Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass

Molecular Human Reproduction

Volumn 16, Issue 12, 2010, Pages 944-949

  Johnson, D S ^a   Cinnioglu, C ^a   Ross, R ^b   Filby, A ^c   Gemelos, G ^a   Hill, M ^a   Ryan, A ^a   Smotrich, D ^b   Rabinowitz, M ^a   Murray, M J ^c  

^a Gene Security Network Inc   (United States)

^b La Jolla Pediatrics   (United States)

^c Northern California Fertility Medical Center   (United States)

Author keywords

Aneuploid; Inner cell mass; Microarray; Mosaicism; Trophectoderm

Indexed keywords

ANEUPLOIDY; ARTICLE; BLASTOCYST; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CHROMOSOME STRUCTURE; CONTROLLED STUDY; COPY NUMBER VARIATION; ECTODERM; EMBRYO; HUMAN; INNER CELL MASS; KARYOTYPE; MICROARRAY ANALYSIS; MITOSIS; MOLECULAR GENETICS; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADULT; ANEUPLOIDY; BLASTOCYST INNER CELL MASS; COHORT STUDIES; FEMALE; HUMANS; KARYOTYPING; MALE; MOSAICISM; PREIMPLANTATION DIAGNOSIS; TROPHOBLASTS;

EID: 78649281579     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gaq062     Document Type: Article

References (38)

1. Baart EB, Van Opstal D, Los FJ, Fauser BC, Martini E. Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5. Hum Reprod 2004;19:685-693.
2. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, Fauser BC, Van Opstal D. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 2006;21:223-233.
3. Baart EB, van den Berg I, Martini E, Eussen HJ, Fauser BC, Van Opstal D. FISH analysis of 15 chromosomes in human day 4 and day 5 preimplantation embryos: the added value of extended aneuploidy detection. Prenat Diagn 2007;27:55-63.
4. Barbash-Hazan S, Frumkin T, Malcov M, Yaron Y, Cohen T, Azem F, Amit A, Ben-Yosef D. Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril 2008;92:890-896.
5. Bielanska M, Tan SL, Ao A. High rate of mixoploidy among human blastocysts cultured in vitro. Fertil Steril 2002;78:1248-1253.
6. Bielanska M, Jin S, Bernier M, Tan SL, Ao A. Diploid-aneuploid mosaicism in human embryos cultured to the blastocyst stage. Fertil Steril 2005;84:336-342.
7. Clouston HJ, Fenwick J, Webb AL, Herbert M, Murdoch A, Wolstenholme J. Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day old human blastocysts. Hum Genet 1997;101:30-36.
8. Clouston HJ, Herbert M, Fenwick J, Murdoch AP, Wolstenholme J. Cytogenetic analysis of human blastocysts. Prenat Diagn 2002;22:1143-1152.
9. Coonen E, Derhaag JG, Dumoulin JCM, van Wissen LCP, Bras M, Janssen M, Evers JLH, Geraedts JPM. Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos. Hum Reprod 2004;19:316-324.
10. Daphnis DD, Delhanty JDA, Jerkovic S, Geyer J, Craft I, Harper JC. Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol Hum Reprod 2008;14:117-125.
11. Derhaag JG, Coonen E, Bras M, Bergers Janssen JM, Ignoul-Vanvuchelen R, Geraedts JP, Evers JL, Dumoulin JC. Chromosomally abnormal cells are not selected for the extra-embryonic compartment of the human preimplantation embryo at the blastocyst stage. Hum Reprod 2003;18:2565-2574.
12. Evsikov S, Verlinsky Y. Mosaicism in the inner cell mass of human blastocysts. Hum Reprod 1998;13:3151-3155.
13. Fragouli E, Lenzi M, Ross R, Katz-Jaffe M, Schoolcraft WB, Wells D. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod 2008;23:2596-2608.
14. Fragouli E, Katz-Jaffe M, Alfarawati S, Stevens J, Colls P, Goodall NN, Tormasi S, Gutierrez-Mateo C, Prates R, Schoolcraft WB et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Hum Reprod 2009; June 21 [Epub ahead of print].
15. Frumkin T, Malcov M, Yaron Y, Ben-Yosef D. Elucidating the origin of chromosomal aberrations in IVF embryos by preimplantation genetic analysis. Mol Cell Endocrinol 2008;282:112-119.
16. Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, Ross R, Alper M, Barrett B, Frederick J et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-hour protocol. Hum Reprod 2010;25:1066-1075.
17. Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conceptions. Science 1983;221:665-667.
18. Kokkali G, Traeger-Synodinos J, Vrettou C, Stavrou D, Jones GM, Cram DS, Makrakis E, Trounson AO, Kanavakis E, Pantos K. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod 2007;22:1443-1449.
19. Krieg SA, Lathi RB, Behr B, Westphal LM. Normal pregnancy after tetraploid karyotype on trophectoderm biopsy. Fertil Steril 2009;92:1169.e9-1169.e10.
20. Li M, DeUgarte CM, Surrey M, Danzer H, DeCherney A, Hill D. Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil Steril 2005;84:1395-1400.
21. MacArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005;84:1628-1636.
22. MacArthur 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;28:434-442.
23. Magli MC, Jones GM, Gras L, Gianaroli L, Korman I, Trounson AO. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000;15:1781-1786.
24. Munné S, Sultan KM, Weier H-UG, Grifo JA, Cohen J, Rosenwaks Z. Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryo before transfer. Am J Obstet Gynecol 1995;172:1191-1201.
25. Munné S, Velilla E, Colls P. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril 2005;84:1328-1334.
26. Munné S, Chen S, Colls P, Garrisi J, Zheng X, Cekleniak N, Lenzi M, Hughes P, Fischer J, Garrisi M et al. Maternal age, morphology, development, and chromosome abnormalities in over 6000 cleavage-stage embryos. Reprod BioMed Online 2007;14:628-634.
27. Ruangvutilert P, Delhanty JDA, Serhal P, Simopoulou M, Rodeck CH, Harper JC. FISH analysis on day 5 post-insemination of human arrested and blastocyst stage embryos. Prenat Diagn 2000;20:252-260.
28. Sandalinas M, Sadowy S, Alikani M, Calderon G, Cohen J, Munné S. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 2001;16:1954-1958.
29. Schoolcraft WB, Gardner DK, Lane M, Schlenker T, Hamilton F, Meldrum DR. Blastocyst culture and transfer: Analysis of results and parameters affecting outcome in two IVF programs. Fertil Steril 1999;72:604-609.
30. 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 2009; Nov 23 [Epub ahead of print].
31. 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;92:1886-1894.
32. Simpson JL. Causes of fetal wastage. Clin Obstet Gynecol 2007;50:10-30.
33. Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009;15:577-583.
34. Veeck LL, Bodine R, Clarke RN, Berrios R, Libraro J, Moschini RM, Zaninovic N, Rosenwaks Z. High pregnancy rates can be achieved after freezing and thawing human blastocysts. Fertil Steril 2004;82:1418-1427.
35. Veiga A, Gil Y, Boada M, Carrera M, Vidal F, Boiso I, Ménézo Y, Barri PN. Confirmation of diagnosis in preimplantation genetic diagnosis through blastocyst culture: preliminary experience. Prenat Diagn 1999;19:1242-1247.
36. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000;106:210-217.
37. Voullaire L, Wilton L, McBain J, Callaghan T, Williamson R. Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Mol Hum Reprod 2002;8:1035-1041.
38. Wells D, Delhanty JDA. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000;6:1055-1062.