Preimplantation genetic diagnosis principles and ethics

Human Reproduction

Volumn 13, Issue 8, 1998, Pages 2238-2245

  Fasouliotis, Sozos J ^a   Schenker, Joseph G ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Ethics; FISH; PCR; Preimplantation genetic diagnosis

Indexed keywords

ARTICLE; BIOPSY; BLASTOCYST; BLASTOMERE; EMBRYO; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC DISORDER; HEALTH CARE COST; HIGH RISK PATIENT; HUMAN; INDUCED ABORTION; MEDICAL ETHICS; POLYMERASE CHAIN REACTION; PREGNANCY RATE; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS;

EID: 0031670271     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/13.8.2238     Document Type: Article

References (76)

1. Angell, R.R., Xian, J and Keith, J. (1993) Chromosome anomalies in human oocytes in relation to age. Hum. Reprod., 8, 1047-1054.
2. Bolton, V.N., Wren, M.E. and Parsons, J.H. (1991) Pregnancies after in vitro fertilization and transfer of human blastocysts. Fertil. Steril., 55, 830-832.
3. Buster, I.E. and Carson, S.A. (1989) Genetic diagnosis of the preimplantation embryo. Am. J. Med. Genet., 34, 211-216.
4. Carson, S.A. and Buster, J.E. (1994) Biopsy of gametes and preimplantation embryos in genetic diagnosis. Semin. Reprod. Endocrinol., 12, 184-195.
5. Cui, X., Li, H., Garcia, T.M. et al. (1989) Single sperm typing: determination of genetic distance between the G-gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl. Acad. Sci. USA, 86, 9389-9393.
6. Cui, X., Warnes, G.M., Jeffrey, R. et al. (1994) Sex determination of preimplantation embryos by human testis-determining-gene amplification. Lancet, 343, 79-82.
7. Delhanty, J.D.A. (1994) Preimplantation diagnosis. Prenat. Diagn., 14, 1217-1227.
8. 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.
9. Dokras, A., Sargent, I.L., Ross, C. et al. (1990) Trophectoderm biopsy in human blastocysts. Hum. Reprod., 5, 821-825.
10. Dokras, A., Sargent, I.L., Gardner, R.L. et al. (1991) Human trophectoderm biopsy and secretion of chorionic gonadotrophin. Hum. Reprod., 6, 1453-1459.
11. Edwards, R.G., and Gardner, R.L. (1968) Choosing sex before birth. New Scientist., 38, 218-220.
12. Egozcue, J. (1996) Preimplantation diagnosis in older patients. To biopsy or not to biopsy? Of course not. Hum. Reprod., 11, 2077-2078.
13. Findlay, I., Ray, P., Quirke, P. et al. (1995) 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.
14. Findlay, I., Ray, P., Quirke, P. et al. (1995) 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.
15. Formigli, L., Roccio, C., Belotti, G. et al. (1990) Non-surgical flushing of the uterus for pre-embryo recovery: possible clinical applications. Hum. Reprod., 5, 329-335.
16. Gardner, R.L. and Edwards, R.G. (1968) Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature, 218, 346-348.
17. 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. Fertil. Steril., 63, 723-728.
18. Grifo, J.A., Tang, Y.X., Cohen, J. et al. (1992) Pregnancy after embryo biopsy and co-amplification of DNA from X and Y chromosomes. J. Am. Med. Assoc., 268, 727-729.
19. Grifo, J.A., Tang, Y.X., Munné, S. et al. (1994) Healthy deliveries from biopsied human embryos. Hum. Reprod., 9, 912-916.
20. 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.
21. Handyside, A.H., Lesko, J.G., Jarin, 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.
22. Hardy, K., Martin, K.L., Leese, H.J. et al. (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum. Reprod., 5, 708-714.
23. Harper, J.C. (1996) Preimplantation diagnosis of inherited diseases by embryo biopsy: an update of the world figures. J. Assist. Reprod. Genet., 11, 132-143.
24. Harper, J.C. and Handyside, A.H. (1994) The current status of preimplantation diagnosis. Curr. Obstet. Gynecol., 4, 143-149.
25. Harper, J.C., Coonen, E., Ramaekers, F.C.S. et al. (1994) Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labelled probes. Hum. Reprod., 9, 721-724.
26. 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.
27. Huisman, G.J., Alberda, A.T., Leerentveld, R.A. et al. (1994) A comparison of in vitro fertilization results after embryo transfer after 2, 3 and 4 days of embryo culture. Fertil. Steril., 61, 970-971.
28. John Paul II, Pope (1995) Abridged in the Tablet 1 April 1995, 8069, 438-442.
29. Kontogianni, E.H., Hardy, K. and Handyside, A.H. (1991) Co-amplification of X- and Y-specific sequences for sexing of preimplantation human embryos. In Verlinsky, Y and Strom, C. (eds) Preimplantation Genetics. Plenum, New York, pp. 139-145.
30. 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.
31. 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.
32. 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.
33. Lissens, W. and Sermon, K. (1997) Preimplantation genetic diagnosis: current status and new developments. Hum. Reprod., 12, 1756-1761.
34. Lissens, W., Sermon, K., Staessen, C. et al. (1996) Review: Preimplantation diagnosis of inherited disease. J. Inker. Metab. Dis., 19, 709-723.
35. Liu, P. and Rose, G.A. (1996) Sex selection: the right way forward. Hum. Reprod., 11, 2343-2345.
36. Liu, J., Lissens, W., Silber, S.J. et al. (1994) Birth after preimplantation diagnosis of the cystic fibrosis delta F 508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. J. Am. Med. Assoc., 272, 1858-1860.
37. 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.
38. Milunsky, A. and Fletcher, J.C. (1978) Prenatal diagnosis: clinical and ethical aspects. In Reich, W.T. (ed.) Encyclopedia of Bioethics. MacMillan and Free Press, New York, pp. 1332-1346.
39. Munné, S., Lee, A., Rosenwaks, Z. et al. (1993) Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod., 8, 2185-2191.
40. Munné, S., Lee, A., Rosenwaks, Z. et al. (1994) Chromosome mosaicism in human embryos. Biol. Reprod., 51, 373-379.
41. Munné, S., Sultan, K.M., Weier, H.U. et al. (1995a) Assessment of numeric abnormalities of X, Y, 18 and 16 chromosomes in preimplantation human embryos before transfer. Am. J. Obstet. Gynecol., 172, 1191-1201.
42. Munné, S., Alikani, M., Tomkin, G. et al. (1995b) Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil. Steril., 54, 382-391.
43. Navidi, W. and Arnheim, N. (1991) Using PCR in preimplantation genetic diagnosis. Hum. Reprod., 6, 836-849.
44. Nijs, M., Camus, H. and Van Steiteghem, A.C. (1988) Evaluation of different biopsy methods of blastomeres from 2-cell mouse embryos. Hum. Reprod., 3, 999-1003.
45. Pennings, G. (1996) Family balancing as a morally acceptable application of sex selection. Hum. Reprod., 11, 2339-2343.
46. Piette, C., Mouzon, J., Bachelot, A. et al. (1990) In vitro fertilization: influence of woman's age on pregnancy rate. Hum. Reprod., 5, 56-59.
47. Raeburn, J.A. (1995) Preimplantation diagnosis raises a philosophical dilemma. BMJ, 311, 540.
48. Ray, P.F., 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.
49. Ray, P.F., Winston, R.M.L. and Handyside, A.H. (1996) Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J. Assist. Reprod. Genet., 13, 104-106.
50. Rechitsky, S., Freidine, M., Verlinsky, E. et al. (1996) Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling). J. Assist. Reprod. Genet., 13, 115-124.
51. Reubinoff, B.E. and Shushan, A. (1996) Preimplantation diagnosis in older patients. To biopsy or not to biopsy? Hum. Reprod., 11, 2071-2075.
52. Robertson, J.A. (1992) Legal and ethical issues arising from the new genetics. J. Reprod. Med., 37, 521-524.
53. Schenker, J.G. (1990) Research on human embryos. Eur. J. Obstet. Gynecol. Reprod. Biol., 36, 267-273.
54. Schenker, J.G. (1991) Assisted reproduction: formation of laws and regulations. In Boutaleb, Y. and Gzouli, A. (eds). New Concepts in Reproduction. Parthenon, Lancaster, pp. 149-155.
55. Schenker, J.G. (1992) Religious views on assisted reproductive technologies. J. Assist. Reprod. Genet., 9, 3-9.
56. Schenker, J.G. (1993) Pre-embryo: therapeutic approaches. Ann. Med., 25, 265-270.
57. Schulman, J.D. and Edwards, R.G. (1996) Preimplantation diagnosis is disease control, not eugenics. Hum. Reprod., 11, 463-464.
58. Sermon, K., Lissens, W., Nagy, Z.P. et al. (1995) 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.
59. Sermon, K., Lissens, W., Nagy, Z.P. et al. (1995) 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.
60. Serour, G.L., Aboulghar, M.A. and Mansour, R.T. (1995) Bioethics in medically assisted conception in the Muslim world (news) J. Assist. Reprod. Genet., 12, 559-565.
61. Simpson, J.L. and Liebaers, I. (1996) Assessing congenital anomalies after preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 13, 170-176.
62. Strom, C.M., Verlinsky, Y., Milayeva, S. et al. (1990) Preconception genetic diagnosis of cystic fibrosis. Lancet, 336, 306-307.
63. Strom, C.M., Rechitsky, S. and Verlinsky, Y. (1991) Reliability of gender determination using the polymerase chain reaction (PCR) for single cells. J. IVF and ET, 8, 225-229.
64. Struewing, J.P., Abeliovich, d., Peretz T. et al. (1995) The carrier frequency of the BRCA 1 185 del AG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet., 11, 198-200.
65. Tarin, J.J. and Handyside A.H. (1993) Embryo biopsy strategies for preimplantation diagnosis. Fertil. Steril., 59, 943-952.
66. Tarin, J.J., Conaghan, J., Winston, R.M.L. et al. (1992) Human embryo biopsy on the 2nd day after insemination for preimplantation diagnosis: removal of a quarter of embryo retards cleavage. Fertil. Steril., 58, 970-976.
67. 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.
68. 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.
69. Verlinsky, Y. and Kuliev, A. (1994) Human preimplantation diagnosis: needs, efficiency, and efficacy of genetic and chromosomal analysis. Baillière's Clin. Obstet, Gynaecol., 12, 177-196.
70. Verlinsky,Y. and Kuliev, A. (1996) Preimplantation diagnosis of common 11, 2076-2077.
71. Verlinsky, Y., Ginsberg, N., Lifchez, A. et al. (1990) Analysis of the first polar body: preconception genetic diagnosis. Hum. Reprod., 5, 826-829.
72. Verlinsky, Y., Rechitsky, S., Eviskov, et al. (1992) Preconception and preimplantation diagnosis for cystic fibrosis. Prenat. Diagn., 12, 103-110.
73. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploides by fluorescent in-situ hybridization. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1923-1927.
74. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1995) Pregnancies following pre-conception diagnosis of common aneuploides by fluorescent in-situ hybridization. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1923-1927.
75. Verlinsky, Y. and Kuliev, A. (1996) Preimplantation diagnosis of common aneuploides in infertile couples of advanced maternal age. Hum. Reprod., 11, 2076-2077.
76. Viville, S. and Nisand, I. (1997) Legal aspects of human embryo research and preimplantation genetic diagnosis in France. Hum. Reprod., 12, 2341-2343.