Skip to main content
Log in

The preimplantation genetic diagnosis of genetic diseases

  • Review
  • Published:
Journal of in Vitro Fertilization and Embryo Transfer Aims and scope Submit manuscript

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. The NICHD National Registry for Amniocentesis Study Group: Midtrimester amniocentesis for prenatal diagnosis: Safety and accuracy. JAMA 1976;236:1471–1476

    Google Scholar 

  2. MRC (Medical Research Council, Great Britain): An assessment of the hazards of amniocentesis. Brit J Obstet Gynnecol 1978;85:Suppl No 2

  3. MRC (Medical Research Council, Canada): Diagnosis of genetic disease by amniocentesis during the second trimesfer of pregnancy, MRC, Report No. 5, Ottawa, Canada, 1977

    Google Scholar 

  4. Kazy Z, Rozovsky IS, Bakharev VA: Chorion biopsy in early pregnancy: A method for early prenatal diagnosis for inherited disorders. Prenat Diagn 1982;2:39–45

    Google Scholar 

  5. Old JM, Ward RTH, Petrou M, Karagozlu F, Modell B, Weatherall DJ: First trimester fetal diagnosis for haemoglobinopathies: Three cases. Lancet 1982;2:1413–1416

    Google Scholar 

  6. Rhoads GG, Jackson LG, Schlesselman SE, et al.: The safety and efficacy of choriomic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989;320:609–617

    Google Scholar 

  7. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. Lancet 1989;1:1–7

    Google Scholar 

  8. Edwars RG: Conception in the Human Female, London, Academic Press, 1980

    Google Scholar 

  9. Saiki RK, Bvgawan TL, Horn GT, Mullis KB, Erlich HA: Analysis of enzymatically amplified b-globin and HLA-DQ DNA with alle-specific oligonucleotide probes. Nature 1986;24:163–166

    Google Scholar 

  10. Li H, Gyllensten UB, Cui X, Saiki RK, Erlich HA, Arnheim N: Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 1988;335:414–417

    Google Scholar 

  11. Boehnke M, Arnheim N, Honghua L, Collins FS: Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: Experimental design considerations. Am J Hum Genet 1989;45:21–32

    Google Scholar 

  12. Laws-King A, Trounson A, Sathananthan H, Kola I: Fertilization of human oocytes by micro-injection of a single spermatozoa under the zona pellucida. Fertil Steril 1987;48:637

    Google Scholar 

  13. Van Blerkom J, Henry G: Cytogenetic analysis of living human oocytes: Cellular basis and development consequences of perturbations in chromosomal organization and complement. Hum Reprod 1988;3:777–790

    Google Scholar 

  14. Plachot M: Chromosome analysis of spontaneous abortions after IVF. A European survey. Hum Reprod 1989;4:425–429

    Google Scholar 

  15. Verlinsky Y, Pergament E, Binor Z, Rawlins R: Genetic analysis of human embryos prior to implantation: Future applications of in-vitro fertilization in the treatment and prevention of human genetic diseases.In Future Aspects in Human in Vitro Fertilization, W Ferchlinger, P Kemeter (eds). Berlin, Springer-Verlag, 1987, pp 262–266

    Google Scholar 

  16. 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;299:22–24

    Google Scholar 

  17. Gardner D, Leese HJ: Non-invasive measurement of nutrient uptake by single culture preimplantation mouse embryos. Hum Reprod 1986;1:25–27

    Google Scholar 

  18. Hardy K, Hooper MA, Handyside AH, Rutherford AJ, Winston RML, Leese HJ: Non-invasive measurement of glucose and pyruvate uptake by individual human oocytes and proimplantation embryos. Hum Reprod 1989;4:188–191

    Google Scholar 

  19. Verlinsky Y, Pergament E, Adresen P, Enriquez G, Strom C: Genetic analysis of polar body DNA. A new approach to preimplantation genetic diagnosis diagnosis. ASHG 1989 (in press)

  20. McLaren A: Prenatal diagnosis before implantation: opportunities and problems Prenat Diagn 1989;5:85–90

    Google Scholar 

  21. Verlinsky Y, Zeunert P, Pergament E: Genetic analysis of abnormal human embryos: An approach to preimplantation genetic diagnosis. ASHG 1985;37:A227

    Google Scholar 

  22. Angell RR, Templeton AA, Aitken RJ: Chromosome studies in human in vitro fertilization. Hum Genet 1986;42:1–7

    Google Scholar 

  23. Watt JL, Templeton AA, Messinis I, Bell L, Cunningham P, Duncan RO: Trisomy 1 in an 8-cell human pre-embryo. J Med Genet 1987;24:60–64

    Google Scholar 

  24. Papadopoulos G, Randall J, Templeton AA: The frequency of chromosome anomalies in human unfertilized oocytes and uncleaved zygotes after insemination in vitro. Hum Reprod 1989;4:568–573

    Google Scholar 

  25. Monk M, Handyside A, Hardy K, Whittingham D: Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosy transferase in a mouse model for Lesch-Nyhan syndrome. Lancet 1987;2:423–425

    Google Scholar 

  26. Handyside AH, Penketh RJA, Winston RML, Pattinson JK, Delhanty JDA, Tuddenham EGD: Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989;1:347–349

    Google Scholar 

  27. Edwards RG, Hollands P: New advances in human embryology: Implications of the preimplantation diagnosis of genetic disease. Hum Reprod 1988;3:549–556

    Google Scholar 

  28. Verlinsky Y, Strom C, Ginsberg N, Pergament E: Preimplantation genetic diagnosis: Approaches and implications. Presented at the 37th Annual Meeting, ACOG, Atlanta, Georgia, May 22–25, 1989

  29. Trounson A, Mohr L: Human pregnancy following cryopreservation, thawing and transfer of an eight-cell embryo. Nature 1983;305:707–719

    Google Scholar 

  30. Gardner RL, Edwards RG: Control of the sex ratio at term in the rabbit by transferring sexed blastocysts. Nature 1968; 218:346–348

    Google Scholar 

  31. Monk M, Muggleton-Harris AL, Rawlings E, Whittingham DG: Preimplantation diagnosis of HPRT-deficient male and carrier female mouse embryos by trophectoderm biopsy. Hum Reprod 1988;3:377–381

    Google Scholar 

  32. Summers PM, Campbell JM, Miller MW: Normal in-vivo development of marmoset monkey embryos after trophectoderm biopsy. Hum Reprod 1988;3:389–393

    Google Scholar 

  33. Verlinsky Y, Pergament E, Strom C: Trophodermal biopsy at the blastocyst stage: A possible approach to preimplantation genetic diagnosis. ASHG 1988;43:A251

    Google Scholar 

  34. Verlinsky Y, Strom C, Pergament E, Andresen P: Preimplantation genetic diagnosis using the polymerase chain reaction. Presented at the VI World Congress in Vitro Fertilization and Alternate Assisted Reproduction, Jerusalem, Israel, 1989, p 50

  35. Read AP, Donnai D: Preimplantation diagnosis with the polymerase chain reaction. Br Med J 1989;299:3

    Google Scholar 

  36. Kwok S, Higuchi R: Avoiding false positives with PCR. Nature 1989;339:237–238

    Google Scholar 

  37. Strom C, Verlinsky Y, Pergament E: Preimplantation genetic diagnosis using the polymerase chain reaction (PCR): Elimination of contaminating DNA sequences ASHG 1989 (in press)

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Verlinsky, Y., Pergament, E. & Strom, C. The preimplantation genetic diagnosis of genetic diseases. J Assist Reprod Genet 7, 1–5 (1990). https://doi.org/10.1007/BF01133875

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01133875

Key Words

Navigation