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>Revistas >Revista Mexicana de Medicina de la Reproducción >Año 2014, No. 2


Sánchez-Usabiaga RA, Batista-Espinoza A, Hurtado-Amador R, Romero-Tovar S
Tamizaje genético preimplantacional: desarrollo y aplicaciones
Rev Mex Med Repro 2014; 6.7 (2)

Idioma: Español
Referencias bibliográficas: 40
Paginas: 67-74
Archivo PDF: 524.52 Kb.


Texto completo




RESUMEN

La aplicación de la tecnología genómica inició una nueva era en el campo de la medicina reproductiva, con gran potencial de desarrollo en los próximos años. En la actualidad, durante un ciclo de fecundación in vitro (FIV) es posible obtener material genético de un ovocito o de un embrión en desarrollo y evaluar así los 23 pares de cromosomas. Esto se conoce como tamizaje genético preimplantacional, que permite identificar aneuploidías (alteración en el número de cromosomas) en ovocitos o embriones en desarrollo. Recientemente, el tamizaje genético preimplantacional se propuso para identificar embriones euploides potencialmente viables y elevar las tasas de implantación y de nacidos vivos. Sin embargo, a quiénes deberá ofrecerse el tamizaje genético preimplantacional es un tema de gran debate.


Palabras clave: diagnóstico genético preimplantacional, aneuploidías, fecundación in vitro, tamizaje genético preimplantacional.


REFERENCIAS

  1. Rizzo JM, Buck MJ. Key principles and clinical applications of “next-generation” DNA sequencing. Cancer Prev Res 2012;5:887-900.

  2. Brezina PR, Benner A, Rechitsky S, et al. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril 2011;95:1786.

  3. Brezina PR, Brezina DS, Kearns WG. Preimplantation genetic testing. BMJ 2012;345:5908.

  4. Brezina PR, Zhao Y. The ethical, legal, and social issues impacted by modern assisted reproductive technologies. Obstet Gynecol Int 2012;2012:686253.

  5. Ajduk A, Zernicka-Goetz M. Advances in embryo selection methods. F1000 Biol Rep 2012;4:11.

  6. Fragouli E, Wells D, Whalley KM, Mills JA, et al. 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.

  7. Vialard F, Boitrelle F, Molina-Gomes D, Selva J. Predisposition to aneuploidy in the oocyte. Cytogenet Genome Res 2011;133:127-135.

  8. Harper JC, Wilton L, Traeger-Synodinos J, et al. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update 2012;18:234-247.

  9. Monni G, Ibba RM, Zoppi MA. Prenatal genetic diagnosis through chorionic villus sampling. In: Milunsky A, Milunsky J, editors. Genetic disorders and the fetus, 6th ed. Oxford: Wiley-Blackwell, 2010.

  10. Kearns WG, Pen R, Graham J, et al. Preimplantation genetic diagnosis and screening. Semin Reprod Med 2005;23:336-347.

  11. Verlinsky Y, Rechitsky S, Evsikov S, et al. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn 1992;12:103-110.

  12. Tuffs A. Germany allows restricted access to preimplantation genetic testing. BMJ 2011;343:4425.

  13. Schoolcraft WB, Fragouli E, Stevens J, Munne S, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 2010;94:1700-1706.

  14. Brezina PR, Kearns WG. Preimplantation genetic screening in the age of 23-chromosome evaluation; why FISH is no longer an acceptable technology. J Fertil In Vitro 2011;1:103.

  15. Munné S, Chen S, Fischer J, et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril 2005;84:331-335.

  16. Platteau P, Staessen C, Michiels A, Van Steirteghem A, et al. Preimplantation genetic diagnosis for aneuploidy screening in women older than 37 years. Fertil Steril 2005;84:319- 324.

  17. Mantzouratos A, Mania A, Fragouli E, et al. Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum Reprod 2007;22:1844-1853.

  18. Mastenbroek S, Twisk M, Echten-Arends J, Sikkema-Raddatz B, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;357:9-17.

  19. Checa MA, Alonso-Coello P, Solà I, Robles A, et al. IVF/ ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis. J Assist Reprod Genet 2009;26:273-283.

  20. Mastenbroek S, Twisk M, van der Veen F, Repping S. Preimplantation genetic screening: a systematic review and metaanalysis of RCTs. Hum Reprod Update 2011;17:454-466.

  21. Practice Committee of Society for Assisted Reproductive Technology, Practice Committee of American Society for Reproductive Medicine. Preimplantation genetic testing: A practice committee opinion. Fertil Steril 2008;90:136-143.

  22. Harton GL, Magli MC, Lundin K, Montag M, et al. ESHRE PGD Consortium/Embryology Special Interest Group–best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod 2011;26:41-46.

  23. Munné S, Weier HU, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod 1994;51:373-379.

  24. van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, et al. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum Reprod Update 2011;17:620-627. 74 Revista Mexicana de Medicina de la Reproducción Volumen 7, Núm. 2, octubre-diciembre 2014

  25. Bielanska M, Tan SL, Ao A. High rate of mixoploidy among human blastocysts cultured in vitro. Fertil Steril 2002;78:1248-1253.

  26. Brezina PR, Sun Y, Anchan RM, Li G, et al. Aneuploid embryos as determined by 23 single nucleotide polymorphism (SNP) microarray preimplantation genetic screening (PGS) possess the potential to genetically normalize during early development. Fertil Steril 2012;98:108.

  27. Scott KL, Hong KH, Scott RT Jr. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril 2013;100:608-614.

  28. Schoolcraft WB, Treff NR, Stevens JM, Ferry K, et al. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarraybased comprehensive chromosome screening in infertile patients. Fertil Steril 2011;96:638-640.

  29. Schoolcraft WB, Katz-Jaffe MG. Comprehensive chromosome screening of trophectoderm with vitrification facilitates elective single-embryo transfer for infertile women with advanced maternal age. Fertil Steril 2013;100:615-619.

  30. Harper JC, Sengupta SB. Preimplantation genetic diagnosis: state of the art 2011. Hum Genet 2012;131:175-186.

  31. Brezina PR, Tobler K, Benner AT, Du L, et al. All 23 chromosomes have significant levels of aneuploidy in recurrent pregnancy loss couples. Fertil Steril 2012;97:7.

  32. Brezina PR, Tobler K, Benner AT, Du L, et al. In vitro fertilization (IVF) cycles and 4,873 embryos using 23-chromosome single nucleotide polymorphism (SNP) microarray preimplantation genetic screening (PGS). Fertil Steril 2012;97:23-24.

  33. Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod 2008;14:703-710.

  34. Forman EJ, Tao X, Ferry KM, Taylor D, et al. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod 2012;27:1217-1222.

  35. Schoolcraft WB, Fragouli E, Stevens J, Munne S, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 2010;94:1700-1706.

  36. Habela CW, Hamosh A. Genetic testing for intellectual disability: A role in diagnostic evaluation. Recent AAP guidelines on genetic testing in children warrant pediatricians’ awareness of the newest screening modalities. Contemporary Pediatrics -Montvale- 2013;30.

  37. Yang Z, Liu J, Collins GS, Salem SA, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012;5:24.

  38. Scott RT Jr, Upham KM, Forman EJ, Hong KH, et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril 2013;100:697-703.

  39. Forman EJ, Hong KH, Ferry KM, Tao X, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril 2013;100:608- 614.

  40. Mamas T, Gordon A, Brown A, Harper J, Sengupta S. Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. Fertil Steril 2012;97:943-947.



>Revistas >Revista Mexicana de Medicina de la Reproducción >Año2014, No. 2
 

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