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2015, Number 2

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Rev Mex Med Repro 2015; 7.8 (2)

Identification of aneuploidies in 24 chromosomes in blastocyst during procedures of in vitro fertilization.

Sánchez-Usabiaga RA, Vera-Aguado MG, Batista-Espinoza A, Ramírez E, Marchese MV, Cruz-Orozco OP

Language: Spanish
References: 34
Page: 93-100
PDF size: 318.78 Kb.


ABSTRACT

Background: Despite advances in the methods of in vitro fertilization (IVF), in most cases fail to achieve a live birth. It has been suggested that embryonic aneuploidy are a major cause of treatment failure. New molecular technologies have been proposed for preimplantation genetic screening (PGS) in the 23 pairs of chromosomes.
Objective: To determine the frequency of aneuploidy in embryos achieved in a private IVF clinic in Mexico, and its relationship with maternal age and parental origin.
Material and Method: A prospective and descriptive study was done from January 2013 to July 2015, analyzing embryos obtained by IVF, that were studied by DNA microarrays based on single nucleotide polymorphisms, known as "parental support" (microarray PS). The frequency of aneuploidy in 4 different groups (‹ 35 years [A], 35-39 years [B], 40 years or more [C], and egg donation [D]), the type of aneuploidy (nullisomy, monosomy, trisomy, deletion, duplication) and the origin of aneuploidy (maternal, paternal or mixed) were analyzed. All embryos were vitrified for subsequent transfer to the uterus.
Results: Three hundred eighty-three embryos were included, from which 44% were aneuploid, having a frequency of 43%, 44%, 70% and 28% in groups A, B, C and D, respectively. The most frequent abnormalities were: multiple chromosome aneuploidy (34%), trisomies (22%), two chromosome aneuploidy (19.5%), monosomies (15.5%), and deletion/duplication (9%). In patients over 35, over 70% of the aneuploidies were of maternal origin.
Conclusions: Preimplantation genetic analysis in the 23 pairs of chromosomes shows a high frequency of aneuploid embryos. Aneuploidy increases in relation to the age of the woman being mostly of maternal origin. This clinical information is relevant to the assessment and decision-making of patients during IVF procedures also avoids storing aneuploid embryos.


REFERENCES

  1. Centers for Disease Control and Prevention. American Society for Reproductive Medicine. Society for Assisted Reproductive Technology. 2010 Assisted Reproductive Technology National Summary Report. Atlanta: U.S. Department of Health and Human Services, 2012. Available at: http://www.cdc.gov/art/ART2010/

  2. Vanneste E, Voet T, Le Caignec C, Ampe M, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009;15:577-583.

  3. Fragouli E, Lenzi M, Ross R, Katz-Jaffe M, et al. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod 2008;23:2596-2608.

  4. 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.

  5. 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.

  6. Johnson DS, Gemelos G, Baner J, Ryan A, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod 2010;25:1066-1075.

  7. 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.

  8. Baart EB, van den Berg I, Martini E, Eussen HJ, et al. 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.

  9. Munne S, Chen S, Colls P, Garrisi J, et al. Maternal age, morphology, development, and chromosome abnormalities in over 6000 cleavage-stage embryos. Reprod Biomed Online 2007;14:628-634.

  10. Munne S, Magli C, Bahce M, Fung J, et al. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat Diagn 1998;18:1459-1466.

  11. Warburton D, Kline J, Stein Z. Cytogenetic abnormalities in spontaneous abortions of recognized conceptions. In: Porter IH, Willey A, editors. Perinatal genetics: diagnosis and treatment. New York: Academic Press, 1986;133.

  12. Bianco K, Caughey AB, Shaffer BL, Davis R, Norton ME. History of miscarriage and increased incidence of fetal aneuploidy in subsequent pregnancy. Obstet Gynecol 2006;107:1098-1102.

  13. Rubio C, Pehlivan T, Rodrigo L, Simon C, et al. Embryo aneuploidy screening for unexplained recurrent miscarriage: a minireview. Am J Reprod Immunol 2005;53:159-165.

  14. Sullivan AE, Silver RM, LaCoursiere DY, Porter TF, Branch DW. Recurrent fetal aneuploidy and recurrent miscarriage. Obstet Gynecol 2004;104:784-788.

  15. Verlinsky Y, Tur-Kaspa I, Cieslak J, Bernal A, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 2005;11:219-225.

  16. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet 2004;363:1633-1641.

  17. Simpson JL. Causes of fetal wastage. Clin Obstet Gynecol 2007;50:10-30.

  18. Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, et al. ESHRE PGD Consortium Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 2005;20:35-48.

  19. Colls P, Escudero T, Cekleniak N, Sadowy S, et al. Increased efficiency of preimplantation genetic diagnosis for infertility using ‘‘no result rescue’’. Fertil Steril 2007;88:53-61.

  20. Verlinsky Y, Cohen J, Munne S, Gianaroli L, et al. Over a decade of experience with preimplantation genetic diagnosis. Fertil Steril 2004;82:302-303.

  21. Cupisti S, Conn CM, Fragouli E, Whalley K, et al. Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. Prenat Diagn 2003;23:663-668.

  22. Fragouli E, Wells D, Whalley KM, Mills JA,. Increased susceptibility to maternal aneuploidy demonstrated by comparative genomic hybridization analysis of human MII oocytes and first polar bodies. Cytogenet Genome Res 2006;114:30-38.

  23. Fragouli E, Wells D, Thornhill A, Serhal P, et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod 2006;21:2319-2328.

  24. Wilton L. Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization. Hum Reprod Update 2005;11:33-41.

  25. DeUgarte CM, Li M, Surrey M, Danzer H, et al. Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis. Fertil Steril 2008;90:1049-1054.

  26. Mir P, Rodrigo L, Mateu E, Peinado V, et al. Improving FISH diagnosis for preimplantation genetic aneuploidy screening. Hum Reprod 2010;25:1812-1817.

  27. Le Caignec C, Spits C, Sermon K, De Rycke M, et al. Singlecell chromosomal imbalances detection by array CGH. Nucleic Acids Res 2006;34:e68.

  28. Hu DG, Webb G, Hussey N. Aneuploidy detection in single cells using DNA array-based comparative genomic hybridization. Mol Hum Reprod 2004;10:283-289.

  29. Hellani A, Abu-Amero K, Azouri J, El-Akoum S. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online 2008;17:841-847.

  30. Fragouli E, Delhanty JD, Wells D. Single cell diagnosis using comparative genomic hybridization after preliminary DNA amplification still needs more tweaking: too many miscalls. Fertil Steril 2007;88:247-248; author reply 248-249.

  31. Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr Genomics 2012;13:463-470.

  32. Franasiak JM, Forman EJ, Hong KH, Werner MD, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril 2014;101:656-663.

  33. Harper J, Coonen E, De Rycke M, Fiorentino F, et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. Hum Rep 2010;25:821-823.

  34. Fragouli E, Wells D. Aneuploidy in the human blastocyst. Cytogenet Genome Res 2011;133:149-159.




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