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Diagnosis of Genetic Defects in Eggs and Embryos

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Antenatal Diagnosis of Fetal Abnormalities

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Abstract

Genetic risk for offspring of some couples is high. One in four of their children will be affected if both parents carry the same recessive gene, one in two if one parent carries a dominant disease mutation. For such couples, the genetic status of the fetus may be determined during pregnancy by diagnostic tests on samples of chorionic villus or on fetal cells obtained by amniocentesis. If the fetus proves to be affected, the couple has the option to terminate the pregnancy by abortion. Some couples may suffer the considerable trauma of repeated pregnancy terminations. Hence, attention has been focused on diagnosis in embryos before implantation.

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References

  1. Angell RR, Hillier SG, West JD, Glasier AF, Rodger MW, Baird DT. Chromosome anomalies in early human embryos. J Reprod Fertil 1988 (Suppl) 36:73–81.

    Google Scholar 

  2. Plachot M, Veiga A, Montagut J et al. Are clinical and biological IVF parameters correlated with chromosomal disorders in early Ife: a multicentric study. Hum Reprod 1988; 3:627–35.

    PubMed  CAS  Google Scholar 

  3. Monk M, Handyside A, Hardy K, Whittingham D. Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome. Lancet 1987; ii:423–6.

    Google Scholar 

  4. Monk M. Pre-implantation diagnosis. Bioessays 1988; 8:184–9.

    Article  PubMed  CAS  Google Scholar 

  5. West J. The use of DNA probes in preimplantation and prenatal diagnosis. Mol Reprod Dev 1989; 1:138–45.

    Article  PubMed  CAS  Google Scholar 

  6. Handyside AH, Pattinson JK, Penketh RJA, Delhanty JDA, Winston RML, Tiddenham EGD. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989; i:347–9.

    Google Scholar 

  7. Handyside AH, Kontogianni EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344:768–70.

    Article  PubMed  CAS  Google Scholar 

  8. Holding C, Monk M. Diagnosis of beta-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet 1989; ii:532–5.

    Google Scholar 

  9. Monk M, Holding C. Amplification of a B-haemoglobin sequence in individual human oocytes and polar bodies. Lancet 1990; 335:985–8.

    Article  PubMed  CAS  Google Scholar 

  10. Buster JE, Bustillo M, Rodi IA et al. Biologic and morphologic development of human ova recovered by non-surgical uterine lavage. Am J Obstet Gynecol 1985; 153; 211–17.

    PubMed  CAS  Google Scholar 

  11. Sauer MV, Bustillo M, Rodi IA, Gorrill MJ, Buster JE. In vivo blastocyst production and ovum yield among fertile women. Hum Reprod 1987; 2:701.

    PubMed  CAS  Google Scholar 

  12. Sauer MV, Bustillo M, Gorrill MJ, Louw JA, Marshall JR, Buster JE. An instrument for the recovery of preimplantation uterine ova. Obstet Gynecol 1988; 71:804–6.

    PubMed  CAS  Google Scholar 

  13. Formigli L, Formigli G, Roccio C. Donation of fertilized uterine ova to infertile women. Fertil Steril 1987; 47:162–5.

    PubMed  CAS  Google Scholar 

  14. Formigli L, Roccio C, Belotti G, Stangalini A, Coglitore MT, Formigli G. Non-surgical flushing of the uterus for pre-embryo recovery: possible clinical applications. Hum Reprod 1990; 5:329–35.

    PubMed  CAS  Google Scholar 

  15. Sauer MV, Anderson RE, Paulson RJ. A trial of superovulation in ovum donors undergoing uterine lavage. Fertil Steril 1989; 51:131–4.

    PubMed  CAS  Google Scholar 

  16. Edwards RG. Clinical aspects of in vitro vertilisation. In: Embryo research — yes or no. The Ciba Foundation Symposium, 1986; 39–42.

    Google Scholar 

  17. Braude PR. Fertilisation of human oocytes and culture of human preimplantation embryos. In: Monk M, ed. Mammalian development — a practical approach. Oxford: IRL Press, 1987; 281–306.

    Google Scholar 

  18. Edwards RG, Holland P. New advances in human embryology: implications of the preimplantation diagnosis of genetic disease. Hum Reprod 1988; 3:549–56.

    PubMed  CAS  Google Scholar 

  19. Angell RR, Aitken RJ, Van Look PFA, Lumsden MA, Templeton AA. Chromosome abnormalities in human embryos after in vitro fertilisation. Nature 1983; 303:336–8.

    Article  PubMed  CAS  Google Scholar 

  20. Plachot M, Junca AM, Mandelbaum J, DeGrouchy J, Salat-Baroux J, Cohen J. Chromosome investigations in early life. 2. Human preimplantation embryos. Hum Reprod 1987; 2:29–35.

    PubMed  CAS  Google Scholar 

  21. Iizuka R, Kaneko S, Aoki R, Kobayashi T. Sexing of human sperm by discontinuous Percoli density gradient and its clinical application. Hum Reprod 1987; 2:573–5.

    PubMed  CAS  Google Scholar 

  22. Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom, C. Analysis of the first polar body: preconceptual genetic diagnosis. Hum Reprod 1990; in press.

    Google Scholar 

  23. Monk M, Handyside A. Sexing of preimplantation mouse embryos by measurement of X-linked gene dosage in a single blastomere. J Reprod Fertil 1988; 82:365–8.

    Article  PubMed  Google Scholar 

  24. Krzyminska UB, Lutjen J, O’Neill CO. Assessment of the viability and pregnancy potential of mouse embryos biopsied at different preimplantation stages of development. Hum Reprod 1990; 5:203–8.

    PubMed  CAS  Google Scholar 

  25. Monk M, Muggleton-Harris A, Rawlings E, Whittingham D. Preimplantation diagnosis of HPRT-deficient male and carrier female mouse embryos by trophectoderm biopsy. Hum Reprod 1988; 3:377–81.

    PubMed  CAS  Google Scholar 

  26. Gomez CM, Muggleton-Harris AL, Whittingham DG, Hood LE, Readhead C. Rapid preimplantation detection of mutant (shiverer) and normal alleles of the mouse myelin basic protein gene allowing selective implantation and birth of live young. Proc Nat Acad Sci USA 1990; 87:4481–4.

    Article  PubMed  CAS  Google Scholar 

  27. Summers PM, Campbell JM, Miller MW. Normal in vivo development of marmoset monkeys after trophectoderm biopsy. Hum Reprod 1988; 3:389–93.

    PubMed  CAS  Google Scholar 

  28. Fishel SB, Edwards RG, Evans CJ. Human chorionic gonadotropin secreted in preimplantation embryos cultures in vitro. Science 1984; 223:816–18.

    Article  PubMed  CAS  Google Scholar 

  29. Cocchiara R, Di Trapani G, Azzolina A et al. Isolation of a histamine releasing factor from human embryo culture medium after in vitro fertilisation. Hum Reprod 1987; 2:341–4.

    PubMed  CAS  Google Scholar 

  30. Gardner DK, Leese HJ. Non-invasive measurement of nutrient uptake by single cultured preimplantation mouse embryos. Hum Reprod 1986; 1:25–7.

    PubMed  CAS  Google Scholar 

  31. Gardner DK, Leese HJ. Assessment of embryo viability prior to transfer by the noninvasive measurement of glucose uptake. J Exp Zool 1987; 242:103–5.

    Article  PubMed  CAS  Google Scholar 

  32. Leese HJ, Hooper MAK, Edwards RG, Ashwood-Smith MJ. Pyruvate uptake by human oocytes and embryos. Hum Reprod 1986; 1:181–2.

    PubMed  CAS  Google Scholar 

  33. Hardy K, Hooper MAK, Handyside AH, Rutherford AJ, Winston RML, Leese HJ. Noninvasive measurement of glucose and pyruvate uptake by individual human oocytes and preimplantation embryos. Hum Reprod 1989; 4:188–91.

    PubMed  CAS  Google Scholar 

  34. Boue A, Boue J, Gropp A. Cytogenetics of pregnancy wastage. Adv Hum Genet 1985; 14:1–57.

    PubMed  CAS  Google Scholar 

  35. Severova EL, Dyban AP. The live selection of mouse early embryos by sex and karyotype. Ontogenez 1984; 15:585–92.

    PubMed  CAS  Google Scholar 

  36. West JD, Gosden JR, Angell RR et al. Sexing the human pre-embryo by DNA-DNA in situ hybridisation. Lancet 1987; i:1345–7.

    Google Scholar 

  37. Jones KW, Singh L, Edwards RG. The use of probes for the Y chromosome in preimplantation embryo cells. Hum Reprod 1987; 2:439–45.

    PubMed  CAS  Google Scholar 

  38. Penketh RJA, Delhanty JDA, Vanden Barghe JA et al. Rapid sexing of human embryos by nonradioactive in situ hybridisation: potential for preimplantation diagnosis of X-linked disorders. Prenat Diagn 1989; 9:489–500.

    Article  PubMed  CAS  Google Scholar 

  39. West JD, Gosden JR, Angell RR et al. Sexing whole human pre-embryos by in-situ hybridisation with a Y-chromosome specific DNA probe. Hum Reprod 1988; 3:1010–19.

    PubMed  CAS  Google Scholar 

  40. Patrick AD. Prenatal diagnosis of inherited diseases. In: Rodeck CH, Nicolaides KH, eds. Prenatal diagnosis. Proceedings of the Xlth Study Group of the Royal College of Obstetricians and Gynaecologists. Chichester: Wiley, 1984; 121–32.

    Google Scholar 

  41. Monk M. Biochemical microassays for X-chromosome-linked enzymes HPRT and PGK. In: Monk M, ed. Mammalian development — a practical approach. Oxford: IRL Press, 1987; 139–61.

    Google Scholar 

  42. Benson C, Monk M. Microassay for adenosine deaminase, the enzyme lacking in some forms of immunodeficiency, in mouse preimplantation embryos. Hum Reprod 1988; 3:1004–9.

    PubMed  CAS  Google Scholar 

  43. Braude PR, Monk M, Pickering SJ, Cant A, Johnson MH. Measurement of HPRT activity in the human unfertilised oocyte and pre-embryo. Prenat Diagn 1989; 9:839–50.

    Article  PubMed  CAS  Google Scholar 

  44. West JD, Flockhart JH, Angell RR et al. Glucose phosphate isomerase activity in mouse and human eggs and pre-embryos. Hum Reprod 1989; 4:82–5.

    PubMed  CAS  Google Scholar 

  45. Saiki RK, Scharf S, Faloona F et al. Enzymatic amplification of B-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia. Science 1985; 230:1350–4.

    Article  PubMed  CAS  Google Scholar 

  46. Saiki RK, Gelfand DH, Stoffel S et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239:487–91.

    Article  PubMed  CAS  Google Scholar 

  47. Li H, Gyllensten UÈ, Cui X, Saiki RK, Erlich HA, Arnheim N. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 1988; 335:414–17.

    Article  PubMed  CAS  Google Scholar 

  48. Coutelle C, Williams C, Handyside A, Hardy K, Winston R, Williamson R. Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis. Br Med J 1989; 299:22–4.

    Article  CAS  Google Scholar 

  49. Strom CM, Verlinsky Y, Milayeva S et al. Preconception genetic diagnosis of cystic fibrosis. Lancet 1990; 336:306–7.

    Article  PubMed  CAS  Google Scholar 

  50. Embury S, Scharf S, Saiki R et al. Rapid prenatal diagnosis of sickle cell anaemia by a new method of DNA analysis. N Engl J Med 1987; 316:656–61.

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. M. Monk
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Editors and Affiliations

  1. Clarendon Wing, Leeds General Infirmary, LS2 9NS, Leeds, UK

    James O. Drife MD, FRCSEd, FRCOG (Professor of Obstetrics and Gynaecology) (Professor of Obstetrics and Gynaecology)

  2. Department of Medical Genetics, St Mary’s Hospital, Whitworth Park, M13 0JH, Manchester, UK

    Dian Donnai MBBS, FRCP, DCH, DObst, RCOG (Consultant Clinical Geneticist) (Consultant Clinical Geneticist)

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© 1991 Springer-Verlag London Limited

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Monk, M. (1991). Diagnosis of Genetic Defects in Eggs and Embryos. In: Drife, J.O., Donnai, D. (eds) Antenatal Diagnosis of Fetal Abnormalities. Springer, London. https://doi.org/10.1007/978-1-4471-1854-1_11

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  • DOI: https://doi.org/10.1007/978-1-4471-1854-1_11

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1856-5

  • Online ISBN: 978-1-4471-1854-1

  • eBook Packages: Springer Book Archive

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