Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: Insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development

Human Reproduction

Volumn 28, Issue 2, 2013, Pages 509-518

  Capalbo, Antonio ^a   Bono, Sara ^b   Spizzichino, Letizia ^b   Biricik, Anil ^b   Baldi, Marina ^b   Colamaria, Silvia ^a   Ubaldi, Filippo Maria ^a   Rienzi, Laura ^a   Fiorentino, Francesco ^b  

^a GENERA   (Italy)

^b GENOMA   (Italy)

Author keywords

aneuploidies; blastocyst; PGS; polar bodies; preimplantation genetic screening

Indexed keywords

ADULT; ARTICLE; BIOPSY; BLASTOCYST; CELL MATURATION; CHROMOSOME ANALYSIS; CHROMOSOME LOSS; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; EMBRYO DEVELOPMENT; ENDOMETRIOSIS; FEMALE; FERTILIZATION IN VITRO; GENETIC SCREENING; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE; LONGITUDINAL STUDY; MALE INFERTILITY; MEIOSIS; OOCYTE RETRIEVAL; OVARIAN STIMULATION; OVARY POLYCYSTIC DISEASE; POLAR BODY; PREIMPLANTATION EMBRYO; PREMATURE OVARIAN FAILURE; PROSPECTIVE STUDY; SPERMATOZOON COUNT; SPERMATOZOON MOTILITY; STIMULATION; TRISOMY; TROPHOBLAST;

EID: 84872553398     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des394     Document Type: Article

References (54)

1. Alfarawati S, Fragouli E, Colls P, Stevens J, Gutierrez-Mateo C, Schoolcraft WB, Katz-Jaffe MG, Wells D. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril 2011;2: 520-524.
2. Angell RR. Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet 1991;86: 383-387.
3. Angell RR. Possible pitfalls in preimplantation diagnosis of chromosomal disorders based on polar body analysis. Hum Reprod 1994;9: 181e2.
4. 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;3: 685-693.
5. Bromfield JJ, Coticchio G, Hutt K, Sciajno R, Borini A, Albertini DF. Meiotic spindle dynamics in human oocytes following slow-cooling cryopreservation. Hum Reprod 2009;9: 2114-2123.
6. Colls P, Escudero T, Cekleniak N, Sadowy S, Cohen J, Munne S. Increased efficiency of preimplantation genetic diagnosis for infertility using 'no result rescue'. Fertil Steril 2007;1: 53-61.
7. Coticchio G, Bromfield JJ, Sciajno R, Gambardella A, Scaravelli G, Borini A, Albertini DF. Vitrification may increase the rate of chromosome misalignment in the metaphase II spindle of human mature oocytes. Reprod Biomed Online 2009;19(Suppl. 3): 29-34.
8. Delhanty JD. Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res 2005;3-4: 237-244.
9. Engel E. Invited editorial: uniparental disomies in unselected populations. Am J Hum Genet 1999;63: 962-966.
10. Fiorentino F. Array comparative genomic hybridization: its role in preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 2012; 4: 203-209.
11. Fiorentino F, Kokkali G, Biricik A, Stavrou D, Ismailoglu B, De Palma R, Arizzi L, Harton G, Sessa M, Pantos K. Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 2010;94: 2001-2011.
12. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, Ubaldi FM, Iammarrone E, Gordon A, Pantos K. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 2011;26: 1925-1935.
13. Fishel S, Gordon A, Lynch C, Dowell K, Ndukwe G, Kelada E, Thornton S, Jenner L, Cater E, Brown A et al. Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy-the future of IVF? Fertil Steril. 2010;3: 1006.e7-1006.e10.
14. 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.
15. Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet 2001;12: 910-916.
16. Geraedts J, Montag M, Magli MC, Repping S, Handyside A, Staessen C, Harper J, Schmutzler A, Collins J, Goossens V et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod 2011;11: 3173-3180.
17. Gutierrez-Mateo C, Colls P, Sanchez-Garca J, Escudero T, Prates R, Ketterson K, Wells D, Munne S. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 2011;3: 953-958.
18. Handyside AH, Montag M, Magli MC, Repping S, Harper J, Schmutzler A, Vesela K, Gianaroli L, Geraedts J. Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation. Eur J Hum Genet 2012;7: 742-747.
19. Harper JC, Harton G. The use of arrays in PGD/PGS. Fertil Steril 2010; 94: 1173-1177.
20. Harper J, Coonen E, De Rycke M, Fiorentino F, Geraedts J, Goossens V, Harton G, Moutou C, Pehlivan Budak T, Renwick P et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. Hum Reprod 2010; 4: 821-823.
21. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001;2: 280-291.
22. Hulten MA, Patel S, Jonasson J, Iwarsson E. On the origin of the maternal age effect in trisomy 21 Down syndrome: the oocyte mosaicism selection model. Reproduction 2010;1: 1-9.
23. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD)-fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999;82: 265-274.
24. Li M, DeUgarte CM, Surrey M, Danzer H, DeCherney A, Hill DL. Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil Steril 2005;5: 1395-1400.
25. Macklon NS, Geraedts JP, Fauser BC. Conception to ongoing pregnancy: the 'black box' of early pregnancy loss. Hum Reprod Update 2002;4: 333-343.
26. Magli MC, Gianaroli L, Ferraretti AP, Lappi M, Ruberti A, Farfalli V. Embryo morphology and development are dependent on the chromosomal complement. Fertil Steril 2007;3: 534-541.
27. Mastenbroek S, Twisk M, van der Veen F, Repping S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011;4: 454-466.
28. Menasha J, Levy B, Hirschhorn K, Kardon NB. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med 2005;7: 251-263.
29. Munne S, Sandalinas M, Escudero T, Marquez C, Cohen J. Chromosome mosaicism in cleavage-stage human embryos: evidence of a maternal age effect. Reprod Biomed Online 2002;3: 223-232.
30. Northrop LE, Treff NR, Levy B, Scott RT Jr. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod 2010;8: 590-600.
31. Obradors A, Rius M, Cuzzi J, Daina G, Gutierrez-Mateo C, Pujol A, Marina F, Marquez C, Benet J, Navarro J. Errors at mitotic segregation early in oogenesis and at first meiotic division in oocytes from donor females: comparative genomic hybridization analyses in metaphase II oocytes and their first polar body. Fertil Steril 2010;2: 675-679.
32. Purvis-Smith SG, Saville T, Manass S, Yip M-Y, Lam-Po-Tang PRL, Duffy B, Johnston H, Leigh D, McDonald B. Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15. Am J Hum Genet 1992;50: 1348-1350.
33. Rabinowitz M, Ryan A, Gemelos G, Hill M, Baner J, Cinnioglu C, Banjevic M, Potter D, Petrov DA, Demko Z. Origins and rates of aneuploidy in human blastomeres. Fertil Steril 2012;2: 395-401.
34. Rienzi L, Ubaldi F, Anniballo R, Cerulo G, Greco E. Preincubation of human oocytes may improve fertilization and embryo quality after intracytoplasmic sperm injection. Hum Reprod 1998;4: 1014-1019.
35. Rienzi L, Romano S, Albricci L, Maggiulli R, Capalbo A, Baroni E, Colamaria S, Sapienza F, Ubaldi F. Embryo development of fresh 'versus' vitrified metaphase II oocytes after ICSI: a prospective randomized sibling-oocyte study. Hum Reprod 2010;1: 66-73.
36. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bio Essays 2000;22: 452-459.
37. 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 2010;94: 1700-1706.
38. Scott RT Jr, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril 2012;4: 870-875.
39. Scott RT Jr, Treff NR, Stevens J, Forman EJ, Hong KH, Katz-Jaffe MG, Schoolcraft WB. Delivery of a chromosomally normal child from an oocyte with reciprocal aneuploid polar bodies. J Assist Reprod Genet 2012b;6: 533-537.
40. Scriven PN, Ogilvie CM, Khalaf Y. Embryo selection in IVF: is polar body array comparative genomic hybridization accurate enough? Hum Reprod 2012;4: 951-953.
41. Sher G, Keskintepe L, Keskintepe M, Ginsburg M, Maassarani G, Yakut T, Baltaci V, Kotze D, Unsal E. Oocyte karyotyping by comparative genomic hybridization provides a highly reliable method for selecting "competent" embryos, markedly improving in vitro fertilization outcome: a multiphase study Fertil Steril 2007;5: 1033-1040.
42. Spandorfer SD, Davis OK, Barmat LI, Chung PH, Rosenwaks Z. Relationship between maternal age and aneuploidy in in vitro fertilization pregnancy loss. Fertil Steril 2004;81: 1265-1269.
43. Tachibana-Konwalski K, Godwin J, van der Weyden L, Champion L, Kudo NR, Adams DJ, Nasmyth K. Rec8-containing cohesin maintains bivalents without turnover during the growing phase of mouse oocytes. Genes Dev 2010;22: 2505-2516.
44. Tarn JJ, Handyside AH. Embryo biopsy strategies for preimplantation diagnosis. Fertil Steril 1993;5: 943-952.
45. Treff NR, Levy B, Su J, Northrop LE, Tao X, Scott RT Jr. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod 2010a;8: 583-589.
46. Treff NR, Su J, Tao X, Levy B, Scott RT Jr. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril 2010b; 94: 2017-2021.
47. Treff NR, Scott RT Jr, Su J, Campos J, Stevens J, Schoolcraft W, Katz-Jaffe M. Polar body morphology is not predictive of its cell division origin. J Assist Reprod Genet 2012;2: 137-139.
48. Tsukishiro S, Li QY, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S. Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. J Hum Genet 2005;3: 112-117.
49. Ubaldi F, Anniballo R, Romano S, Baroni E, Albricci L, Colamaria S, Capalbo A, Sapienza F, Vajta G, Rienzi L. Cumulative ongoing pregnancy rate achieved with oocyte vitrification and cleavage stage transfer without embryo selection in a standard infertility program. Hum Reprod 2010;5: 1199-1205.
50. van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, Korevaar JC, Heineman MJ, van der Veen F, Repping S. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum Reprod Update 2011;5: 620-627.
51. Vanneste E, Voet T, Melotte C, Debrock S, Sermon K, Staessen C, Liebaers I, Fryns JP, D'Hooghe T, Vermeesch JR. What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum Reprod 2009a;24: 2679-2682.
52. Vanneste E, Voet T, Le CaignecC,AmpeM,Konings P, MelotteC,Debrock S, Amyere M, Vikkula M, Schuit F et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009b;5: 577-583.
53. 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.
54. 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: 1055-1062.