Preimplantation Diagnosis

Preimplantation diagnosis is testing for a causative gene before pregnancy, allowing the preselection of unaffected embryos before implantation into the uterus. It has currently become an alternative to prenatal diagnosis, providing an option for at-risk couples to have unaffected children of their own without facing the risk of a pregnancy termination after prenatal diagnosis. It is presently also the practical means in assisted reproduction technology (ART) to improve the in vitro fertilization (IVF) effectiveness. Most recently this technology was applied for preimplantation HLA typing to improve the access to the HLA identical stem cell transplantation, and will in future contribute to the development of the cellular therapy for genetic and acquired disorders.

Keywords: PGD; embryo biopsy; polar body removal; single-cell PCR analysis; fluorescent in situ hybridization; mendelian disorders; chromosomal aneuploidies and translocations; preimplantation HLA typing

 References
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    other ESHRE Preimplantation Genetic Diagnosis Consortium (ESHRE PGD Consortium) (2002) Data Collection III, May 2002. Human Reproduction 17: 233–246.
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    Handyside AH, Kontogiani EH, Hardy K and Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768–770.
    other International Working Group on Preimplantation Genetics (2001) Preimplantation genetic diagnosis: experience of three thousand clinical cycles report of the 11th Annual Meeting of International Working Group on Preimplantation Genetics, in conjunction with 10th International Congress of Human Genetics, Vienna, 10 May 2001. Reproductive BioMedicine Online 3:49–53.
    Kuliev A and Verlinsky Y (2006) The future of preimplantation diagnosis. Expert Review of Obstetrics and Gynecology 1: 95–102.
    Rechitsky S, Kuliev A, Sharapova T et al. (2006) Preimplantation HLA typing with Aneuploidy Testing. Reproductive BioMedicine Online 12: 81–92.
    Rechitsky S, Kuliev A, Tur-Kaspa I, Morris R and Verlinsky Y (2004) Preimplantation genetic diagnosis with HLA matching. Reproductive BioMedicine Online 9: 210–221.
    Rechitsky S, Verlinsky O, Chistokhina A et al. (2002) Preimplantation genetic diagnosis for cancer predisposition. Reproductive BioMedicine Online 4: 148–155.
    Verlinsky Y, Cohen J, Munne S et al. (2004) Over a decade of preimplantation genetic diagnosis experience – a multicenter report. Fertility Sterility 82: 292–294.
    Verlinsky Y, Ginsberg N, Lifchez A et al. (1990) Analysis of the first polar body: preconception genetic diagnosis. Human Reproduction 5: 826–829.
    book Verlinsky Y and Kuliev AM (2006) Practical Preimplantation Genetic Diagnosis, vol. XII, 204 pp. Berlin: Springer
    Verlinsky Y, Rechitsky S, Verlinsky O et al. (2001) Preimplantation diagnosis for Fanconi anemia combined with HLA matching. Journal of the American Medical Association 285: 3130–3133.
    Verlinsky Y, Tur-Kaspa I, Cieslak J et al. (2005) Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis IVF patients. Reproductive BioMedicine Online 11: 219–225.
 Further Reading
    Edwards RG (2004) Ethics of PGD: thoughts on the consequences of typing HLA in embryos. Reproductive BioMedicine Online 9: 222–224.
    Kahraman S, Karlilaya G, Sertyel S et al. (2004) Clinical aspects of preimplantation genetic diagnosis of single gene disorders combined with HLA typing. Reproductive BioMedicine Online 9: 529–532.
    Kuliev A, Cieslak J, Illkewitch Y and Verlinsky Y (2003) Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis of age-related aneuploidies. Reproductive BioMedicine Online 6: 54–59.
    Kuliev A, Rechitsky S, Laziuk K et al. (2006) Pre-embryonic diagnosis for Sandhoff disease. Reproductive BioMedicine Online 12: 328–333.
    Kuliev A, Rechitsky S, Tur-Kaspa I and Verlinsky Y (2005) Preimplantation genetics: improving access to stem cell therapy. Annals of the New York Academy of Sciences 1054: 223–227.
    Kuliev A, Rechitsky S, Verlinsky O et al. (2005) Preimplantation diagnosis and HLA typing for hemoglobin disorders. Reproductive BioMedicine Online 11: 362–370.
    Munne S (2002) Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reproductive BioMedicine Online 4: 183–196.
    Munne S, Bahce M and Sandalinas M (2004) Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reproductive BioMedicine Online 8: 81–90.
    Munné S, Sandalinas M, Escudero T et al. (2003) Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reproductive BioMedicine Online 7: 91–97.
    Van deVelde H, Georgiou I, De Rycke M et al. (2004) Novel universal approach for preimplantation genetic diagnosis of -thalassemia in combination with HLA matching of embryos. Human Reproduction 19: 700–708.
    book Verlinsky Y, Cieslak J and Kuliev A (2002) "Preimplantation FISH diagnosis of aneuploidies". Fan Y (ed.) Molecular Cytogenetics: Protocols and Applications, pp. 259–273. Totowa, NJ: Humana Press
    book Verlinsky Y and Kuliev A (2005) Atlas of Preimplantation Genetic Diagnosis, vol. XII, p. 288 London and New York: Taylor & Francis.
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Anver, Kuliev, Rechitsky, Svetlana, and Yury, Verlinsky(Apr 2007) Preimplantation Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005570.pub2]