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The Western Journal of Medicine logoLink to The Western Journal of Medicine
. 1993 Sep;159(3):301–307.

Preimplantation diagnosis.

J D Goldberg 1, M C Martin 1, R V Lebo 1, R A Pedersen 1
PMCID: PMC1011342  PMID: 8236971

Abstract

Preimplantation embryonic biopsy and analysis offer couples at increased risk of having offspring affected with a genetic disorder the possibility of an early prenatal diagnosis. For many couples, this approach would avoid the issue of the selective termination of affected fetuses. Substantial advances have been made in the area of preimplantation diagnosis, but the possible difficulties with this approach cannot be ignored.

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Selected References

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  1. Biggers J. D., Papaioannou V. E. Postnatal compensatory growth of manipulated mouse embryos. Hum Reprod. 1991 Jan;6(1):36–44. doi: 10.1093/oxfordjournals.humrep.a137255. [DOI] [PubMed] [Google Scholar]
  2. Braude P. R., Monk M., Pickering S. J., Cant A., Johnson M. H. Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo. Prenat Diagn. 1989 Dec;9(12):839–850. doi: 10.1002/pd.1970091204. [DOI] [PubMed] [Google Scholar]
  3. Bustillo M., Buster J. E., Cohen S. W., Thorneycroft I. H., Simon J. A., Boyers S. P., Marshall J. R., Seed R. W., Louw J. A., Seed R. G. Nonsurgical ovum transfer as a treatment in infertile women. Preliminary experience. JAMA. 1984 Mar 2;251(9):1171–1173. [PubMed] [Google Scholar]
  4. Cai S. P., Chang C. A., Zhang J. Z., Saiki R. K., Erlich H. A., Kan Y. W. Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes. Blood. 1989 Feb;73(2):372–374. [PubMed] [Google Scholar]
  5. 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. BMJ. 1989 Jul 1;299(6690):22–24. doi: 10.1136/bmj.299.6690.22. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Cui K. H., Putland R. A., Seamark R. F., Matthews C. D. Precise sex selected births of mice following single cell embryo biopsy and Y-linked testis-specific gene analysis. Hum Reprod. 1993 Apr;8(4):621–626. doi: 10.1093/oxfordjournals.humrep.a138107. [DOI] [PubMed] [Google Scholar]
  7. Dandekar P. V., Martin M. C., Glass R. H. Polyovular follicles associated with human in vitro fertilization. Fertil Steril. 1988 Mar;49(3):483–486. [PubMed] [Google Scholar]
  8. Dokras A., Sargent I. L., Gardner R. L., Barlow D. H. Human trophectoderm biopsy and secretion of chorionic gonadotrophin. Hum Reprod. 1991 Nov;6(10):1453–1459. doi: 10.1093/oxfordjournals.humrep.a137288. [DOI] [PubMed] [Google Scholar]
  9. Gardner R. L., Edwards R. G. Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature. 1968 Apr 27;218(5139):346–349. doi: 10.1038/218346a0. [DOI] [PubMed] [Google Scholar]
  10. Gomez C. M., Muggleton-Harris A. L., Whittingham D. G., Hood L. E., 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 Natl Acad Sci U S A. 1990 Jun;87(12):4481–4484. doi: 10.1073/pnas.87.12.4481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Gordon J. W., Talansky B. E. Assisted fertilization by zona drilling: a mouse model for correction of oligospermia. J Exp Zool. 1986 Sep;239(3):347–354. doi: 10.1002/jez.1402390306. [DOI] [PubMed] [Google Scholar]
  12. Grifo J. A., Boyle A., Fischer E., Lavy G., DeCherney A. H., Ward D. C., Sanyal M. K. Preembryo biopsy and analysis of blastomeres by in situ hybridization. Am J Obstet Gynecol. 1990 Dec;163(6 Pt 1):2013–2019. doi: 10.1016/0002-9378(90)90789-a. [DOI] [PubMed] [Google Scholar]
  13. Grifo J. A., Boyle A., Tang Y. X., Ward D. C. Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. Arch Pathol Lab Med. 1992 Apr;116(4):393–397. [PubMed] [Google Scholar]
  14. Han Y. M., Yoo O. J., Lee K. K. Sex determination in single mouse blastomeres by polymerase chain reaction. J Assist Reprod Genet. 1993 Feb;10(2):151–156. doi: 10.1007/BF01207739. [DOI] [PubMed] [Google Scholar]
  15. Handyside A. H., Kontogianni E. H., Hardy K., Winston R. M. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990 Apr 19;344(6268):768–770. doi: 10.1038/344768a0. [DOI] [PubMed] [Google Scholar]
  16. Handyside A. H., Lesko J. G., Tarín J. J., Winston R. M., Hughes M. R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992 Sep 24;327(13):905–909. doi: 10.1056/NEJM199209243271301. [DOI] [PubMed] [Google Scholar]
  17. Hardy K., Handyside A. H. Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Arch Pathol Lab Med. 1992 Apr;116(4):388–392. [PubMed] [Google Scholar]
  18. Holding C., Monk M. Diagnosis of beta-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet. 1989 Sep 2;2(8662):532–535. doi: 10.1016/s0140-6736(89)90655-7. [DOI] [PubMed] [Google Scholar]
  19. Kogan S. C., Doherty M., Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987 Oct 15;317(16):985–990. doi: 10.1056/NEJM198710153171603. [DOI] [PubMed] [Google Scholar]
  20. Kola I., Wilton L. Preimplantation embryo biopsy: detection of trisomy in a single cell biopsied from a four-cell mouse embryo. Mol Reprod Dev. 1991 May;29(1):16–21. doi: 10.1002/mrd.1080290104. [DOI] [PubMed] [Google Scholar]
  21. Krzyminska U. B., Lutjen J., O'Neill C. Assessment of the viability and pregnancy potential of mouse embryos biopsied at different preimplantation stages of development. Hum Reprod. 1990 Feb;5(2):203–208. doi: 10.1093/oxfordjournals.humrep.a137070. [DOI] [PubMed] [Google Scholar]
  22. Krzyminska U., O'Neill C. The effects of cryopreservation and thawing on the development in vitro and in vivo of biopsied 8-cell mouse embryos. Hum Reprod. 1991 Jul;6(6):832–835. doi: 10.1093/oxfordjournals.humrep.a137437. [DOI] [PubMed] [Google Scholar]
  23. Kunieda T., Xian M., Kobayashi E., Imamichi T., Moriwaki K., Toyoda Y. Sexing of mouse preimplantation embryos by detection of Y chromosome-specific sequences using polymerase chain reaction. Biol Reprod. 1992 Apr;46(4):692–697. doi: 10.1095/biolreprod46.4.692. [DOI] [PubMed] [Google Scholar]
  24. Levinson G., Fields R. A., Harton G. L., Palmer F. T., Maddalena A., Fugger E. F., Schulman J. D. Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences. Hum Reprod. 1992 Oct;7(9):1304–1313. doi: 10.1093/oxfordjournals.humrep.a137846. [DOI] [PubMed] [Google Scholar]
  25. Li H. H., Gyllensten U. B., Cui X. F., Saiki R. K., Erlich H. A., Arnheim N. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature. 1988 Sep 29;335(6189):414–417. doi: 10.1038/335414a0. [DOI] [PubMed] [Google Scholar]
  26. Liu J., Lissens W., Devroey P., Van Steirteghem A., Liebaers I. Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell. Lancet. 1992 May 16;339(8803):1190–1192. doi: 10.1016/0140-6736(92)91133-s. [DOI] [PubMed] [Google Scholar]
  27. Monk M., Kenealy M. R., Mohadjerani S. Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation--prelude to preimplantation diagnosis. Prenat Diagn. 1993 Jan;13(1):45–53. doi: 10.1002/pd.1970130107. [DOI] [PubMed] [Google Scholar]
  28. Monk M., Muggleton-Harris A. L., Rawlings E., Whittingham D. G. Pre-implantation diagnosis of HPRT-deficient male and carrier female mouse embryos by trophectoderm biopsy. Hum Reprod. 1988 Apr;3(3):377–381. doi: 10.1093/oxfordjournals.humrep.a136711. [DOI] [PubMed] [Google Scholar]
  29. Morsy M., Takeuchi K., Kaufmann R., Veeck L., Hodgen G. D., Beebe S. J. Preclinical models for human pre-embryo biopsy and genetic diagnosis. II. Polymerase chain reaction amplification of deoxyribonucleic acid from single lymphoblasts and blastomeres with mutation detection. Fertil Steril. 1992 Feb;57(2):431–438. doi: 10.1016/s0015-0282(16)54859-6. [DOI] [PubMed] [Google Scholar]
  30. Muggleton-Harris A. L., Findlay I. In-vitro studies on 'spare' human preimplantation embryos in culture. Hum Reprod. 1991 Jan;6(1):85–92. doi: 10.1093/oxfordjournals.humrep.a137264. [DOI] [PubMed] [Google Scholar]
  31. Mullis K., Faloona F., Scharf S., Saiki R., Horn G., Erlich H. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):263–273. doi: 10.1101/sqb.1986.051.01.032. [DOI] [PubMed] [Google Scholar]
  32. Navidi W., Arnheim N. Using PCR in preimplantation genetic disease diagnosis. Hum Reprod. 1991 Jul;6(6):836–849. doi: 10.1093/oxfordjournals.humrep.a137438. [DOI] [PubMed] [Google Scholar]
  33. Pickering S. J., McConnell J. M., Johnson M. H., Braude P. R. Reliability of detection by polymerase chain reaction of the sickle cell-containing region of the beta-globin gene in single human blastomeres. Hum Reprod. 1992 May;7(5):630–636. doi: 10.1093/oxfordjournals.humrep.a137710. [DOI] [PubMed] [Google Scholar]
  34. Readhead C., Muggleton-Harris A. L. The shiverer mouse mutation shi/shi: rescue and preimplantation detection. Hum Reprod. 1991 Jan;6(1):93–100. doi: 10.1093/oxfordjournals.humrep.a137265. [DOI] [PubMed] [Google Scholar]
  35. Roberts C., Lutjen J., Krzyminska U., O'Neill C. Cytogenetic analysis of biopsied preimplantation mouse embryos: implications for prenatal diagnosis. Hum Reprod. 1990 Feb;5(2):197–202. doi: 10.1093/oxfordjournals.humrep.a137069. [DOI] [PubMed] [Google Scholar]
  36. Robertson J. A. Legal and ethical issues arising from the new genetics. J Reprod Med. 1992 Jun;37(6):521–524. [PubMed] [Google Scholar]
  37. Sheardown S. A., Findlay I., Turner A., Greaves D., Bolton V. N., Mitchell M., Layton D. M., Muggleton-Harris A. L. Preimplantation diagnosis of a human beta-globin transgene in biopsied trophectoderm cells and blastomeres of the mouse embryo. Hum Reprod. 1992 Oct;7(9):1297–1303. doi: 10.1093/oxfordjournals.humrep.a137845. [DOI] [PubMed] [Google Scholar]
  38. Strom C. M., Rechitsky S., Verlinsky Y. Reliability of gender determination using the polymerase chain reaction (PCR) for single cells. J In Vitro Fert Embryo Transf. 1991 Aug;8(4):225–229. doi: 10.1007/BF01130810. [DOI] [PubMed] [Google Scholar]
  39. Summers P. M., Campbell J. M., Miller M. W. Normal in-vivo development of marmoset monkey embryos after trophectoderm biopsy. Hum Reprod. 1988 Apr;3(3):389–393. doi: 10.1093/oxfordjournals.humrep.a136713. [DOI] [PubMed] [Google Scholar]
  40. Takeuchi K., Sandow B. A., Morsy M., Kaufmann R. A., Beebe S. J., Hodgen G. D. Preclinical models for human pre-embryo biopsy and genetic diagnosis. I. Efficiency and normalcy of mouse pre-embryo development after different biopsy techniques. Fertil Steril. 1992 Feb;57(2):425–430. doi: 10.1016/s0015-0282(16)54858-4. [DOI] [PubMed] [Google Scholar]
  41. Verlinsky Y., Rechitsky S., Evsikov S., White M., Cieslak J., Lifchez A., Valle J., Moise J., Strom C. M. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn. 1992 Feb;12(2):103–110. doi: 10.1002/pd.1970120205. [DOI] [PubMed] [Google Scholar]

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