Skip to main content
SpringerLink
Log in

Embryo Biopsy for PGD: Current Perspective

  • Chapter
  • First Online:
Practical Manual of In Vitro Fertilization

  • 3830 Accesses

Abstract

To date, it is blastocyst-stage biopsy that has given valuable improvement in implantation rates, and it waits to be seen whether the still prevalent day 3 biopsies and day 0–1 biopsies of polar bodies can achieve the same outcomes. With the use of a DNA amplification-based approach, the interpretation problems associated with low-level somatic mosaicism common in embryos and seen with FISH are partially overcome. The tissue sample, typically consisting of 3–5 cells, is analyzed as a whole (and is taken to represent the embryo as a whole), thus producing an averaging effect for the constitutional chromosomes under investigation.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. de Boer KA, Catt JW, Jansen RPS, Leigh D, McArthur S. Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertil Steril. 2004;82(2):295–8.

    Article  PubMed  Google Scholar 

  2. Henman M, Catt JW, Wood T, Bowman MC, de Boer KA, Jansen RPS. Elective transfer of single fresh blastocysts and later transfer of cryostored blastocysts reduces the twin pregnancy rate and can improve the in vitro fertilization live birth rate in younger women. Fertil Steril. 2005;84(6):1620–7.

    Article  PubMed  Google Scholar 

  3. Jansen RPS. Female age and the chance of a baby from one in-vitro fertilisation treatment. Med J Aust. 2003;178:258–61.

    PubMed  Google Scholar 

  4. Jansen RPS. Benefits and challenges brought by improved results from in vitro fertilization. Intern Med J. 2005;35(2):108–17.

    Article  PubMed  CAS  Google Scholar 

  5. Jansen RPS, Bowman MC, de Boer KA, Leigh DA, Lieberman DB, McArthur SJ. What next for preimplantation genetic screening (PGS)? Experience with blastocyst biopsy and testing for aneuploidy. Hum Reprod. 2008;23(7):1476–8.

    Article  PubMed  Google Scholar 

  6. 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(6):1628–36.

    Article  PubMed  Google Scholar 

  7. McArthur SJ, Leigh D, Marshall JT, Gee AT, de Boer KA, Jansen RPS. Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations. Prenat Diagn. 2008;28(5):434–42.

    Article  PubMed  CAS  Google Scholar 

  8. Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8(12):2185–91.

    PubMed  Google Scholar 

  9. Kuliev A, Verlinsky Y. Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. Hum Reprod Update. 2004;10:401–7.

    Article  PubMed  Google Scholar 

  10. Bolor H, Mori T, Nishiyama S, et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet. 2009;84(1):14–20.

    Article  PubMed  CAS  Google Scholar 

  11. Landwehr C, Montag M, Van der Ven K, Weber RG. Rapid comparative genomic hybridization protocol for prenatal diagnosis and its application to aneuploidy screening of human polar bodies. Fertil Steril. 2008;90(3):488–96.

    Article  PubMed  Google Scholar 

  12. Vialard F, Hammoud I, Molina-Gomes D, et al. Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members. J Assist Reprod Genet. 2008;25(11–12):539–45.

    Article  PubMed  CAS  Google Scholar 

  13. Voullaire L, Collins V, Callaghan T, McBain J, Williamson R, Wilton L. High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. Fertil Steril. 2007;87(5):1053–8.

    Article  PubMed  Google Scholar 

  14. Schoolcraft WB, Katz-Jaffe MG, Stevens J, Rawlins M, Munne S. Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial. Fertil Steril. 2009;92(1):157–62.

    Article  PubMed  Google Scholar 

  15. Mastenbroek S, Twisk M, van Echten-Arends J, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357(1):9–17.

    Article  PubMed  CAS  Google Scholar 

  16. Milki AA, Hinckley MD, Westphal LM, Behr B. Elective single blastocyst transfer. Fertil Steril. 2004;81(6):1697–8.

    Article  PubMed  Google Scholar 

  17. Van Dyke DL, Weiss L, Robertson JR, Babu VR. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet. 1983;35:301–8.

    PubMed  Google Scholar 

  18. Stern C, Pertile M, Norris H, Hale L, Baker H. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14:2097–101.

    Article  PubMed  CAS  Google Scholar 

  19. Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat Diagn. 2002;22(6):512–8.

    Article  PubMed  Google Scholar 

  20. Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munne S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online. 2006;13(6):869–74.

    Article  PubMed  Google Scholar 

  21. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–18.

    Article  PubMed  Google Scholar 

  22. Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod. 2010;16(5):329–37.

    Article  PubMed  CAS  Google Scholar 

  23. Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258(5083):818–21.

    Article  PubMed  CAS  Google Scholar 

  24. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD, Munné S. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril. 2002;78(3):543–9.

    Article  PubMed  Google Scholar 

  25. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med. 2001;345(21):1537–41.

    Article  PubMed  CAS  Google Scholar 

  26. Gutiérrez-Mateo C, Gadea L, Benet J, Wells D, Munné S, Navarro J. Aneuploidy 12 in a Robertsonian (13;14) carrier: case report. Hum Reprod. 2005;20(5):1256–60.

    Article  PubMed  Google Scholar 

  27. Obradors A, Fernandez E, Oliver-Bonet M, et al. Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report. Hum Reprod. 2008;23(8):1949–56.

    Article  PubMed  CAS  Google Scholar 

  28. Peng W, Takabayashi H, Ikawa K. Whole genome amplification from single cells in preimplantation genetic diagnosis and prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 2007;131(1):13–20.

    Article  PubMed  CAS  Google Scholar 

  29. Wells D, Fragouli E, Stevens J, Munné S, Schoolcraft WB, Katz-Jaffe MG. Fertil Steril. 2010;90:s80.

    Article  Google Scholar 

  30. Hu DG, Webb G, Hussey N. Aneuploidy detection in single cells using DNA array-based comparative genomic hybridization. Mol Hum Reprod. 2004;10(4):283–9.

    Article  PubMed  CAS  Google Scholar 

  31. Traversa MV, Marshall J, McArthur S, Leigh D. The genetic screening of preimplantation embryos by comparative geneome hybridisation. Reprod Biol. 2011;10 (Supp 3):51–60.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Sydney IVF, Sydney, Australia

    Steven J. McArthur BSc, Don Leigh PhD (UNSW), Maria Traversa BSc, Msc, (Med), James Marshall BAppSc (UTS) & Robert P. S. Jansen MD CREI

Authors
  1. Steven J. McArthur BSc
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Don Leigh PhD (UNSW)
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maria Traversa BSc, Msc, (Med)
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. James Marshall BAppSc (UTS)
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Robert P. S. Jansen MD CREI
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Steven J. McArthur BSc .

Editor information

Editors and Affiliations

  1. , Scientific and Laboratory Director, Reproductive Biology Associates, Atlanta, 30342, Georgia, USA

    Zsolt Peter Nagy

  2. , Sr. Embryologist, Montreal Reproductive Centre, Montreal, H4A 3J3, Québec, Canada

    Alex C. Varghese

  3. Center for Reproductive Medicine, Department of Urology, Cleveland Clinic, Euclid Avenue 9500, Cleveland, 44195, Ohio, USA

    Ashok Agarwal

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

McArthur, S.J., Leigh, D., Traversa, M., Marshall, J., Jansen, R.P.S. (2012). Embryo Biopsy for PGD: Current Perspective. In: Nagy, Z., Varghese, A., Agarwal, A. (eds) Practical Manual of In Vitro Fertilization. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1780-5_52

Download citation

  • DOI: https://doi.org/10.1007/978-1-4419-1780-5_52

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-1779-9

  • Online ISBN: 978-1-4419-1780-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation