Preimplantation genetic diagnosis: Current status and new developments

Human Reproduction

Volumn 12, Issue 8, 1997, Pages 1756-1761

  Lissens, Willy ^a   Sermon, Karen ^a  

^a UNIVERSITY OF LOUVAIN MEDICAL SCHOOL   (Belgium)

Author keywords

FISH; Preimplantation genetic diagnosis; Single cell PCR

Indexed keywords

ALLELE; ANEUPLOIDY; CELL SEPARATION; EMBRYO; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; REVIEW; SPERM;

EID: 0030883079     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/12.8.1756     Document Type: Review

References (62)

1. Ashwood-Smith, M.J. (1994) Safety of human sperm selection by flow cytometry. Hum. Reprod., 9, 757.
2. Avner, R., Reubinoff, B.E., Simon, A. et al. (1996) Management of rhesus isoimmunization by preimplantation genetic diagnosis. Mol. Hum. Reprod., 2, 60-62.
3. G-γ-globin and parathyroid hormone loci by using the polymerse chain reaction and allele-specific oligomers. Proc. Natl. Acad. Sci. USA, 86, 9389-9393.
4. Delhanty, J.D.A. and Handyside, A.H. (1995) The origin of genetic defects in the human and their detection in the preimplantation embryo. Hum. Reprod. Update, 1, 201-215.
5. Dreesen, J.C.F.M., Geraedts, J.P.M., Dumoulin, J.C.M. et al. (1995) RS46 (DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome. Hum. Genet., 96, 323-329.
6. Dreesen, J.C.F.M., Dumoulin, J.C.M., Coonen, E. el al. (1996) A test system for preimplantation diagnosis of the fragile-X syndrome. Tijdschrift voor Fertiliteitsonderzoek (special issue ESHRE Maastricht), 10, 27-29.
7. Edwards, R.G. and Beard, H.K. (1995) Sexing human spermatozoa to control sex ratios at birth is now a reality. Hum. Reprod., 10. 977-978.
8. Edwards, R.G. and Gardner, R.L. (1967) Sexing of live rabbit blastocysts. Nature, 214, 576-577.
9. Findlay, I., Ray, P., Quirke, P. et al. (1995a) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Mol. Hum. Reprod., 1, see Hum. Reprod., 10. 1609-1618.
10. Findlay, I., Ray, P., Quirke, P. et al. (1995a) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Mol. Hum. Reprod., 1, see Hum. Reprod., 10. 1609-1618.
11. Findlay, L, Urquhart, A., Quirke, P. et al. (1995b) Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1005-1013.
12. Findlay, L, Urquhart, A., Quirke, P. et al. (1995b) Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1005-1013.
13. Findlay, I., Quirke, P., Hall, J. et al. (1996) Fluorescent PCR: a new technique for PGD of sex and single-gene defects. J. Assist. Reprod. Genet., 13,96-103.
14. Gibbons, W.E., Gitlin, S.A., Lanzendorf, S.E. et al. (1995) Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after preembryo biopsy and gene amplification by polymerase chain reaction. Feriil. Steril., 63, 723-728.
15. Gitlin, S.A., Lanzendorf, S.E. and Gibbons, W.E. (1996) Polymerase chain reaction amplification specificity: incidence of allele dropout using different DNA preparation methods for heterozygous single cells. j. Assist. Reprod. Genet., 13, 107-111.
16. Griffin, D.K., Handyside, A.H., Harper, J.C. et al. (1994) Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. j. Assist. Reprod. Genet., 11, 132-143.
17. Grifo, J.A., Tang, Y.X., Munné, S. et al. (1994) Healthy deliveries from biopsied human embryos. Hum. Reprod., 9, 912-916.
18. Handyside, A.H., Kontogianni, E.H., Hardy, K. et al. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
19. Handyside, A.H., Lesko, J.G., Tarin, J.J. et al. (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N. Engl. J. Med., 327, 905-909.
20. Hardy. K. and Handyside, A.H. (1992) Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Arch, Pathol Lab. Med., 116, 388-392.
21. Harper, J.C. (1996) Preimplantation diagnosis of inherited disease by embryo biopsy: an update of the world figures. J. Assist. Reprod. Genet., 13, 90-95.
22. Harper, J.C. and Handyside, A.H. (1994) The current status of preimplantation diagnosis. Curr. Obstet. Gynecol., 4, 143-149.
23. Harper, J.C., Coonen, E., Handyside, A.H. et al. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat. Diagn., 15, 41-49.
24. Harton, G.L., Tsipouras, P., Sisson, M.E. et al. (1996) Preimplantation genetic testing for Marfan syndrome. Mol. Hum.. Reprod., 2, 713-715.
25. Hattori, M., Yoshioka, K. and Sakaki, Y. (1992) Highly-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations. Electrophoresis. 13, 560-565.
26. Kontogianni, E.H., Griffin, D.K. and Handyside, A.H. (1996) Identifying the sex of human preimplantation embryos in X-linked disease: amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols. J. Assist. Reprod. Genet., 13, 125-132.
27. Levinson, G., Fields, R.A., Harton, G. L. et al. (1992) Reliable gender screening for human preimplantation embryos, using multiple DNA targetsequences. Hum. Reprod., 7, 1304-1313.
28. Levinson, G., Keyvanfar, K., Wu, J.C. et al. (1995) DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 979-982.
29. Levinson, G., Keyvanfar, K., Wu, J.C. et al. (1995) DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 979-982.
30. Lida, T., Suzumori, K., Ikuta, K. et al. (1996) Identification of a Gly862 to Ser substitution in the type I collagen gene from a single spermatozoon. Mol. Hum. Reprod., 2, 131-134.
31. Lissens, W., Sermon, K., Staessen, C. et al. (1996) Review: preimplantation diagnosis of inherited disease. J. Inker. Metab. Dis., 19, 709-723.
32. Liu, J., Lissens, W., Devroey, P. et al. (1993) Polymerase chain reaction analysis of the cystic fibrosisΔF508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier. Prenat. Diagn., 13, 873-880.
33. Liu, J., Lissens, W., Silber, S.J. et al. (1994) Birth after preimplantation diagnosis of the cystic fibrosis ΔF508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. J. Am. Med. Assoc., 272, 1858-1860.
34. Liu. J., Lissens, W., Van Broeckhoven, C. et al. (1995) Normal pregnancy after preimplantation diagnosis of a dystrophin gene deletion. Prenat. Diagn., 15, 351-358.
35. Morsy, M., Takeuchi, K., Kaufmann, R. et al. (1992) 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., 57, 431-438.
36. Munné, S. (1994) Flow cytometry separation of X and Y spermatozoa could be detrimental for human embryos. Hum. Reprod., 9, 758.
37. Munné, S., Lee, A., Rosenwaks, Z. et al. (1994) Chromosome mosaicism in human embryos. Biol. Reprod., 51, 373-379.
38. Munń, S., Dailey, T., Sultan, K.M. et al. (1995a) The use of first polar bodies for preimplantation diagnosis of aneuploidy. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1014-1020.
39. Munń, S., Dailey, T., Sultan, K.M. et al. (1995a) The use of first polar bodies for preimplantation diagnosis of aneuploidy. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1014-1020.
40. Munné, S., Sultan, K.M., Weier, H.-U. et al. (1995b) Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer. Am. J. Obstet. Gynecol., 172, 1191-1201.
41. Navidi, W. and Arnheim, N. (1991) Using PCR in preimplantation genetic diagnosis. Hum. Reprod., 6, 836-849.
42. Ray, P.P. and Handy side, A.H. (1996) Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation diagnosis. Mol. Hum. Reprod., 2, 213-218.
43. Ray, P., Winston, R.M.L. and Handyside, A.H. (1994) Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation. Miami Bio/Technology Short Reports: Proceedings of the 1994 Miami Bio/Technology European Symposium, Advances in Gene Technology: Molecular Biology and Human Genetic Disease, 5, 46.
44. Ray, P.P., Winston, R.M.L. and Handyside, A.H. (1996a) Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J. Assist. Reprod. Genet., 13, 104-106.
45. Ray, P.P., Kaeda, J.S., Bingham, J. et al. (1996b) Preimplantation diagnosis of β-thalassaemia major. Lancet, 347, 1696.
46. Rechitsky, S., Freidine, M., Verlinsky, Y. et al. (1996) Allele dopout in sequential PCR and FISH analysis of single cells (cell recycling). J. Assist. Reprod. Genet., 13, 115-124.
47. Saiki, R.K., Scharf, S., Faloona, F. et al. (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science, 230, 1350-1354.
48. Scobie, G., Woodroffe, B., Fishel, S. et al. (1996) Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system. Mol. Hum. Reprod., 2, 203-207.
49. Sermon, K., Lissens, W, Nagy, Z.P. et al. (1995a) Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 2214-2217.
50. Sermon, K., Lissens, W, Nagy, Z.P. et al. (1995a) Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 2214-2217.
51. Sermon, K., Lissens, W., Devroey, P. et al.(1995b) Amplification of exon 11 of the gene for the cc-chain of β-N-acetylhexosaminidase in single human blastomeres. Fertil Steril., 63, 407-409.
52. Sermon, K., Lissens, W., Joris, H. et al. (1996) Adaptation of the primer extension preampli fi cation (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol. Hum. Reprod., 2, 209-212.
53. Sermon, K., Lissens, W., Joris, H. et al. (1997) Clinical application of preimplantation diagnosis for myotonic dystrophy. Prenat. Diagn., in press.
54. Simpson, J.L. and Liebaers, I. (1996) Assessing congenital anomalies after preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 13, 170-176.
55. Strom, CM., Rechitsky, S., Wolf, G. et al. (1994) Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 11, 55-62.
56. Thornhill, A.R. and Monk, M. (1996) Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination. Mol. Hum. Reprod., 2, 285-289.
57. Thornhill, A., Holding, C. and Monk, M. (1994) Recycling the single cell to detect specific chromosomes and to investigate specific gene sequences. Hum. Reprod., 9, 2150-2155.
58. Verlinsky, Y. (1996) Preimplantation genetic diagnosis (Editorial). J. Assist. Reprod. Genet., 13, 87-89.
59. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1923-1927.
60. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1923-1927.
61. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1996) Polar body diagnosis of common aneuploidies by FISH. J. Assist. Reprod. Genet., 13, 157-162.
62. Wu, R., Cuppens, H., Buyse, I. et al. (1993) Co-amplification of the cystic fibrosis γF508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis. Prenat. Diagn., 13, 1111-1122.