Meiotic segregation of Robertsonian translocations ascertained in cleavage-stage embryos-implications for preimplantation genetic diagnosis

Human Reproduction

Volumn 26, Issue 6, 2011, Pages 1575-1584

  Bint, S M ^a,b   MacKie Ogilvie, C ^a   Flinter, F A ^a   Khalaf, Y ^a,b   Scriven, P N ^a,b  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

FISH; meiotic segregation; Robertsonian translocation

Indexed keywords

ADULT; ARTICLE; BLASTOMERE; CHROMOSOME ABERRATION; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DECISION MAKING; DIAGNOSTIC ACCURACY; EMBRYO; FEMALE; FEMALE FERTILITY; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOTE; HUMAN; LIVE BIRTH; LOGISTIC REGRESSION ANALYSIS; MALE; MEIOSIS; OOCYTE CLEAVAGE; OUTCOME ASSESSMENT; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PROSPECTIVE STUDY; RISK REDUCTION; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPONTANEOUS ABORTION;

ROBERTSONIA;

EID: 79957532455     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/der080     Document Type: Article

References (54)

1. Alves C, Sousa M, Silva J, Barros A. Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: The Portuguese experience. Prenat Diagn 2002;22:1153-1162. (Pubitemid 35448406)
2. Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod 2004;19:1345-1351. (Pubitemid 38807706)
3. Boué A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 1984;4:45-67. (Pubitemid 14058140)
4. Chandley AC. Meiotic studies and fertility in human translocation carriers. Chandley AC. Meio
5. Colls P, Escudero T, Zheng X, Lenzi M, Cinnioglu C, Cohen J, Munné S. Increased efficiency of preimplantation genetic diagnosis for infertility through reanalysis of dubious signals. Fertil Steril 2007;88:53-61. (Pubitemid 47001392)
6. 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; 102:117-123. (Pubitemid 28185271)
7. Coonen E, Dumoulin JC, Ramaekers FC, Hopman AH. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod 1994;9:533-537. (Pubitemid 24096412)
8. Daniel A. Distortion of female meiotic segregation and reduced male fertility in human Robertsonian translocations: Consistent with the centromere model of co-evolving centromere DNA/centromeric histone (CENP-A). Am J Med Genet 2002;111:450-452.
9. 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. (Pubitemid 19171114)
10. Durban M, Benet J, Boada M, Fernández E, Calafell JM, Lailla JM, Sánchez-García JF, Pujol A, Egozcue J, Navarro J. PGD in female carriers of balanced Robertsonian translocations and reciprocal translocations by first polar body analysis. Hum Reprod Update 2001; 7:591-602. (Pubitemid 33069618)
11. Engels H, Eggermann T, Caliebe A, Jelska A, Schubert R, Schüler HM, Panasiuk B, Zaremba J, Latos-Bieleńska A, Jakubowski L et al.. Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet 2008;146A:2611-2616.
12. Escudero T, Lee M, Carrel D, Blanco J, Munné S. Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn 2000;20:599-602. (Pubitemid 30468261)
13. 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.
14. Franssen MT, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PM, Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: Index [corrected]-control study. BMJ 2006;332:759-763.
15. Frydman N, Romana S, Le Lorc'h M, Vekemans M, Frydman R, Tachdjian G. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 2001;16:2274-2277. (Pubitemid 33054121)
16. Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd edn. New York: Oxford University Press, 2004, 122-137.
17. Gutiérrez-Mateo C, Colls P, Sánchez-García J, Escudero T, Prates R, Ketterson K, Wells D, Munné S. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 2011;95:953-958.
18. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara NA, Shaw MA, Griffin DK. Karyomapping: A universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010;47:651-658.
19. Harris DJ, Hankins L, Begleiter ML. Reproductive risk of t(13q14q) carriers: Case report and review. Am J Med Genet 1979;3:175-181. (Pubitemid 10132351)
20. Harper JC, Coonen E, De Rycke M, Harton G, Moutou C, Pehlivan T, Traeger-Synodinos J, Van Rij MC, Goossens V. ESHRE PGD consortium data collection X: Cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod 2010; 25:2685-2707.
21. Hassold T, Hunt P. To err (meiotically) is human: The genesis of human aneuploidy. Nat Rev Genet 2001;2:280-291. (Pubitemid 33674776)
22. Hassold T, Hall H, Hunt P. The origin of human aneuploidy: Where we have been, where we are going. Hum Mol Genet 2007;16:203-208.
23. Honda H, Miharu N, Samura O, He H, Ohama K. Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Hum Genet 2000;106:188-193. (Pubitemid 30156423)
24. Hook EB. Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally. N Engl J Med 1978;299:1036-1038. (Pubitemid 9050581)
25. Hook EB. Rates of 47, +13 and 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis. Am J Hum Genet 1980;32:849-858. (Pubitemid 11253907)
26. Keymolen K, Staessen C, Verpoest W, Michiels A, Bonduelle M, Haentjens P, Vanderelst J, Liebaers I. A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis. Hum Reprod 2009; 24:2365-2371.
27. Khalaf Y, Taylor A, Braude PR. Low estradiol concentrations after five days of controlled ovarian hyperstimulation for IVF are associated with poor outcome. Fertil Steril 2000;74:63-66. (Pubitemid 30427274)
28. Lamb NE, Sherman SL, Hassold TJ. Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet Genome Res 2005;111:250-255. (Pubitemid 41414475)
29. Luciani JM, Guichaoua MR, Mattei A, Morazzani MR. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet 1984;38:14-22. (Pubitemid 14127729)
30. Michiels A, Van Assche E, Liebaers I, Van Steirteghem A, Staessen C. The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization. Hum Reprod 2006;21:2396-2402. (Pubitemid 44530618)
31. Morel F, Roux C, Bresson JL. FISH analysis of the chromosomal status of spermatozoa from three men with 5,XY,der(13;14)(q10;q10) karyotype. Mol Hum Reprod 2001;7:483-488. (Pubitemid 32447775)
32. Munné S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 2002;4:183-196.
33. Munné S, Cohen J. Chromosome abnormalities in human embryos. Hum Reprod Update 1998c;4:842-855. (Pubitemid 29082473)
34. Munné S, Scott R, Sable D, Cohen J. First pregnancies after preconception diagnosis of translocations of maternal origin. Fertil Steril 1998a; 69:675-681. (Pubitemid 28188463)
35. Munné S, Magli C, Bahçe M, Fung J, Legator M, Morrison L, Cohert J, Gianaroli L. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn 1998b;18:1459-1466. (Pubitemid 29027003)
36. Munné S, Escudero T, Sandalinas M, Sable D, Cohen J. Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 2000a;90:303-308. (Pubitemid 32008783)
37. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000b; 73:1209-1218. (Pubitemid 30336771)
38. Munné S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril 2010;94:408-30.
39. Ogur G, Van Assche E, VegettiW, Verheyen G, Tournaye H, Bonduelle M, Van Steirteghem A, Liebaers I. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 2006;12:209-215.
40. Pickering S, Polidoropoulos N, Caller J, Scriven P, Ogilvie CM, Braude P. Preimplantation Genetic Diagnosis Study Group. Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil Steril 2003;79:81-90. (Pubitemid 36071243)
41. Pierce KE, Fitzgerald LM, Seibel MM, Zilberstein M. Preimplantation genetic diagnosis of chromosomal balance in embryos from a patient with a balanced reciprocal translocation. Mol Hum Reprod 1998; 4:167-172. (Pubitemid 28137565)
42. Rosenmann A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B. Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 1985;39:19-29. (Pubitemid 15149995)
43. Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, Selé B. Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum Genet 1995; 96:655-660.
44. Scriven PN, Bossuyt PM. Diagnostic accuracy: Theoretical models for preimplantation genetic testing of a single nucleus using the fluorescence in situ hybridization technique. Hum Reprod 2010; 25:2622-2628.
45. Scriven PN, Ogilvie CM. Fluorescence in situ hybridization on single cells (sex determination and chromosome rearrangements). Methods Mol Med 2007;132:19-30.
46. Scriven PN, O'Mahony F, Bickerstaff H, Yeong CT, Braude P, Mackie Ogilvie CM. Clinical pregnancy following blastomere biopsy and PGD for a reciprocal translocation carrier: Analysis of meiotic outcomes and embryo quality in two IVF cycles. Prenat Diagn 2000;20:587-592. (Pubitemid 30468259)
47. Scriven PN, Flinter FA, Braude PR, Ogilvie CM. Robertsonian translocations-reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 2001;16:2267-2273. (Pubitemid 33054120)
48. Silber S, Escudero T, Lenahan K, Abdelhadi I, Kilani Z, Munné S. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril 2003;79:30-38. (Pubitemid 36071235)
49. Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 2010;16:329-337.
50. 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;16:583-589.
51. 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.
52. Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott RT Jr. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in reimplantation human embryos. Fertil Steril 2010c [Epub ahead of print].
53. Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: Microarrays and CGH. Mol Hum Reprod 2008;14:703-710.
54. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 2009;24:1221-1228.