Role of preimplantation genetic diagnosis (PGD) in current infertility practice

International Journal of Infertility and Fetal Medicine

Volumn 1, Issue 1, 2010, Pages 1-10

  Tempest, Helen Ghislaine ^a   Simpson, Joe Leigh ^a  

^a FLORIDA INTERNATIONAL UNIVERSITY   (United States)

Author keywords

Aneuploidy; Infertility; Preimplantation genetic diagnosis (PGD)

Indexed keywords

DNA;

ANEUPLOIDY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; DIAGNOSTIC ACCURACY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RISK; HUMAN; INFERTILITY; INFERTILITY THERAPY; INTERCHROMOSOMAL EFFECT; POLYPLOIDY; PREDICTION; PREGNANCY RATE; PREIMPLANTATION EMBRYO; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; RECIPROCAL CHROMOSOME TRANSLOCATION; RECURRENT DISEASE; REVIEW; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPONTANEOUS ABORTION; TRISOMY;

EID: 79952051522     PISSN: 22293817     EISSN: 22293833     Source Type: Journal    
DOI: 10.5005/jp-journals-10016-1001     Document Type: Review

References (96)

1. Simpson JL. Preimplantation genetic diagnosis at 20 years. Prenat Diagn 2010;30:682-95
2. Simpson JL. Early Pregnancy Loss. In: Kovacs G (Ed). The subfertility handbook: A Clinician's guide (2nd ed). London: Cambridge University Press, in press.
3. Egozcue J, Blanco J, Anton E, Egozcue S, Sarrate Z, Vidal F. Genetic analysis of sperm and implications of severe male infertility: A review. Placenta 2003;24:S62-S65.
4. Simpson JL, Meters CM, Martin AO, Elias S, Ober C. Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fertil Steril 1989;51:811-14
5. Simpson JL, Otano L. Prenatal genetic diagnosis. in: Gabbe SA, Niebyl JF, Simpson JL (Eds). Obstetrics: Normal and problem pregnancies (5th ed). New York: Churchill-Livingstone 2007;152-83
6. Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet 1989;33:14-53
7. Tempest HG. Meiotic recombination errors, the origin of sperm aneuploidy and clinical recommendations: A review. Syst Biol Reprod Med 2010;56:1-11
8. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14:379-90
9. Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: Preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998;102:117-23
10. Conn CM, Cozzi J, Harper JC, Winston RM, Delhanty JD. Preimplantation genetic diagnosis for couples at high-risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 1999;36:45-50
11. Gianaroli L, Magli MC, Ferraretti AP, Munné S, Balicchia B, Escudero T, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002;17:3201-07
12. Scriven PN, Flinter FA, Braude PR, Ogilvie CM. Robertsonian translocations:Reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001;16:2267-73.
13. Munné S, Escudero T, Fisher J, Chen S, Hill J, Stelling JR, et al. A negligible interchromosomal effect in embryos of Robertsonian translocation carriers. Reprod Biomed Online 2005;10:363-69
14. Goddijn M, Joosten JHK, Knegt AC, Vander, et al. Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod 2004;19:1013-17
15. Sugiura-Ogasawara M, Ozaki Y, Sata T, Suzumori N, Suzumori K. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocation. Fertil Steril 2004;81:367-73
16. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod 2006;21:1076-82
17. Fritz MA, Schattman G. Reply of the Committee: Parental translocations and need for preimplantation genetic diagnosis? Distorting effects of ascertainment bias and information need for rich families. Fertil Steril 2008;90:892-93
18. Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online 2006;13:879-94
19. Munné S, Morrison L, Fung J, Marquez C, Weier HUG, Bach M, et al. Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet 1998;15:290-96.
20. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocation. Fertil Steril 2000;73:1209-18
21. Munné S, Fung J, Cassel C, Marquez C, Weier HUG. Preimplantation genetic analysis of translocations case-specific probes for interphase cell analysis. Hum Genet 1998;102:663-74.
22. Verlinsky Y, Evsikov S. A simplified and efficient method for obtaining metaphase chromosomes from individual human blastomeres. Fertil Steril 1999;72:1127-33
23. Verlinsky Y, Cieslak J, Evsikov S, Galat V, Kuliev A. Nuclear transfer for full karyotyping and preimplantation diagnosis for translocations. Reprod BioMed Online 2002;5:300-05
24. Willadsen S, Levron J, Munné S, Schimmel T, Marchez C, Scott R, et al. Rapid visualization of metaphase chromosomes in single human blastomeres after fusion with invitro matured bovine eggs. Hum. Reprod 1999;14:470-74
25. Kuliev A, Janzen JC, Zlatopolsky Z, Kirillova I, Ilkevitch Y, Verlinsky Y. Conversion and nonconversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles. Reprod Biomed Online 2010;21:93-99
26. Shkumatov A, Kuznyetsov V, Cieslak J, Ilkevitch Verlinsky Y. Obtaining metaphase spreads from single blastomeres for PGD of chromosomal rearrangements. Reprod Biomed Online 2007;14:498-503
27. Traversa M, Leigh D. The application of a molecular strategy using STR for routine PGD in both reciprocal and Robertsonian translocation carriers. Ninth international conference on preimplantation genetics, Miami, Florida, April 23 to 25. Reprod Biomed Online 2009;18:S10.
28. Munné S, Alikani M. Tomkin G, Gripo J, Cohen J. Embryo morphology, development rates, and maternal are correlated with chromosome abnormalities. Fertil Steril 1995;64:382.
29. Pfeffer J, Pang MG, Hoegerman SF, Osgood CJ, Stacey MW, Mayer J, et al. Aneuploidy frequencies in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril 1999;72(3):472-78.
30. Rosebusch B. The incidence of aneuploidy in human oocytes assessed by conventional cytogenetic analysis. Hereditas 2004;141:97-105
31. Colls P, Goodall N, Zheng X, Munné S. Increased efficiency of preimplantation genetic diagnosis for aneuploidy by testing 12 chromosomes. Reprod Biomed Online Oct 2009;19:532-38
32. Munné S, Fragouli E, Colls P, Katz-Jaffe M, Shoolcraft W, Wells D. Improved detection of aneuploid blastocysts using a new 12 chromosomes FISH test. Reprod Biomed Online 2010;20:92-97
33. Warburton D, Kliner JH, Stein Z, Hutzler M, Chin A, Hassold T. Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions. Am J Hum Genet 1987;41:465-83
34. Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. Trisomy recurrence: A reconsideration based on North American data. Am J, Hum Genet 2004;75:376-85
35. Rubio C, Simon C, Vidal F, Rodrigo L, Pehlivan T, Remohi J, Pellicer A. Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod 2003;18:182-88
36. Gianaroli L, Magli MC, Ferraretti AP, Munné S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: Identification of the categories to which it should be proposed. Fertil Steril 1999;72:837-44
37. Munné S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999;14:2191-99
38. Verlinsky Y, Tur-Kaspa I, Cieslak J, Bernal A, Morris R, Taranissi M, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 2005;11:219-25
39. Verlinsky Y, Kuliev A. PGD and its role in ART. In: Brinsden P (Ed). Textbook of IVF and assisted reproduction (3rd ed), London (UK): Parthenon publishing group 2005.
40. Brigham SA, Conlon C, Farquharson RG. A longitudinal study of pregnancy outcome following idiopathic recurrent miscarriage. Hum Reprod 1999;14:2868-71
41. Society for assisted reproductive technology and the American society for reproductive medicine. Assisted reproductive technology in the United States: 2001 results generated from the American society for reproductive medicine/society for assisted reproductive technology registry. Fertil Steril 2007;87:1253-66
42. Verlinsky Y, Kuliev A. Practical preimplantation genetic diagnosis, London (UK); Springer-Verlag 2005.
43. Gianaroli L, Magli MC, Ferraretti AP, Tabanelli C, Trengia V, et al. The beneficial effects of PGD for aneuploidy support extensive clinical application. Reprod BioMed Online 2005;10:633-40
44. Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online 2003;7:91-97
45. Werlin L, Rodi I, DeCherney A, Marello E, Hill D, Munné S. Preimplantation genetic diagnosis as both a therapeutic and diagnostic tool in assisted reproductive technology. Fertil Steril 2003;80:467-68
46. Mersereau J, Pergament E, Zhang X, Milad MP. Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: A prospective randomized controlled trial. Fertil Steril 2008;90:1287-89
47. Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: A prospective randomized controlled trial. Hum Reprod 2004;19:2849-58
48. Staessen C, Verpoest W, Donoso P, Haentjens P, Van der Elst J, Liebaers I, et al. Preimplantation genetic diagnosis does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod 2008;23:2818-25
49. Mastenbroek S, Twisk M, van Echten-Arends J, Sikkena-Raddatz BM Korevaar JC, Verhoeve HR, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;357:9-17
50. Hardarson T, Hanson C, Lundin K, Hillensjo T, Nilsson L, Stevic J, et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: A randomized controlled trial. Hum Reprod 2008;23:2617-21
51. Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe MG, Wells D. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril Nov. 23, 2009 (Epub ahead of print).
52. Debrock S, Melotte C, Spiessens C, Peeraer K, Vanneste E, Meeuwis L, et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: A prospective randomized trial. Fertil Steril 2010;93:364-73
53. Cohen J, Grifo J. Multicenter trial of preimplantation genetic screening reported in the New England Journal of Medicine: An indepth look at the findings. Reprod Biomed Online 2007;15:305-66
54. Munné S, Cohen J, Simpson JL. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;25: 1769-70
55. Munné S, Gianaroli L, Tur-Kaspa I, Magli C, Sandalinas M, et al. Substandard application of preimplantation genetic screening may interfere with its clinical success. Fertil Steril 2007;88:781-84
56. Simpson JL. What next for preimplantation genetic screening? Randomized clinical trial in assessing PGS: Necessary but not sufficient. Hum Reprod 2008;23:2179-81
57. DeVos A, Staessen C, De Rycke M, Verpoest W, Haentjens, et al. Impact of cleavage stage embryo biopsy in view of PGD on human blastocyst implantation: A prospective cohort of single embryo transfers. Hum Reprod 2009;24:2988-96
58. Preimplantation genetic diagnosis international society (PGDIS). Guidelines for good practice in PGD: Program requirements and laboratory quality assurance. Reprod Biomed Online 2008;16:134-47
59. Geraedts J. Results from the polar body proof of principle study. 26th annual meeting of the European society of human reproduction and embryology, Rome, Italy, June 27 to 30 2010. Hum Reprod 2010;25:42.
60. Gutierrez-Mateo C, Sanchez Garcia J, Fischer J, Tormasi S, Cohen J, Munné S, et al. Preimplantation genetic diagnosis of single gene disorders: Experience with more than 200 cycles conducted by a reference laboratory in the United States. Feril Steril 2009;92:1544-56
61. Verlinsky Y, Kuliev A. Atlas of preimplantation genetic diagnosis (2nd ed). Boca Raton (FL): Taylor and Francis; 2005.
62. McArthur SJ, Leigh D, Marshall JT, De Boer KA, Jansen RPS. Pregnancies and live births following biopsy and PGD analysis of human embryos at the blastocyst stage. Fertil Steril 2005;84:1628-36
63. McArthur SJ, Leigh D, Marshall JT, Gee AJ, De Boer KA, Jansen RP. Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations. Prenat Diagn 2008;28:434-42
64. Gianaroli L, Magli MC, Lappi M, Capoti A, Robles F, Ferraretti AP. Preconception diagnosis. 9th international conference on preimplantation genetics, Miami, Florida, April 23 to25. Reprod Biomed Online 2009;18:S5.
65. Kuliev A, Cieslak J, Verlinsky Y. Frequency and distribution of chromosomal abnormalities in human oocytes. Cytogenet Genome Res 2005;111:193-98
66. Kuliev A, Verlinsky Y. Preimplantation genetic diagnosis: Technological advances to improve accuracy and range. Reprod Biomed Online 2007;16:532-38
67. Cieslak J, Tur-Kaspa I, Ilkevitch Y, Bernal A, Morris R, Verlinsky Y. Multiple micromanipulations for preimplantation genetic diagnosis do not affect embryo development to the blastocyst stage. Fertil Steril 2006;85:1826-29
68. Griffin DK, Handyside AH, Penketh RJ, Winston RM, Delhanty JD. Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes. Hum Reprod 1991;6:101-105
69. Grifo JA, Boyle A, Tang YX, Ward DC. Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. Arch Pathol Lab Med 1992;116:393-97
70. Grifo JA, Tang YX, Cohen J, Gilbert F, Sanyal M, Rosenwaks Z. Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes. JAMA 1992;268:727-29
71. Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993;8:2185-92
72. Munné S, Cohen J, Simpson J. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;25:1769-70.
73. Munné S, Fianaroli L, Tur-Kaspa I, Magli C, Sandalinas M, Gripo J, et al. Substandard application of preimplantation genetic screening may interfere with its clinical success. Fertil Steril 2007;88:781-84
74. Munné S, Fragouli E, Colls P, Katz-Jaffe M, Schoolcraft W, Wells D. Improved detection of aneuploid blastocysts using a new 12 chromosome FISH test. Reprod Biomed Online 2010;20:92-97
75. Jobanputra V, Sobrino A, Kinney A, Kline J, Warburton D. Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Hum Reprod 2002;17:1166-70
76. Gutierrez-Mateo C, Benet J, Wells D, Colls P, Bermudez MG, Sanchez-Garicia JF, et al. Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Hum Reprod 2004;19:2859-68
77. Gutierrez-Mateo C, Benet J, Wells D, Sanchez-Garcia JF, Bermudez MG, Belil I, et al. Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod 2004;19:2118-25.
78. Munné S, Bahce M, Sandalinas M, Escudero T, Marquez C, Velilla E, et al. Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reprod Biomed Online 2004;8:81-90
79. Fragouli E, Wells D, Thornhill A, Serhal P, Faed MJ, Harper JC, et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Human Reprod 2006;21:2319-28
80. Lathi RB, Westphal LM, Milki AA. Aneuploidy in the miscarriage of infertile women and the potential benefit of preimplantation genetic diagnosis. Fertil Steril 2007;89:353-357
81. Colls P, Escudero T, Cekleniak N, Sadowy S, Cohen J, Munné S. Increased efficiency of preimplantation genetic diagnosis for infertility using "no result rescue". Fertil Steril 2007;88:53-61.
82. Aurich-Costa J, Ng C, Selvaggio S, Colls P, Bradley S. Oligonucleotide (ODN) fluorescence in situ hybridization (Oligo-FISH) and conventional FISH allow enumeration of 24 chromosomes in 6 successive hybridizations performed in a single day. Fertil Steril 2009;92:S50.
83. Griffin DK, Ioannou D, Gabriel AS, Tempest H, Grigorova M. Taylor J, et al. Novel perspectives on 24 chromosomes diagnosis in human preimplantation embryos. Chromosome Res 2009;17:554.
84. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, et al. Karyomapping: A universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010;PMID 19858130.
85. Vanneste E, Voet T, Le Caignec C, Ampe M. Konings P, Melotte C, et al. Chromosome instability is common in human cleavagestage embryos. Nat Med 2009;15:577-83
86. Johnson DS, Genelos G, Baner J, Ryan A, Cinnioglu C, Banjevic, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24 hours protocol. Hum Reprod 2010;25:1066-75
87. Treff N, Tao X, Su J, Taylor D, Miller K, Scott R. Four hours 24 chromosomes aneuploidy screening using high throughput PCR SNP allele ratio analysis. Fertil Steril 2009;92:S49.
88. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000;106:210-17.
89. Wells D, Delhanty JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000;6:1055-62
90. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 2001;345:1537-41
91. Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment microarrays and CGH. Mol Hum Reprod 2008;14:703-10
92. Wells D, Fragouli E, Alfarawaty S, Munne S, Schoolcraft WB, Katz-Jaffe MG. Highly significant improvement in embryo implantation and increased live birth rate achieved after comprehensive chromosomal screening: Implications for single embryo transfer. Fertil Steril 2009;92:S79.
93. Wells D, Fragouli E, Alfarawaty S, Schoolcraft WB, Munne S, Katz-Jaffe MG. Increased embryo implantation and high birth rates following comprehensive chromosomal screening of in vitro fertilized embryos. Reprod Biomed Online 2009;18:S10.
94. Sher G, Keskintepe L, Keskintepe M, Maassarani G, Tortoriello D, Brody S. Genetic analysis of human embryos by metaphase comparative genomic hybridization (mCGH) improves efficiency of IVF by increasing embryo implantation rate and reducing multiple pregnancies and spontaneous miscarriages. Fertil Steril 2009;92:1886-94
95. Harper H, Coonen E, De Rycke M, Fiorentino F, Geraedts J, Goossens V, et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD consortium steering committee. Hum Reprod 2010;25:821-23
96. Simpson JL. Jauniaux ERM. Pregnancy Loss In: Gabbe SA, Niebyl JF, Simpson JL (Eds). Obstetrics: Normal and problem pregnancies (5th ed). New York: Churchill-Livingstone 2007;628-49