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Chapter 14 - Preimplantation Genetic Diagnosis

Published online by Cambridge University Press:  24 December 2019

Kay Elder
Affiliation:
Bourn Hall Clinic, Cambridge
Brian Dale
Affiliation:
Centre for Assisted Reproduction, Naples
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Summary

Preimplantation genetic diagnosis (PGD) was developed in the late 1980s to help couples who are at risk of transmitting an inherited disease to their offspring, as an alternative to prenatal diagnosis during pregnancy. Prenatal diagnosis has the disadvantage that if the diagnosis shows the fetus to be affected, the couple must decide whether they wish to terminate the pregnancy or continue with the knowledge that their child is going to be affected by the genetic disease. PGD offers some of these couples an alternative, as the diagnosis is performed on the preimplantation embryo, and only embryos assessed as being unaffected by the genetic disease are transferred to the patient. The pregnancy is therefore initiated with the knowledge that the fetus is free from the disease, at that moment in time.

Type
Chapter
Information
In-Vitro Fertilization , pp. 311 - 330
Publisher: Cambridge University Press
Print publication year: 2020

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References

Elder, K, Cohen, J (eds.) (2007) Human Preimplantation Embryo Evaluation and Selection. Informa Press, London.Google Scholar
Dale, B, Ménézo, Y, Coppola, G (2015) Trends, Fads and Art. Journal of Assisted Reproduction and Genetics 32: 489493.CrossRefGoogle ScholarPubMed
Dale, B, Ménézo, Y, Elder, K (2016) Who benefits from PGS? Austin Journal of IVF 3: 1026.Google Scholar
Dahdouh, EM, Balayla, J, Audibert, F, Genetics Committee (2015) Technical update: preimplantation genetic diagnosis and screening. Journal of Obstetrics and Gynaecology Canada 37(5): 451463.CrossRefGoogle ScholarPubMed
De Ryck, M, Goossens, V, Kokkali, G, et al. (2017) ESHRE PGD Consortium data collection XIV–XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Human Reproduction 32(10): 19741994.CrossRefGoogle Scholar
Fauser, B (2006) Pre-implantation genetic screening: the end of an affair? Human Reproduction 23: 26222625.CrossRefGoogle Scholar
Geraedts, J, Sermon, K (2016) Preimplantation genetic screening 2.0: the theory. Molecular Human Reproduction 22(8): 539544.CrossRefGoogle Scholar
Gleicher, N, Orvieto, R (2017) Is the hypothesis of pre-implantation genetic screening (PGS) still supportable? A review. Journal of Ovarian Research 10: 17.CrossRefGoogle Scholar
Harper, J, Delhanty, JDA, Handyside, AH (2001) Preimplantation Genetic Diagnosis. Cambridge University Press, Cambridge, UK.CrossRefGoogle Scholar
Harper, J (2009) Preimplantation Genetic Diagnosis, 2nd edn. Cambridge University Press, Cambridge, UK.CrossRefGoogle Scholar
Hayward, J, Chitty, L (2018) Beyond screening for chromosomal abnormalities: advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Seminars in Fetal and Neonatal Medicine 23(2): 94101.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Repping, S (2014) Preimplantation genetic screening: back to the future. Human Reproduction 29: 18461850.CrossRefGoogle ScholarPubMed
Meaney, C, Norbury, G (2011) Non-invasive prenatal diagnosis. In: Theophilus, B, Rapley, R (eds.) PCR Mutation Detection Protocols. Methods in Molecular Biology (Methods and Protocols), vol 688. Humana Press, Springer Science + Business Media, London, pp. 155172.CrossRefGoogle Scholar
Munné, S (2018) Status of preimplantation genetic testing and embryo selection. Reproductive BioMedicine Online 28(4): 393396.CrossRefGoogle Scholar
Sanders, KD, Griffin, KD (2017) Chromosomal preimplantation genetic diagnosis: 25 years and counting. Journal of Fetal Medicine 4(2): 5156.CrossRefGoogle Scholar
Sermon, K, Capalbo, A, Cohen, J, et al. (2016) The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists and embryologists. Molecular Human Reproduction 22(8): 545557.CrossRefGoogle ScholarPubMed
Bolton, H, Graham, S, Van de Aa, N (2016) Mouse model of a chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nature Communications 7: 11165.CrossRefGoogle ScholarPubMed
Coonen, E, Harper, JC, Ramaekers, FCS, et al. (1994) Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescent in situ hybridisation. Human Genetics 54: 609615.Google Scholar
Delhanty, JDA, Griffin, DK, Handyside, AH, et al. (1993) Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization (FISH). Human Molecular Genetics 2(8): 11831185.CrossRefGoogle Scholar
Delhanty, JDA, Harper, JC, Ao, A, Handyside, AH, Winston, RML (1997) Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Human Genetics 99: 755760.CrossRefGoogle ScholarPubMed
Gardner, RL, Edwards, RG (1968) Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature 218: 346349.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP, Munné, S (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in-vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertility and Sterility 72(5): 837844.CrossRefGoogle ScholarPubMed
Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RM (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344(6268): 768770.CrossRefGoogle ScholarPubMed
Harper, JC, Coonan, E, Handyside, AH, et al. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenatal Diagnosis 15: 4149.CrossRefGoogle ScholarPubMed
Harper, J, Jackson, E, Sermon, K, et al. (2017) Adjuncts in the IVF laboratory: where is the evidence for add-on interventions. Human Reproduction 32(3): 485449.CrossRefGoogle Scholar
Hertig, AT, Rock, J, Adams, EC (1956) A description of 34 human ova within the first 17 days of development. American Journal of Anatomy 98: 435.CrossRefGoogle ScholarPubMed
James, RM, West, JD (1994) A chimaeric animal model for confined placental mosaicism. Human Genetics 93: 603604.CrossRefGoogle ScholarPubMed
Heyman, Y, Chesné, P, Chupin, D, Ménézo, Y (1987) Improvement of survival rate of frozen cattle blastocysts after transfer with trophoblastic vesicles. Theriogenology 27: 477484.CrossRefGoogle ScholarPubMed
Kallioniemi, A, Kallioniemi, OP, Sudar, D, et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818821.CrossRefGoogle ScholarPubMed
Lagalla, C, Tarozzi, N, Sciajno, R, et al. (2017) Embryos with morphokinetic abnormalities may develop into euploid blastocysts. Reproductive BioMedicine Online 34(2): 137146.CrossRefGoogle ScholarPubMed
Liss, J, Chromik, I, Szczyglinska, J, Jagiello, M, Lukaszuk, A, Lukaszuk, K (2016) Current methods for pre-implantation genetic diagnosis. Ginekologia Polska 87: 522526.CrossRefGoogle Scholar
Mackie, FL, Hemming, K, Allen, S, Morris, RK, Kilby, MD (2017) The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. British Journal of Obstetrics and Gynaecology 124: 3246.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Twisk, M, van Echten-Arends, J, et al. (2007) In vitro fertilization with preimplantation genetic screening. New England Journal of Medicine 357: 917.CrossRefGoogle ScholarPubMed
Munné, S, Scott, R, Sable, D, Cohen, J(1998) First pregnancies after preconception diagnosis of translocations of maternal origin. Fertility and Sterility 69(4): 675681.CrossRefGoogle ScholarPubMed
Munné, S, Wells, D (2003) Questions concerning the suitability of comparative genomic hybridization for preimplantation genetic diagnosis. Fertility and Sterility 80(4): 871872; discussion 875.CrossRefGoogle ScholarPubMed
Munné, S, Grifo, J, Wells, D (2016) Mosaicism: survival of the fittest vs no embryo left behind. Fertility and Sterility 105: 11461149.CrossRefGoogle Scholar
Platteau, P, Staessen, C, Michiels, A, et al. (2006) Which patients with recurrent implantation failure after IVF benefit from PGD for aneuploidy screening? Reproductive BioMedicine Online 12(3): 334339.CrossRefGoogle ScholarPubMed
Sagawa, T, Kuroda, T, Kato, K, et al. (2017) Cytogenetic analysis of the retained products of conception after missed abortion following blastocyst transfer: a retrospective, large-scale, single-centre study. Reproductive BioMedicine Online 34(2): 203210.CrossRefGoogle Scholar
Schattman, G (2018) Chromosomal mosaicism in human pre-implantation embryos: another fact that cannot be ignored. Fertility and Sterility 109: 5455.CrossRefGoogle Scholar
Schrurs, BM, Winston, RM, Handyside, AH (1993) Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization: evaluation using a chromosome 18-specific probe. Human Reproduction 8: 296301.CrossRefGoogle ScholarPubMed
Sermondade, N, Mandelbaum, J (2009) Mastenbroek controversy or how much ink is spilled on preimplantation genetic screening subject? Gynécologie Obstétrique & Fertilité 37(3): 252256.CrossRefGoogle ScholarPubMed
Swain, J (2019) Controversies in ART: can the IVF laboratory influence preimplantation embryo aneuploidy? Reproductive BioMedicine Online 39(4), published online September 2019.CrossRefGoogle ScholarPubMed
Tesarik, J (2018) Is blastomere multinucleation a safeguard against embryo aneuploidy? Back to the future. Reproductive BioMedicine Online 37(4): 506507.CrossRefGoogle ScholarPubMed
Treff, NR, Su, J, Tao, X, et al. (2010) Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertility and Sterility 94: 20172021.CrossRefGoogle ScholarPubMed
Vanneste, E, Voet, T, Melotte, C, et al.(2009) What next for pre-implantation genetic screening: high mitotic chromosome instability rate provides the biological basis for the low success rate. Human Reproduction 24: 26792682.CrossRefGoogle Scholar
Verlinsky, Y, Cieslak, J, Freidine, M, et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in situ hybridisation. Molecular Human Reproduction 10: 19271934.Google Scholar
Verlinsky, Y, Strom, C, Cieslak, J, et al. (1996) Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridisation analysis. Fertility and Sterility 66: 126129.CrossRefGoogle Scholar
Wells, D (2007) Future genetic and other technologies for assessing embryos. In: Elder, K, Cohen, J (eds.) Human Preimplantation Embryo Evaluation and Selection. Informa Press, London, pp. 287300.CrossRefGoogle Scholar
Zhang, WY, von Versen-Höynck, F, Kapphahn, KL, et al., (2019) Maternal and neonatal outcomes associated with trophectoderm biopsy. Fertility and Sterility. 112(2): 283290.e2.CrossRefGoogle ScholarPubMed
Elder, K, Cohen, J (eds.) (2007) Human Preimplantation Embryo Evaluation and Selection. Informa Press, London.Google Scholar
Dale, B, Ménézo, Y, Coppola, G (2015) Trends, Fads and Art. Journal of Assisted Reproduction and Genetics 32: 489493.CrossRefGoogle ScholarPubMed
Dale, B, Ménézo, Y, Elder, K (2016) Who benefits from PGS? Austin Journal of IVF 3: 1026.Google Scholar
Dahdouh, EM, Balayla, J, Audibert, F, Genetics Committee (2015) Technical update: preimplantation genetic diagnosis and screening. Journal of Obstetrics and Gynaecology Canada 37(5): 451463.CrossRefGoogle ScholarPubMed
De Ryck, M, Goossens, V, Kokkali, G, et al. (2017) ESHRE PGD Consortium data collection XIV–XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Human Reproduction 32(10): 19741994.CrossRefGoogle Scholar
Fauser, B (2006) Pre-implantation genetic screening: the end of an affair? Human Reproduction 23: 26222625.CrossRefGoogle Scholar
Geraedts, J, Sermon, K (2016) Preimplantation genetic screening 2.0: the theory. Molecular Human Reproduction 22(8): 539544.CrossRefGoogle Scholar
Gleicher, N, Orvieto, R (2017) Is the hypothesis of pre-implantation genetic screening (PGS) still supportable? A review. Journal of Ovarian Research 10: 17.CrossRefGoogle Scholar
Harper, J, Delhanty, JDA, Handyside, AH (2001) Preimplantation Genetic Diagnosis. Cambridge University Press, Cambridge, UK.CrossRefGoogle Scholar
Harper, J (2009) Preimplantation Genetic Diagnosis, 2nd edn. Cambridge University Press, Cambridge, UK.CrossRefGoogle Scholar
Hayward, J, Chitty, L (2018) Beyond screening for chromosomal abnormalities: advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Seminars in Fetal and Neonatal Medicine 23(2): 94101.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Repping, S (2014) Preimplantation genetic screening: back to the future. Human Reproduction 29: 18461850.CrossRefGoogle ScholarPubMed
Meaney, C, Norbury, G (2011) Non-invasive prenatal diagnosis. In: Theophilus, B, Rapley, R (eds.) PCR Mutation Detection Protocols. Methods in Molecular Biology (Methods and Protocols), vol 688. Humana Press, Springer Science + Business Media, London, pp. 155172.CrossRefGoogle Scholar
Munné, S (2018) Status of preimplantation genetic testing and embryo selection. Reproductive BioMedicine Online 28(4): 393396.CrossRefGoogle Scholar
Sanders, KD, Griffin, KD (2017) Chromosomal preimplantation genetic diagnosis: 25 years and counting. Journal of Fetal Medicine 4(2): 5156.CrossRefGoogle Scholar
Sermon, K, Capalbo, A, Cohen, J, et al. (2016) The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists and embryologists. Molecular Human Reproduction 22(8): 545557.CrossRefGoogle ScholarPubMed
Bolton, H, Graham, S, Van de Aa, N (2016) Mouse model of a chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nature Communications 7: 11165.CrossRefGoogle ScholarPubMed
Coonen, E, Harper, JC, Ramaekers, FCS, et al. (1994) Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescent in situ hybridisation. Human Genetics 54: 609615.Google Scholar
Delhanty, JDA, Griffin, DK, Handyside, AH, et al. (1993) Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization (FISH). Human Molecular Genetics 2(8): 11831185.CrossRefGoogle Scholar
Delhanty, JDA, Harper, JC, Ao, A, Handyside, AH, Winston, RML (1997) Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Human Genetics 99: 755760.CrossRefGoogle ScholarPubMed
Gardner, RL, Edwards, RG (1968) Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature 218: 346349.CrossRefGoogle ScholarPubMed
Gianaroli, L, Magli, MC, Ferraretti, AP, Munné, S (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in-vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertility and Sterility 72(5): 837844.CrossRefGoogle ScholarPubMed
Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RM (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344(6268): 768770.CrossRefGoogle ScholarPubMed
Harper, JC, Coonan, E, Handyside, AH, et al. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenatal Diagnosis 15: 4149.CrossRefGoogle ScholarPubMed
Harper, J, Jackson, E, Sermon, K, et al. (2017) Adjuncts in the IVF laboratory: where is the evidence for add-on interventions. Human Reproduction 32(3): 485449.CrossRefGoogle Scholar
Hertig, AT, Rock, J, Adams, EC (1956) A description of 34 human ova within the first 17 days of development. American Journal of Anatomy 98: 435.CrossRefGoogle ScholarPubMed
James, RM, West, JD (1994) A chimaeric animal model for confined placental mosaicism. Human Genetics 93: 603604.CrossRefGoogle ScholarPubMed
Heyman, Y, Chesné, P, Chupin, D, Ménézo, Y (1987) Improvement of survival rate of frozen cattle blastocysts after transfer with trophoblastic vesicles. Theriogenology 27: 477484.CrossRefGoogle ScholarPubMed
Kallioniemi, A, Kallioniemi, OP, Sudar, D, et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818821.CrossRefGoogle ScholarPubMed
Lagalla, C, Tarozzi, N, Sciajno, R, et al. (2017) Embryos with morphokinetic abnormalities may develop into euploid blastocysts. Reproductive BioMedicine Online 34(2): 137146.CrossRefGoogle ScholarPubMed
Liss, J, Chromik, I, Szczyglinska, J, Jagiello, M, Lukaszuk, A, Lukaszuk, K (2016) Current methods for pre-implantation genetic diagnosis. Ginekologia Polska 87: 522526.CrossRefGoogle Scholar
Mackie, FL, Hemming, K, Allen, S, Morris, RK, Kilby, MD (2017) The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. British Journal of Obstetrics and Gynaecology 124: 3246.CrossRefGoogle ScholarPubMed
Mastenbroek, S, Twisk, M, van Echten-Arends, J, et al. (2007) In vitro fertilization with preimplantation genetic screening. New England Journal of Medicine 357: 917.CrossRefGoogle ScholarPubMed
Munné, S, Scott, R, Sable, D, Cohen, J(1998) First pregnancies after preconception diagnosis of translocations of maternal origin. Fertility and Sterility 69(4): 675681.CrossRefGoogle ScholarPubMed
Munné, S, Wells, D (2003) Questions concerning the suitability of comparative genomic hybridization for preimplantation genetic diagnosis. Fertility and Sterility 80(4): 871872; discussion 875.CrossRefGoogle ScholarPubMed
Munné, S, Grifo, J, Wells, D (2016) Mosaicism: survival of the fittest vs no embryo left behind. Fertility and Sterility 105: 11461149.CrossRefGoogle Scholar
Platteau, P, Staessen, C, Michiels, A, et al. (2006) Which patients with recurrent implantation failure after IVF benefit from PGD for aneuploidy screening? Reproductive BioMedicine Online 12(3): 334339.CrossRefGoogle ScholarPubMed
Sagawa, T, Kuroda, T, Kato, K, et al. (2017) Cytogenetic analysis of the retained products of conception after missed abortion following blastocyst transfer: a retrospective, large-scale, single-centre study. Reproductive BioMedicine Online 34(2): 203210.CrossRefGoogle Scholar
Schattman, G (2018) Chromosomal mosaicism in human pre-implantation embryos: another fact that cannot be ignored. Fertility and Sterility 109: 5455.CrossRefGoogle Scholar
Schrurs, BM, Winston, RM, Handyside, AH (1993) Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization: evaluation using a chromosome 18-specific probe. Human Reproduction 8: 296301.CrossRefGoogle ScholarPubMed
Sermondade, N, Mandelbaum, J (2009) Mastenbroek controversy or how much ink is spilled on preimplantation genetic screening subject? Gynécologie Obstétrique & Fertilité 37(3): 252256.CrossRefGoogle ScholarPubMed
Swain, J (2019) Controversies in ART: can the IVF laboratory influence preimplantation embryo aneuploidy? Reproductive BioMedicine Online 39(4), published online September 2019.CrossRefGoogle ScholarPubMed
Tesarik, J (2018) Is blastomere multinucleation a safeguard against embryo aneuploidy? Back to the future. Reproductive BioMedicine Online 37(4): 506507.CrossRefGoogle ScholarPubMed
Treff, NR, Su, J, Tao, X, et al. (2010) Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertility and Sterility 94: 20172021.CrossRefGoogle ScholarPubMed
Vanneste, E, Voet, T, Melotte, C, et al.(2009) What next for pre-implantation genetic screening: high mitotic chromosome instability rate provides the biological basis for the low success rate. Human Reproduction 24: 26792682.CrossRefGoogle Scholar
Verlinsky, Y, Cieslak, J, Freidine, M, et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in situ hybridisation. Molecular Human Reproduction 10: 19271934.Google Scholar
Verlinsky, Y, Strom, C, Cieslak, J, et al. (1996) Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridisation analysis. Fertility and Sterility 66: 126129.CrossRefGoogle Scholar
Wells, D (2007) Future genetic and other technologies for assessing embryos. In: Elder, K, Cohen, J (eds.) Human Preimplantation Embryo Evaluation and Selection. Informa Press, London, pp. 287300.CrossRefGoogle Scholar
Zhang, WY, von Versen-Höynck, F, Kapphahn, KL, et al., (2019) Maternal and neonatal outcomes associated with trophectoderm biopsy. Fertility and Sterility. 112(2): 283290.e2.CrossRefGoogle ScholarPubMed

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