Preimplantation genetic diagnosis and human implantation - A review

Placenta

Volumn 24, Issue SUPPL. B, 2003, Pages

  Munné, Santi ^a  

^a Inst Repro Med/Sci St Barnabas   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; AZOOSPERMIA; CHILDBIRTH; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME NUMBER; COMPARATIVE GENOMIC HYBRIDIZATION; CRYOPRESERVATION; FERTILIZATION IN VITRO; GENETIC ANALYSIS; HUMAN; MATERNAL AGE; NIDATION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; RECURRENT ABORTION; RETROSPECTIVE STUDY; REVIEW; SPONTANEOUS ABORTION; TRISOMY;

EID: 0142243201     PISSN: 01434004     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0143-4004(03)00177-2     Document Type: Article

References (77)

1. Bahçe M, Escudero T, Sandalinas M, Morrison L, Legator M & Munné S (2000) Improvements of preimplantation diagnosis of ancuploidy by using microwave-hybridization, cell recycling and monocolor labeling of probes. Molec Human Reprod, 9, 849-854.
2. Barritt JA, Cohen J & Brenner CA (2000) Mitochondrial point mutation in human oocytes is associated with maternal age. Reprod BioMed Online, 1, 96-100.
3. Bonduelle M, liebaers I, Deketelaere V, Derde MP, Camus M, Devroey P & Van Steirteghem A (2002) Neonatal data on a cohort of 2889 infants born after ICSI (1991-1999) and of 2995 infants born after IVF (1983-1999). Human Reprod, 17, 671-694.
4. Brenner CA, Barritt JA, Willadsen S & Cohen J (2000) Mitochondrial DNA heteroplasmy after human ooplasmic transplantation. Fertil Steril, 74, 573-578.
5. Dailey T, Dale B, Cohen J & Munné S (1996) Association between non-disjunction and maternal age in meiosis-II human oocytes detected by FISH analysis. Am J Hum Genet, 59, 176-184.
6. ESHRE PGD Consortium Steering Committee (2002) ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III (May 2001). Human Reprod, 17, 233-246.
7. Findlay I, Toth T, Mathews P, Marton T, Quirke P & Papp Z (1998) Rapid triosmy diagnosis using fluorescence PCR and short tandem repeats: application for prenatal diagnosis and preimplantation genetic diagnosis. J Assist Reprod Genet, 15, 265-274.
8. Gekas J, Thepot F, Turleau C, Siffori JP, Dadoune JP, Wasels R, Benzacken B & Association de cytogeneticiens de langue francaise (2001) Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod, 16, 82-90.
9. Gianaroli L, Magli MC, Ferraretti AP, Fiorentino A, Garrisi J & Munné S (1997) Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil Steril, 68, 1128-1131.
10. Gianaroli L, Magli C, Ferraretti AP & Munné S (1999) Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril, 72, 837-844.
11. Gianaroli L, Magli MC, Ferraretti AP, et al. (2000) Preimplantation diagnosis after assisted reproduction techniques for genetically determined male infertility. J Endocrinol Invest, 23, 711-716.
12. Gianaroli L, Magli MC & Ferraretti AP (2001a) The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy (2001). Molec Cell Endocrinol, 183, S13-S18.
13. Gianaroli L, Magli MC, Ferraretti AP, Tabanelli C, Trombetta C & Boudjema E (2001b) The role of preimplantation diagnosis for aneuploidy. Reprod Biomed Online, 4, 31-36.
14. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA & Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortuses. Ann Hum Genet Lond, 44, 151-178.
15. International Working Group on Preimplantation Genetics (2001) Preimplantation Genetic Diagnosis: experience of 3000 clinical cycles. Reprod Biomed Online, 3, 49-53.
16. Jacobs PA & Hassold TJ (1987) Chromosome abnormalities: origin and etiology in abortions and live births. In Human Genetics (Eds) Vogal F & Sperling K, pp. 233-244. Berlin: Springer-Verlag.
17. Jobanputra V, Sobrino A, Kinney A, Kline J & Warburton D (2002) Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Human Reprod, 17, 1166-1170.
18. Kahraman S, Bahce M, Samli H, Imirzahoglu N, Yakisn K, Cengiz G & Donmez E (2000) Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation failure. Human Reprod, 15, 2003-2007.
19. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F & Pinkel D (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 258, 818-821.
20. Manor D, Kol S, Lewit N, Lightman A, Stein D, Pillar M & Itskovitz-Eldor J (1996) Undocumented embryos: do not trash them, FISH them. Human Reprod, 11, 2502-2506.
21. Mansfield ES (1993) Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandm repeat polymorphisms. Hum Mol Genet, 2, 43-50.
22. Márquez C, Cohen J & Munné S (1998) Chromosome identification on human oocytes and polar bodies by spectral karyotyping. Cytogenet Cell Genet, 81, 254-258.
23. Márquez C, Sandalinas M, Bahçe M, Alikani M & Munné S (2000) Chromosome abnormalities in 1255 cleavage-stage human embryos. Reprod Biomed Online, 1, 17-27.
24. McFadyen IR (1989) Early fetal loss. In Fetal Medicine (Ed.) Rodeck C, pp. 26-43. Oxford, UK: Blackwell Scientific Publishers.
25. Munné S, Lee A, Rosenwaks Z, Grifo J & Cohen J (1993) Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Human Reprod, 8, 2185-2191.
26. Munné S, Alikani M, Tomkin G, Grifo J & Cohen J (1995a) Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertil Steril, 64, 382-391.
27. Munné S, Dailey T, Sultan KM, Grifo J & Cohen J (1995b) The use of first polar bodies for preimpantation diagnosis of aneuploidy. Human Reprod, 10, 1015-1021.
28. Munné S & Weier U (1996) Simultaneous enumeration of chromosomes 13, 18, 21, X and Y in interphase cells for preimplantation genetic diagnosis of aneuploidy. Cytogenet Cell Genet, 75, 263-270.
29. Munné S, Márquez C, Reing A, Garrisi J & Alikani M (1998a) Chromosome abnormalities in embryos obtained following conventional IVF and ICSI. Fertil Steril, 69, 904-908.
30. Munné S, Márquez C, Magli C, Morton P & Morrison L (1998b) Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Molec Human Reprod, 4, 863-870.
31. Munné S, Magli C, Bahçe M, Fung J, Legator M, Morrison L, Cohen J & Gianaroli L (1998c) Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn, 18, 1459-1466.
32. Munné S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, Tucker M, Márquez C, Sable D, Ferraretti AP, Massey JB & Scott R (1999) Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Human Reprod, 14, 2191-2199.
33. Munné S, Sandalinas M & Cohen J (2001) Chromosome abnormalities in human embryos. In Textbook of Assisted Reproductive Techniques. Laboratory and Clinical Perspectives (Eds) Gardner DK, Weissman A, Howles CM & Shoham Z, pp. 297-318. London: Martin Dunitz Ltd.
34. Munné S, Sandalinas M, Escudero T, Marquez C & Cohen J (2002) Chromosome mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online, 4, 223-232.
35. Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J & Sable D (2003) Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online, in press.
36. Munné S (2003) Preimplantation genetic diagnosis of aneuploidy. Hum Reprod Updates, in press.
37. Navot D, Drews MR, Bergh PA, Guzman I, Karstaedt A, Scott RT, Garrisi GJ & Hofmann GE (1994) Age related decline in female fertility is not due to diminished capacity of the uterus to sustain embryo implantation. Fertil Steril, 61, 97-101.
38. Obasaju M, Kadam A, Biancardi T, Sultan K, Fateh M & Munné S (2001) Pregnancy rate from the transfer of a single normal embryo in women over 40 years of age undergoing PGD for chromosomal abnormalities. Reprod Biomed Online, 2, 98-101.
39. Ogasawara M, Aoki K, Okada S & Suzumori K (2000) Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril, 73, 300-304.
40. Pehlivan T, Rubio C, Rodrigo L, Romero J, Remohi J, Simon C & Pellicer A (2002) Impact of preimplantation genetic diagnosis on IVF outcome in implantation failure patients. Reprod Biomed Online, 6, 232-237.
41. Pellicer A, Rubio C, Vidal F, Minguez Y, Gimenez C, Egozcue J, Remohi J & Simon C (1999) In vitro fertilization plus preimplantation genetic diagnosis in patients with recurrent miscarriage: an analysis of chromosome abnormalities in human preimplantation embryos. Fertil Steril, 71, 1033-1039.
42. Quenby S, Vince G, Farquharson R & Aplin J (2002) Recurrent miscarriage: a defect in nature's quality control?. Human Reprod, 17, 1959-1963.
43. Raziel A, Friedler S, Schachter M, Kasterstein E, Strassburger D & Ron-El R (2002) Increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after in vitro fertilization. Fertil Steril, 78, 515-519.
44. Robinson WP, Bernasconi-quadroni F, Lau A & McFadden DE (1999) Origin of trisomy: effect of ascertainment. Am J Med Genet, 84, 34-42.
45. Robinson WP, McFadden DE & Stephenson MD (2001) The origin of abnormalities in recurrent aneuploidy/polyploidy. Am J Hum Genet, 69, 1245-1254.
46. Rubio C, simon C, Vidal F, Rodrigo L, Pehlivan T, Remohi J & Pellicer A (2003) Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Human Reprod, 18, 182-188.
47. Sherlock J, Cirigliano V, Petrou M, Tutschek B & Adinolfi M (1998) Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet, 62, 9-23.
48. Silber S, Escudero T, Lenahan K, Sadowy S, Abdelhadi I, Kilani Z & Munné S (2003) Chromosomal abnormalities in embryos derived from TESE. Fertil Steril, 30-38
49. Simon C, Rubio C, Vidal F, Moreno C, Parrilla JJ & Pellicer A (1998) Increased chromosome abnormalities in human preimplantation embryos after in-vitro fertilization in patients with recurrent miscarriages. Reprod Fertil Devel, 10, 987-992.
50. Simpson JL (1990) Incidence and timing of pregnancy losses: Relevance to evaluating safety of early prenatal diagnosis. Am J Med Genet, 35, 165-173.
51. Stephenson MD (1996) Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril, 66, 24-29.
52. Stephenson MD, Awartani KA & Robinson WP (2002) Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Human Reprod, 17, 446-451.
53. Stern JJ, Dorfman AD & Gutierrez-Najar MD (1996) Frequency of abnormal karyotype among abortuses from women with and without a history of recurrent spontaneous abortions. Fertil Steril, 65, 250-253.
54. Strom C, Strom S, Levine E, Ginsberg N, Barton J & Verlinsky Y (2000) Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis. Am J Obstet Gynecol, 182, 1629-1632.
55. Verlinsky Y, Cieslak J, Frieidine M, Ivakhnenko V, Wolf G, Kovalinskaya L, White M, Lifchez A, Kaplan B, Moise J, Valle J, Ginsberg N, Strom C & Kuliev A (1995) Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescence in-situ hybridization. Human Reprod, 10, 1923-1927.
56. Verlinsky Y & Kuliev A (1996) Preimplantation diagnosis of common aneuploidies in fertile couples of advanced maternal age. Hum Reprod, 11, 2076-2077.
57. Verlinsky Y, Cieslak J, Ivakhnenko V, Lifchez A, Strom C, Kuliev A & Preimplantation genetic group (1996) Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Fertil Steril, 66, 126-129.
58. Verlinsky Y, Cieslkak J, Ivanhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, moise J, Valle J, Ginsberg N, Strom C & Kuliev A (1998a) Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis. J Assist Reprod Genet, 15, 285-289.
59. Verlinsky Y, Cieslkak J, Ivanhnenko V, et al. (1998b) Preconception genetic testing for common age-related aneuploidies by polar body analysis. Genet Testing, 1, 231-235.
60. Verlinsky Y, Cieslkak J, Ivanhnenko V, et al. (1999) Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet, 16, 165-169.
61. Verlinsky Y & Evsikov S (1999) Karyotyping of human oocytes by chromosomal analysis of the second polar body. Molec Human Reprod, 5, 89-95.
62. Verlinsky Y & Kuliev A (2001) Polar body biopsy. In Textbook of Assisted Reproductive Techniques (Eds) Gardner DK, Weissman A, Howles CM & Shoam Z, pp. 333-340. London: Martin Dunitz.
63. Verlinsky Y, Cieslak V, Ivakhnenko S, Evsikov G, wolf M, White M, Lifchez A, Kaplan B, Moise J, Valle J, Ginsberg N, Strom C & Kuliev A (2001) Chromosomal abnormalities in the first and second polar body (2001). Molec Cell Endocrinol, 183, S47-S49.
64. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP & Kuliev A (2003) Celebrating the first thousand babies born after preimplantation genetic diagnosis (PGD). Fertil Steril, in press.
65. Vidal F, Gimenez C, Rubio C, Simon C, Pellicer Z, Santalo J & Egozcue J (1998) FISH preimplantation diagnosis of chromosome aneuploidy in recurrent pregnancy wastage. J Assisted Reprod Genet, 15, 310-313.
66. Voullaire L, Wilton L, Slater H & Williamson R (1999) Detection of aneuploidy in single cells using comparative genome hybridization. Prenat Diagn, 19, 846-851.
67. Voullaire L, Slater H, Williamson R & Wilton L (2000) Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet, 106, 210-217.
68. Warburton D & Frazer FC (1964) Spontaneous abortion risk in man: Data from reproductive histories collected in a medical genetics unit. Am J Hum Genet, 16, 1-25.
69. Warburton D, Stein Z, Kline J & Susser M (1980) Chromosome abnormalities in spontaneous abortion: data from the New York city study. In Human Embryonic and Fetal Death (Eds) Porter LH & Hook EB, pp. 261-287. New York: Academic Press.
70. Warburton D, Kline J, Stein Z & Strobino B (1986) Cytogenetic abnormalities in spontaneous abortions of recognized conceptions. In Perinatal Genetics: Diagnosis and Treatment (Eds) Porter IH & Willey A, pp. 133-148. New York: Academic Press.
71. Weier HUG, Munné S, Lersch RA, Hsieh HB, Smida J, Chen XN, Korenberg JR, Pedersen RA & Fung J (2001) Towards a full karyotype screening of interphase cells: 'FISH and chip' technology. Molec Cell Endocrinol, 183, S41-S45.
72. Wells D, Sherlock JK, Handyside AH & Delhanty DA (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genome hybridization. Nucleic Acid Res, 27, 1214-1218.
73. Wells D & Delhanty JDA (2000) Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Human Reprod, 6, 1055-1062.
74. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JDA & Munné S (2002) First clinical application of comparative genome hybridization (CGH) and polar body testing for Preimplantation genetic diagnosis (PGD) of aneuploidy. Fertil Steril, 78, 543-549.
75. Werlin L, Rodi I, DeCherney A, Marello E, Hill D & Munné S (2003) Preimplantation genetic diagnosis (PGD) as both a therapeutic and diagnostic tool in assited reproductive technology. Fertil Steril, in press
76. Willadsen S, Levron J, Munné S, Schimmel T, Márquez C, Scott R & Cohen J (1999) Rapid visualization of metaphase chromosomes in single human blastomeres after fusion with in vitro matured bovine eggs. Human Reprod, 2, 470-475.
77. Wilton L, Williamson R, McBain J, Edgar D & Voullaire L (2001) Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med, 345, 1537-1541.