Sex Diagnosis and Sex Chromosomal Mosaicism in Normal Human Preimplantation Embryos

Journal of Mammalian Ova Research

Volumn 13, Issue 2, 1996, Pages 99-104

  Nakano, Yukiko ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

FISH; Human embryo; Mosaicism; Preimplantation diagnosis; Sex determination

Indexed keywords

EID: 85009550871     PISSN: 13417738     EISSN: 13475878     Source Type: Journal    
DOI: 10.1274/jmor.13.99     Document Type: Article

References (30)

1. Cooper, D.N. and Schmidthe, J. (1987): Diagnosis of genetic disease using recombinant DNA. Supplement. Hum. Genet., 77, 66-75.
2. Delhanty, J.D.A., Griffin, D.K., Handyside, A.H., Harper, J., Atkinson, G.H.G., Pieters, M.H.E.C. and Winston, R.M.L. (1993): Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescence in situ hybridisation (FISH). Hum. Mol. Genet., 2, 1183-1185.
3. Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston, R.M.L. (1990): Pregnancies from human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
4. Handyside, A.H., Lesko, J., Tarin, J.J., Winston, R.M.L. and Hughes, M.R. (1992): Birth of a normal girl following preimplantation diagnostic testing of cystic fibrosis. New Engl. J. Med., 327, 905-909.
5. Verlinsky, Y., Rechitsky, S., Evsikov, S., White, M., Cieslak, J., Lifchez, A., Valle, J., Moise, J. and Strom, C.M. (1992): Preconception, and preimplantation diagnosis for cystic fibrosis. Prenatal Diag., 12, 103-110.
6. Verlinsky, Y. and Kuliev, A. (1992): Micromanipulation of gametes and embryos in preimplantation genetic diagnosis and assisted fertilisation. Curr. Opin. Obstet. Gynaecol., 4, 720-725.
7. Abe, Y., Ikenaga, H., Nakano, H., Sasabe, Y., Katagiri, Y., Masaki, K., Yano, Y., Morita, M., Kubo, H. and Hirakawa, S. (1995): Effectiveness of the fixed simulation regimen of ART-programs. Jpn. J. Fertil. Steril., 40, 212-215.
8. Andre, C., Steirteghen, V., Joris, H., Liu, J., Nagy, P.Z., Bocken, G., Vonkelecom, A., Desmet, B. and Ranst, H.V. (1995): ICSI: Intracytoplasmic Sperm Injection. Center for Reproductive Medicine; Dutch-speaking Brussels Free University, Brussels, Bergium. 1995; Serono.
9. Bolton, V.N., Hawes, S.M., Taylor, C.T. and Parsons, J.H. (1989): Development of spare human preimplantation embryos in-vitro: an analysis of the correlations among gross morphology cleavage rate and development to the blastocyst. J. In Vitro Fert. Embryo Transfer 6, 30-35.
10. Yano, T. (1993): Sexing of in vitro fertilized preimplantation mouse embryos by the PCR method. Jpn. J. Human Genet., 38, 277-288.
11. Harper, J.C., Coonen, E., Ramaekers, F.C.S., Delhanty, J.D.A., Handyside, A.H., Winston, R.M.L. and Hopman, A.H.N. (1994): Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in situ hybridization using directly labelled probes. Hum. Reprod., 9, 721-724.
12. Harper, J.C., Robinson, F., Duffy, S., Griffin, D.K., Handyside, A.H., Delhanty, J.D.A. and Winston, R.M.L. (1994): Detection of fertilisation in embryos with accelerated cleavage by fluorescent in situ hybridization (FISH). Hum. Reprod., 9, 1733-1737.
13. Coonen, E., Dumoulin, J.C.M., Ramaekers, C.S. and Hopman, A.H.N. (1994): Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum. Reprod., 9, 533-537.
14. Waye, J.S. and Willard, H.F. (1985): Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the X chromosome. Nucl. Acids Res., 13, 2731-2743.
15. Willard, H.F. and Waye, J.S. (1987): Hierarchical order in chromosome specific human alpha satellite DNA. Trends in Genet., 3, 192-198.
16. Cooke, H.J., Schmidtke, J. and Gosden, J.R. (1982): Characterisation of a human Y chromosome repeated sequence and related sequences in higher primers. Chromosoma, 87, 491-502.
17. Munne, S., Grifo, J., Cohen, J. and Weier, H.U.G. (1993): Chromosome abnormalities in arrested human preimplantation embryos: A multiple probe fluorescence in-situ hybridization (FISH). Hum. Mol. Genet., 2, 1183-1185.
18. Munne, S., Dailey, T., Finkelstein, M. and Weier, H.U.G. (1996): Reduction in signal overlap results in increased FISH efficiency: Implications for preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 13, 149-156.
19. Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M.L., Hopman, A.H.N. and Delhanty, J.D.A. (1995): Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenatal Diagnosis, 15, 41-49.
20. Plachot, M. and Crozet, N. (1992): Fertilization abnormalities in human in-vitro fertilization. Hum. Reprod., 7, 89-94.
21. Nafisa, M.B.C. (1995): Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil. Steril., 64, 811-817.
22. Liebaers, I., Bonduelle, M., Van Assche, E., Devroey, P. and Van Steirteghem, A. (1995): Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet, 364, 1095.
23. Munne, S., Rosenwaks, Z., Tang, Y.X., Cohen, J. and Grifo, J. (1994): Sex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridisation. Fertil. Steril., 61, 111-117.
24. Hardy, K. (1993): Binucleate blastomeres in preimplantation human embryos in vitro: failure of cytokinesis during early cleavage. J. Reprod. Fertil., 98, 549-558.
25. Katagiri, Y. and Katayama, S. (1996): Influence of mosaicism on sexing of human pre-embryos detected by the polymerase chain reaction. J. Assist. Reprod. Genet., Accepted.
26. Takeuchi, K., Kaufmann, R.A., Sandow, B.A., Beebe, S.J., Morsy, M. and Hodgen, G.D. (1992): 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., 57, 425-430.
27. Muggeleton-Harris, A.L., Glaziel, A.M., Pickering, S. and Wall, M. (1995): Genetic diagnosis using polymerase chain reaction and fluorescent in-situ hybridisation analysis of biopsied cells from both the cleavage and blastocyst stages of individual cultured human preimplantation embryos. Hum. Reprod., 10, 183-192.
28. Munne, S., Lee, A., Rosenwaks, Z., Grifo, J. and Choen, J. (1993): Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod., 12, 2185-2191.
29. Houldsworth, J. and Chaganti, R.S.K. (1994): Comparative genomic hybridization: An overview. Am. J. Pathol., 145, 1253-1260.
30. Speicher, M.R., Manoir, S. du, Schrock, E., Holtgreve-Grez, H., Schoell, B., Lengauer, C., Cremer, T. and Ried, T. (1993): Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification. Hum. Mol. Genet., 11, 1907-1914.