Diploid-aneuploid mosaicism in human embryos cultured to the blastocyst stage

Fertility and Sterility

Volumn 84, Issue 2, 2005, Pages 336-342

  Bielanska, Magdalena ^a   Jin, Shaoguang ^a   Bernier, Martin ^a   Seang, Lin Tan ^a   Ao, Asangla ^a  

^a ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

Aneuploidy; Blastocysts; Chromosomes; Confined placental mosaicism; Fluorescence in situ hybridization; Mosaicism

Indexed keywords

ANEUPLOIDY; ARTICLE; BLASTOCYST; CHROMOSOME; CHROMOSOME 18; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME ANALYSIS; DIPLOIDY; DNA PROBE; EMBRYO; EMBRYO CULTURE; FERTILIZATION IN VITRO; FLUORESCENCE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; MOSAICISM; OUTCOMES RESEARCH; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; UNIVERSITY HOSPITAL;

ADULT; ANEUPLOIDY; BLASTOCYST; CULTURE TECHNIQUES; DIPLOIDY; EMBRYO; EMBRYO IMPLANTATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM;

EID: 23744484589     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.03.031     Document Type: Article

References (49)

1. T. Hassold Mosaic trisomies in human spontaneous abortions Hum Genet 61 1982 31 35
2. P. Benn, L.Y. Hsu, T. Perlis, A. Schonhaut Prenatal diagnosis of chromosome mosaicism Prenat Diagn 4 1984 1 9
3. L.Y. Hsu, M.T. Yu, K.E. Richkind, D.L. Van Dyke, B.F. Crandall, D.F. Saxe Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis a collaborative study Prenat Diagn 16 1996 1 28
4. D.H. Ledbetter, J.M. Zachary, J.L. Simpson, M.S. Golbus, E. Pergament, L. Jackson Cytogenetic results from the U.S. Collaborative Study on CVS Prenat Diagn 12 1992 317 345
5. B.B. Wang, C.H. Rubin, J. Williams III Mosaicism in chorionic villus sampling an analysis of incidence and chromosomes involved in 2612 consecutive cases Prenat Diagn 13 1993 179 190
6. D.K. Kalousek, F.J. Dill Chromosomal mosaicism confined to the placenta in human conceptions Science 221 1983 665 667
7. J. Wolstenholme Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22 their incidence, likely origins, and mechanisms for cell lineage compartmentalization Prenat Diagn 16 1996 511 524
8. W.P. Robinson, I.J. Barrett, L. Bernard, A. Telenius, F. Bernasconi, R.D. Wilson Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction Am J Hum Genet 60 1997 917 927
9. L.Y. Hsu, M.T. Yu, R.L. Neu, D.L. Van Dyke, P.A. Benn, C.L. Bradshaw Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21 karyotype/phenotype correlations Prenat Diagn 17 1997 201 242
10. D.K. Kalousek Pathogenesis of chromosomal mosaicism and its effect on early human development Am J Med Genet 91 2000 39 45
11. R. Wallerstein, M.T. Yu, R.L. Neu, P. Benn, B.C. Lee, B. Crandall Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21 karyotype-phenotype correlations Prenat Diagn 20 2000 103 122
12. D.K. Kalousek, P.N. Howard-Peebles, S.B. Olson, I.J. Barrett, A. Dorfmann, S.H. Black Confirmation of CVS mosaicism in term placentae and high frequency of IUGR association with confined placental mosaicism Prenat Diagn 11 1991 743 750
13. J. Wolstenholme, D.E. Rooney, E.V. Davison Confined placental mosaicism, IUGR, and adverse pregnancy outcome a controlled retrospective U.K. collaborative survey Prenat Diagn 14 1994 345 361
14. D. Kotzot Abnormal phenotypes in uniparental disomy (UPD) fundamental aspects and a critical review with bibliography of UPD other than 15 Am J Med Genet 82 1999 265 274
15. A.H. Handyside Moisaicism in the human preimplantation embryo Reprod Nutr Dev 36 1996 643 649
16. J.D. Delhanty, J.C. Harper, A. Ao, A.H. Handyside, R.M. Winston Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients Hum Genet 99 1997 755 760
17. S. Munne, J. Cohen Chromosome abnormalities in human embryos Hum Reprod Update 4 1998 842 855
18. M. Bielanska, S.L. Tan, A. Ao Chromosomal mosaicism throughout human preimplantation development in vitro incidence, type, and relevance to embryo outcome Hum Reprod 17 2002 413 419
19. M. Bielanska, S.L. Tan, A. Ao Different probe combinations for assessment of postzygotic chromosomal imbalances in human embryos J Assist Reprod Genet 19 2002 177 182
20. P. Ruangvutilert, J.D. Delhanty, P. Serhal, M. Simopoulou, C.H. Rodeck, J.C. Harper FISH analysis on day 5 post-insemination of human arrested and blastocyst stage embryos Prenat Diagn 20 2000 552 560
21. M. Sandalinas, S. Sadowy, M. Alikani, G. Calderon, J. Cohen, S. Munne Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage Hum Reprod 16 2001 1954 1958
22. T. Hardarson, G. Caisander, A. Sjogren, C. Hanson, L. Hamberger, K. Lundin A morphological and chromosomal study of blastocysts developing from morphologically suboptimal human pre-embryos compared with control blastocysts Hum Reprod 18 2003 399 407
23. D.K. Gardner, W.B. Schoolcraft In-vitro culture of human blastocysts R. Jansen D. Moritimer Towards reproductive certainty infertility and genetics beyond 1999 1999 Parthenon Press Carnforth 378 388
24. E. Coonen, J.C. Dumoulin, F.C. Ramaekers, A.H. Hopman Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization Hum Reprod 9 1994 533 537
25. M. Bielanska, S.L. Tan, A. Ao High rate of mixoploidy among human blastocysts cultured in vitro Fertil Steril 78 2002 1248 1253
26. R.H. Harrison, H.C. Kuo, P.N. Scriven, A.H. Handyside, C.M. Ogilvie Lack of cell cycle checkpoints in human cleavage stage embryos revealed by a clonal pattern of chromosomal mosaicism analysed by sequential multicolour FISH Zygote 8 2000 217 224
27. W.P. Robinson, F. Binkert, F. Bernasconi, I. Lorda-Sanchez, E.A. Werder, A.A. Schinzel Molecular studies of chromosomal mosaicism relative frequency of chromosome gain or loss and possible role of cell selection Am J Hum Genet 56 1995 444 451
28. F.J. Los, D. Van Opstal, B.C. van den Berg, A.P. Braat, S. Verhoef, E. Wesby-van Swaay Uniparental disomy with and without confined placental mosaicism a model for trisomic zygote rescue Prenat Diagn 18 1998 659 668
29. E. Coonen, J.G. Derhaag, J.C. Dumoulin, L.C. van Wissen, M. Bras, M. Janssen Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos Hum Reprod 19 2004 316 324
30. J.M. Fisher, J.F. Harvey, R.H. Lindenbaum, P.A. Boyd, P.A. Jacobs Molecular studies of trisomy 18 Am J Hum Genet 52 1993 1139 1144
31. C. Rubio, C. Simon, F. Vidal, L. Rodrigo, T. Pehlivan, J. Remohi Chromosomal abnormalities and embryo development in recurrent miscarriage couples Hum Reprod 18 2003 182 188
32. P.E. Polani Autosomal imbalance and its syndromes, excluding Down's Br Med Bull 25 1969 81 93
33. P.E. Carter, J.H. Pearn, J. Bell, N. Martin, N.G. Anderson Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics Clin Genet 27 1985 59 61
34. D.K. Gardner, M. Lane, J. Stevens, T. Schlenker, W.B. Schoolcraft Blastocyst score affects implantation and pregnancy outcome towards a single blastocyst transfer Fertil Steril 73 2000 1155 1158
35. S.J. Phillips, N.L. Dean, W.M. Buckett, S.L. Tan Consecutive transfer of day 3 embryos and of day 5-6 blastocysts increases overall pregnancy rates associated with blastocyst culture J Assist Reprod Genet 20 2003 461 464
36. J.G. Derhaag, E. Coonen, M. Bras, J.M. Bergers Janssen, R. Ignoul-Vanvuchelen, J.P. Geraedts Chromosomally abnormal cells are not selected for the extra-embryonic compartment of the human preimplantation embryo at the blastocyst stage Hum Reprod 18 2003 2565 2574
37. D. Wells, J.D. Delhanty Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization Mol Hum Reprod 6 2000 1055 1062
38. L. Voullaire, L. Wilton, J. McBain, T. Callaghan, R. Williamson Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure Mol Hum Reprod 8 2002 1035 1041
39. K.G. Henderson, T.E. Shaw, I.J. Barrett, A.H. Telenius, R.D. Wilson, D.K. Kalousek Distribution of mosaicism in human placentae Hum Genet 97 1996 650 654
40. D.K. Griffin, E.A. Millie, R.W. Redline, T.J. Hassold, M.V. Zaragoza Cytogenetic analysis of spontaneous abortions comparison of techniques and assessment of the incidence of confined placental mosaicism Am J Hum Genet 72 1997 297 301
41. J.G. Hall Review and hypotheses: somatic mosaicism: observations related to clinical genetics Am J Hum Genet 43 1988 355 363
42. C.H. Gravholt, U. Friedrich, J. Nielsen Chromosomal mosaicism a follow-up study of 39 unselected children found at birth Hum Genet 88 1991 49 52
43. M.M. Bielanska, M.M. Khalifa, A.M. Duncan Pallister-Killian syndrome a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype Am J Med Genet 65 1996 104 108
44. C.H. Bean, T.J. Hassold, L. Judis, P. Hunt Fertilization in vitro increases nondisjunction during early cleavage divisions in a mouse model system Hum Reprod 17 2002 2362 2367
45. P.A. Almaida, V.N. Bolton The effect of temperature fluctuations on the cytoskeletal organization and chromosomal constitution of the human oocyte Zygote 3 1995 357 365
46. S. Munne, C. Magli, A. Adler, G. Wright, K. de Boer, D. Mortimer Treatement-related chromosome abnormalities in human embryos Hum Reprod 12 1997 780 784
47. C.R. Quilter, S. Holman, R.M. Al Hammadi, D. Theodorides, R.J. Hastings, J.D. Delhanty Aneuploidy screening in direct chorionic villus samples by fluorescence in situ hybridisation the use of commercial probes in a clinical setting BJOG 108 2001 215 218
48. V.S. Lestou, V. Desilets, B.L. Lomax, I.J. Barrett, R.D. Wilson, S. Langlois Comparative genomic hybridization a new approach to screening for intrauterine complete or mosaic aneuploidy Am J Med Genet 92 2000 281 284
49. A. Amiel, N. Bouaron, D. Kidron, R. Sharony, E. Gaber, M.D. Fejgin CGH in the detection of confined placental mosaicism (CPM) in placentas of abnormal pregnancies Prenat Diagn 22 2002 752 758