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New Developments in PGD

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Preimplantation Genetic Diagnosis in Clinical Practice

Abstract

PGD is a fast-changing landscape of reproductive medicine and constantly adopts new developments to improve its availability, accuracy and safety. These developments have been made possible because of rapid advances in assisted conception techniques and genetic testing tools. This chapter will cover some of those new developments, which are gradually being incorporated into the day-to-day PGD service.

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Further Reading

  • Chang LJ, Huang CC, Tsai YY, Hung CC, Fang MY, Lin YC, Su YN, Chen SU, Yang YS. Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. Hum Reprod. 2013;28(5):1435–44.

    Article  PubMed  Google Scholar 

  • Desmyttere S, De Rycke M, Staessen C, Liebaers I, De Schrijver F, Verpoest W, Haentjens P, Boundelle M. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod. 2012;27:288–93.

    Article  PubMed  CAS  Google Scholar 

  • Fan H, Wang J, Potanina A, Quake SR. Whole genome molecular haplotyping of single cells. Nat Biotechnol. 2011;29(1):51–7.

    Article  PubMed  CAS  Google Scholar 

  • Handyside A, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651–8.

    Article  PubMed  Google Scholar 

  • Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, Pehlivan Budak T, Renwick P, De Rycke M, Geraedts JP, Harton G. The ESHRE PGD consortium: 10 years of data collection. Hum Reprod Update. 2012;18(3):234–47.

    Article  PubMed  CAS  Google Scholar 

  • Hosomichi K, Jinam TA, Mitsunaga S, Nakaoka H, Inoue I. Phase determined complete sequencing of the HLA genes by next generation sequencing. BMC Genomics. 2013;14:355–70.

    Article  PubMed  CAS  Google Scholar 

  • Lashwood A, Kanabar D, El-Toukhy T, Kavalier F. Paediatric outcome from birth onwards after preimplantation genetic diagnosis. J Med Genet. 2007;44 Suppl 1:S28.

    Google Scholar 

  • Liebaers I, Desmyttere S, Verpoest W, De Rycke M, Staessen C, Sermon K, Devroey P, Haentjens P, Bonduelle M. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod. 2010;25(1):275–82.

    Article  PubMed  CAS  Google Scholar 

  • Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod. 2009;24(3):741–7.

    Article  PubMed  Google Scholar 

  • Nekkebroeck J, Bonduelle M, Desmyttere S, Van den Broeck W, Ponjaert-Kristoffersen I. Mental and psychomotor development of 2-year-old children born after preimplantation genetic diagnosis/screening. Hum Reprod. 2008;23:1560–6.

    Article  PubMed  Google Scholar 

  • Nekkebroeck J, Bonduelle M, Desmyttere S, Van den Broeck W, Ponjaert-Kristoffersen I. Socioemotional and language development of 2-year-old children born after PGD/PGS, and parental well-being. Hum Reprod. 2008;23:1849–57.

    Article  PubMed  Google Scholar 

  • Thornhill AR, DeDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, et al. ESHRE PGD consortium. ESHRE PGD consortium ‘best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod. 2005;20:35–48.

    Article  PubMed  CAS  Google Scholar 

  • Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott Jr RT. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013;99(5):1377–84.

    Article  PubMed  CAS  Google Scholar 

  • Xu K, Montag M. New perspectives on embryo biopsy: not how, but when and why? Semin Reprod Med. 2012;30(4):259–66.

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Assisted Conception Unit, Guy’s Hospital,, 11th Floor, Tower Wing, Great Maze Pond, London, SE1 9RT, UK

    Alison Jones BSc (Hons), MMedSci

  2. Centre for Preimplantation Genetic Diagnosis, Guy’s and St. Thomas’ Hospital, Great Maze Pond, London, SE1 9RT, UK

    Pamela Renwick FCRPath, PhD, MSc, BSc

  3. Assisted Conception Unit and PGD Centre, Guy’s and St. Thomas’ Hospital NHS Foundation Trust, 11th Floor, Tower Wing, Guy’s Hospital, Great Maze Pond, London, SE1 9RT, UK

    Tarek El-Toukhy MBBCh, MSc, MD, MRCOG

  4. Clinical Genetics Department, Guy’s and St. Thomas’ Hospital NHS Foundation Trust, 7th Floor Borough Wing, Great Maze Pond, London, SE1 9RT, UK

    Alison Lashwood Msc, RGN, RSCN, Dip HV

Authors
  1. Alison Jones BSc (Hons), MMedSci
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  2. Pamela Renwick FCRPath, PhD, MSc, BSc
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  3. Alison Lashwood Msc, RGN, RSCN, Dip HV
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  4. Tarek El-Toukhy MBBCh, MSc, MD, MRCOG
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Corresponding author

Correspondence to Alison Jones BSc (Hons), MMedSci .

Editor information

Editors and Affiliations

  1. Assisted Conception Unit, Guy's and St. Thomas Hospital, London, United Kingdom

    Tarek El-Toukhy

  2. Department of Women’s Health, King’s College, London, United Kingdom

    Peter Braude

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© 2014 Springer-Verlag London

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Jones, A., Renwick, P., Lashwood, A., El-Toukhy, T. (2014). New Developments in PGD. In: El-Toukhy, T., Braude, P. (eds) Preimplantation Genetic Diagnosis in Clinical Practice. Springer, London. https://doi.org/10.1007/978-1-4471-2948-6_18

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  • DOI: https://doi.org/10.1007/978-1-4471-2948-6_18

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  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-2947-9

  • Online ISBN: 978-1-4471-2948-6

  • eBook Packages: MedicineMedicine (R0)

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