Google Scholar 

  8. Munne S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, Tucker M, Marquez C, Sable D, Ferraretti AP, Massey JB, Scott R: Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999;14:2191–2199

    Google Scholar 

  9. Kahraman S, Bahce M, Samli H, Imirzalioglu N, Yakisn K, Cengiz G, Donmez E: Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation failure. Hum Reprod 2000;15:2003–2007

    Google Scholar 

  10. Harper JC, Coonen E, Handyside AH, Winston RM, Hopman AH, Delhanty JD: Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat Diagn 1995;15:41–49

    Google Scholar 

  11. Delhanty JD, 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

    Google Scholar 

  12. Munne S, Cohen J: Chromosome abnormalities in human embryos. Hum Reprod Update 1998;4:842–855

    Google Scholar 

  13. Munne S, Magli C, Adler A, Wright G, de Boer K, Mortimer D, Tucker M, Cohen J, Gianaroli L: Treatmentrelated chromosome abnormalities in human embryos. Hum Reprod 1997;12:780–784

    Google Scholar 

  14. Hunt P: The control of mammalian female meiosis: Factors that influence chromosome segregation. J Assist Reprod Genet 1998;15:246–252

    Google Scholar 

  15. Harrison RH, Kuo HC, Scriven PN, Handyside AH, Ogilvie CM: Lack of cell cycle checkpoints in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analysed by sequential multicolour FISH. Zygote 2000;8:217–224

    Google Scholar 

  16. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M: Humananeuploidy: Incidence, origin, and etiology. Environ Mol Mutagen 1996;28:167–175

    Google Scholar 

  17. Coonen E, Harper JC, Ramaekers FCS, Delhanty JDA, Hopman AHN, Geraedts JPM, Handyside AH: Presence of chromosomal mosaicism in abnormal human preimplantation embryos detected by fluorescent in situ hybridization (FISH). Hum Genet 1994;54:609–615

    Google Scholar 

  18. Bielanska M, Tan SL, Ao A: Fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46, XY/47, XXY male. Hum Reprod 2000;15:440–444

    Google Scholar 

  19. Warburton D, Kinney A: Chromosomal differences in susceptibility to meiotic aneuploidy. Environ Mol Mutagen 1996;28:237–247

    Google Scholar 

  20. Battaglia DE, Goodwin P, Klein NA, Soules MR: Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum Reprod 1996;11:2217–2222

    Google Scholar 

  21. Liu J, Tsai YL, Zheng XZ, Yazigi RA, Baramki TA, Compton G, Katz E: Feasibility study of repeated fluorescent in-situ hybridization in the same human blastomeres for preimplantation genetic diagnosis. Mol Hum Reprod 1998;4:972–977

    Google Scholar 

  22. Liu J, Tsai YL, Zheng XZ, Baramki TA, Yazigi RA, Katz E: Potential use of repeated fluorescence in situ hybridization in the same human blastomeres for preimplantation genetic diagnosis. Fertil Steril 1998;70:729–733

    Google Scholar 

  23. Wells D, Sherlock JK, Handyside AH, Delhanty JD: Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative hybridization. Nucleic Acids Res 1999;27:1214–1218

    Google Scholar 

  24. Wolstenholme J: Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 1996;16:511–524

    Google Scholar 

  25. Sasabe Y, Katayama KP, Nishimura T, Takahashi A, Asakura H, Winchester-Peden K, Wise L, Abe Y, Kubo H, Hirakawa S: Preimplantation diagnosis by fluorescence in situ hybridization using 13-, 16, 18-, 21-, 22-, X-, and Y-chromosome probes. J Assist Reprod Genet 1999;16:92–96

    Google Scholar 

  26. Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, Moise J, Valle J, Ginsberg N, Strom C, Kuliev A: Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 1999;16:165–169

    Google Scholar 

  27. Gianaroli L, Magli MC, Munne S, Fiorentino A, Montanaro N, Ferraretti AP: Will preimplantation genetic diagnosis assist patients with a poor prognosis to achieve pregnancy? Hum Reprod 1997;12:1762–1767

    Google Scholar 

  28. Munne S, Alikani M, Tomkin G, Grifo J, Cohen J: Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril 1995; 64:382–391

    Google Scholar 

  29. Benadiva CA, Kligman I, Munne S: Aneuploidy 16 in human embryos increases significantly with maternal age. Fertil Steril 1996;66:248–255

    Google Scholar 

  30. Pellicer A, Rubio C, Vidal F, Minguez Y, Gimenez C, Egozcue J, Remohi J, Simon C: In vitro fertilization plus preimplantation genetic diagnosis in patients with recurrent miscarriage: An analysis of chromosome abnormalities in human preimplantation embryos. Fertil Steril 1999;71:1033–1039

    Google Scholar 

  31. Bahce M, Cohen J, Munne S: Preimplantation genetic diagnosis of aneuploidy: Were we looking at the wrong chromosomes? J Assist Reprod Genet 1999;16:176–181

    Google Scholar 

  32. Watt JL, Templeton AA, Messinis I, Bell L, Cunningham P, Duncan RO: Trisomy 1 in an eight cell human pre-embryo. J Med Genet 1987;24:60–64

    Google Scholar 

  33. Harrison RH, Kuo HC, Scriven PN, Handyside AH, Ogilvie CM: Lack of cell cycle checkpoints in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analysed by sequential multicolour FISH. Zygote 2000;8:217–224

    Google Scholar 

  34. Voullaire L, Slater H, Williamson R, Wilton L: Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000;106:210–217

    Google Scholar 

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Royal Victoria Hospital, McGill University, Montreal, Canada, QC, H3A 1A1

    Magdalena Bielanska, Seang Lin Tan & Asangla Ao

  2. Department of Experimental Medicine, Royal Victoria Hospital, McGill University, Montreal, Canada, QC, H3A 1A1

    Magdalena Bielanska & Seang Lin Tan

  3. Department of Human Genetics, Royal Victoria Hospital, McGill University, Montreal, Canada, QC, H3A 1A1

    Asangla Ao

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  1. Magdalena Bielanska
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  2. Seang Lin Tan
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  3. Asangla Ao
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Bielanska, M., Tan, S.L. & Ao, A. Different Probe Combinations for Assessment of Postzygotic Chromosomal Imbalances in Human Embryos. J Assist Reprod Genet 19, 177–182 (2002). https://doi.org/10.1023/A:1014842012261

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