2020, Número 3
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Revista Cubana de Obstetricia y Ginecología 2020; 46 (3)
El estudio citogenético en el manejo de las parejas con aborto habitual en Cuba
Soriano TM, Castelví LA, Barrios MA, García GD, Méndez RLA
Idioma: Español
Referencias bibliográficas: 65
Paginas: 1-20
Archivo PDF: 555.23 Kb.
RESUMEN
Introducción: La pérdida recurrente de embarazos en una pareja constituye una situación de estrés que suele afectar al 1 % de estas. La mitad de los casos permanece sin un diagnóstico preciso a su patología. En Cuba no se cuenta con un registro riguroso de este fenómeno, pero el número de parejas estudiadas cada año por esta razón, en el laboratorio de Citogenética, resulta elevado.
Objetivos: Ofrecer una revisión actualizada para el análisis por técnicas de citogenética a parejas que presentan pérdidas recurrentes de embarazo.
Métodos: Se efectuó una revisión bibliográfica en las bases de datos: Ebsco host, ClinicalKey, Pubmed, Dynamed Plus y SciELO que reveló el interés por el manejo de los abortos recurrentes y el papel de los estudios cromosómicos en el proceso.
Análisis de información: A pesar de las diferencias existentes, para considerar una pareja con pérdidas recurrentes ha sido determinado que bastan dos pérdidas ocurridas antes de las 20 semanas de gestación para comenzar un análisis en el cual se incluye la realización de un cariotipo. Los investigadores sugieren realizar un estudio al producto de la concepción para considerar la importancia de estudiar a los padres.
Conclusiones: Identificar una causa cromosómica para el aborto puede ser psicológicamente importante para superar el dolor de la pérdida, así como para tomar la decisión de intentarlo nuevamente. El análisis citogenético a los abortos previos es un componente importante en el asesoramiento de parejas con un registro de abortos recurrentes.
REFERENCIAS (EN ESTE ARTÍCULO)
Rajcan-Separovic E. Chromosome microarrays in human reproduction. Human reproduction update. [Internet]. 2012 [citado 21/10/2019];18(5):555-67. Disponible en: https://academic.oup.com/humupd/article/18/5/555/599842
Caramins MC, Saville T, Shakeshaft R, Mullan GL, Miller B, Yip MY, et al. A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss. Genetics in Medicine. [Internet]. 2011 [citado 21/10/2019];13(1):46. Disponible en: https://www.nature.com/articles/gim920118
Glenn Lauritsen J. The significance of oral contraceptives in causing chromosome anomalies in spontaneous abortions. Acta obstetricia et gynecologica Scandinavica. [Internet]. 1975 [citado 21/10/2019];54(3):261-4. Disponible en: https://www.tandfonline.com/doi/abs/10.3109/00016347509157773
Hassold TJ. Chromosome abnormalities in human reproductive wastage. Trends in Genetics. [Internet]. 1986 [citado 21/10/2019];2:105-10. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/0168952586901940
Kalousek D, Pantzar T, Tsai M, Paradice B. Early spontaneous abortion: morphologic and karyotypic findings in 3912 cases. Birth defects original article series. [Internet]. 1993 [citado 21/10/2019];29(1):53-61. Disponible en: https://pubmed.ncbi.nlm.nih.gov/8280893/
Stephenson M, Awartani K, Robinson W. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case–control study. Human Reproduction. [Internet]. 2002 [citado 21/10/2019];17(2):446-51. Disponible en: https://academic.oup.com/humrep/article/17/2/446/568974
Pandey D, Gupta S. Current Update on Recurrent Pregnancy Loss. Journal of Basic and Clinical Reproductive Sciences. January-June. 2019;8(1).
Saravelos SH, Li TC. Unexplained recurrent miscarriage: how can we explain it? Human reproduction. [Internet]. 2012 [citado 21/10/2019];27(7):1882-6. Disponible en: https://academic.oup.com/humrep/article/27/7/1882/792890
Altunaga Palacio M, Rodríguez Morales Y, Lugones Botell M. Manejo del embarazo ectópico. Rev Cubana Obstet Ginecol. [Internet]. 2011 [citado 21/10/2019];37(4):513-23. Disponible en: http://scielo.sld.cu/scielo.php?pid=S0138-600X2011000400008&script=sci_arttext&tlng=pt
Lozano Guadarrama A, Martínez Moreira F, Santana Porbeu S, Coto Rodeiro R, García Dafonte G. Diagnóstico precoz de embarazo en la atención primaria mediante determinación cualitativa de gonadotropina coriónica humana. Revista Cubana de Medicina General Integral. 1998;14(5):434-9.
Practice-Committee. Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertility and sterility. [Internet]. 2013 [citado 21/10/2019];99(1):63. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S001502821202242X
Saravelos SH, Regan L. Unexplained recurrent pregnancy loss. Obstetrics and Gynecology Clinics. [Internet]. 2014 [citado 21/10/2019];41(1):157-66. Disponible en: https://www.obgyn.theclinics.com/article/S0889-8545(13)00095-8/abstract.
Oliva Rodríguez J, Hernández Méndez M, Festary Casanovas A. Afecciones uterinas y pérdidas recurrentes del embarazo. Rev Cubana Obstet Ginecol. 2003;29(3):0-2.
Regan L, Braude PR, Trembath PL. Influence of past reproductive performance on risk of spontaneous abortion. BMJ. [Internet]. 1989 [citado 21/10/2019];299(6698):541-5. Disponible en: https://www.bmj.com/content/299/6698/541.short
Barrios Martínez A, Méndez Rosado LA. Enfoque de los principales factores causales en los trastornos reproductivos. Rev Cubana Obstet Ginecol [Internet]. 2014 [citado 21/10/2019];40(2):246-57. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0138-600X2014000200011
Practice Committee of the American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss. Fertility and sterility. [Internet]. 2008 [citado 21/10/2019];89(6):1603. Disponible en: https://pubmed.ncbi.nlm.nih.gov/18485348/
Stirrat GM. Recurrent miscarriage I: definition and epidemiology. The Lancet. 1990;336(8716):673-5.
Stirrat G. Recurrent miscarriage II: clinical associations, causes, and management. The Lancet. 1990;336(8717):728-33.
Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S. Potential genetic causes of miscarriage in euploid pregnancies: a systematic review. Human reproduction update. 2019;25(4):452-72.
Ogasawara M, Aoki K, Okada S, Suzumori K. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertility and sterility. [Internet]. 2000 [citado 21/10/2019];73(2):300-4. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0015028299004951
Jaslow CR, Carney JL, Kutteh WH. Diagnostic factors identified in 1020 women with two versus three or more recurrent pregnancy losses. Fertility and sterility. 2010;93(4):1234-43.
Vega Conejo V, Viñas Portilla CI, Lantigua Cruz A, del Monte Sotolongo E. Defectos cromosómicos y fallas reproductivas: Un estudio en 452 pacientes. Rev Cubana Obstet Ginecol. 1999;25(1):19-23.
Quiñones Maza O, Menéndez Camporredondo S, Hechevarría Estenoz D, Sánchez Bourzac M. Estudio citogenético en parejas con abortos espontáneos y pérdidas fetales a repetición. Rev Cubana Obstet Ginecol. 1991;17(2):120-6.
Homer HA. Modern management of recurrent miscarriage. Australian and New Zealand Journal of Obstetrics and Gynaecology. 2019;59(1):36-44.
Dyna Med Plus [Internet]. Ipswich (MA): EBSCO Information Services. 1995 - Record No. T116364. Recurrent pregnancy loss, La Habana [Internet]. 2019 [citado 30/11/2018]. Disponible en: https://www.dynamed.com/topics/dmp~AN~T116364.Registration and login required. 1995.
Garrido-Gimenez C, Alijotas-Reig J. Recurrent miscarriage: causes, evaluation and management. Postgraduate medical journal [Internet]. 2015 [citado 30/11/2018];91(1073):151-62. Disponible en: https://pmj.bmj.com/content/91/1073/151.short
Barad DH, Kushnir VA, Gleicher N. Focus on recurrent miscarriage phenotypes. Fertility and sterility [Internet]. 2017 [citado 30/11/2018];107(1):64. Disponible en: https://pubmed.ncbi.nlm.nih.gov/27887715/
Ljunger E, Cnattingius S, Lundin C, Annerén G. Chromosomal anomalies in first‐trimester miscarriages. Acta obstetrica et gynecologica Scandinavica. 2005;84(11):1103-7. DOI: https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/j.0001-6349.2005.00882.x
Strom CM, Ginsberg N, Applebaum M, Bozorgi N, White M, Caffarelli M, et al. Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype. Journal of assisted reproduction and genetics. 1992;9(5):458-61.
Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss. Cold Spring Harbor perspectives in medicine [Internet]. 2015 [citado 30/11/2018];5(3):a023119. Disponible en: http://perspectivesinmedicine.cshlp.org/content/5/3/a023119.short
Bell KA, Van Deerlin PG, Haddad BR, Feinberg RF. Cytogenetic diagnosis of “normal 46, XX” karyotypes in spontaneous abortions frequently may be misleading. Fertility and sterility. 1999;71(2):334-41.
Mathur N, Triplett L, Stephenson MD. Miscarriage chromosome testing: utility of comparative genomic hybridization with reflex microsatellite analysis in preserved miscarriage tissue. Fertility and sterility [Internet]. 2014 [citado 30/11/2018];101(5):1349-52. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0015028214001423
McQueen DB, Lathi R, editors. Miscarriage chromosome testing: Indications, benefits and methodologies. Seminars in perinatology. España: Elsevier; 2018.
Blue NR, Page JM, Silver RM, editors. Genetic abnormalities and pregnancy loss. Seminars in perinatology. España: Elsevier; 2018.
Rohilla M. Recurrent pregnancy loss-causes and management. Journal of Gynecology and Neonatal Biology. 2017;3(2):0-5.
Šípek Jr A, Mihalová R, Panczak A, Hrčková L, Janashia M, Kaspříková N, et al. Heterochromatin variants in human karyotypes: a possible association with reproductive failure. Reproductive biomedicine online [Internet]. 2014 [citado 30/11/2018];29(2):245-50. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S1472648314002612
Dong Y, Jiang YT, Du RC, Zhang HG, Li LL, Liu RZ. Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China. Journal of assisted reproduction and genetics. 2013;30(2):275-81.
Karpen G, Endow S. Meiosis: chromosome behaviour and spindle dynamics. In: Endow S, Glover D, editors. Frontiers in Biology. Oxford: Oxford University Press; 1998.
Brothman AR, Schneider NR, Saikevych I, Cooley LD, Butler MG, Patil S, et al. Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Archives of pathology & laboratory medicine. 2006;130(7):947-9.
Carothers AD, Buckton KE, Collyer S, Mey Rd, Frackiewicz A, Piper J, et al. The effect of variant chromosomes on reproductive fitness in man. Clinical genetics. 1982;21(4):280-9. Disponible en: DOI: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.1982.tb00764.x
Gardner R, Sutherland G. Variant chromosomes and abnormalities of no phenotypic consequence. In: Gardner R, Sutherland G, Shaffer L, editors. Chromosome abnormalities and genetic counseling. Oxford: Oxford University Press; 2012. p. 259.
Sullivan AE, Silver RM, La Coursiere DY, Porter TF, Branch DW. Recurrent fetal aneuploidy and recurrent miscarriage. Obstetrics & Gynecology [Internet]. 2004 [citado 30/11/2018];104(4):784-8. Disponible en: https://journals.lww.com/greenjournal/Fulltext/2004/10000/Recurrent_Fetal_Aneuploidy_and_Recurrent.23.aspx
Dong Y, Li L, Wang R, Yu X, Yun X, Liu R. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms. Genet Mol Res. 2014;13(2):2849-56.
Azim M, Khan A, Khilji Z, Pal J, Khurshid M. Chromosomal abnormalities as a cause of recurrent abortions: a hospital experience. Journal of Pakistan Medical Association. 2003;53:117.
Ward B, Henry G, Robinson A. Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Am Journal of human genetics [Internet]. 1980 [citado 30/11/2018];32(4):549. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686134/
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: case-control study. BMJ. 2006;332(7544):759-63.
Flynn H, Yan J, Saravelos SH, Li TC. Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. Journal of Obstetrics and Gynaecology Research. 2014;40(1):109-16. Disponible en: DOI: https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/jog.12133
Foyouzi N, Cedars MI, Huddleston HG. Cost-effectiveness of cytogenetic evaluation of products of conception in the patient with a second pregnancy loss. Fertility and sterility [Internet]. 2012 [citado 30/11/2018];98(1):151-5. e3. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0015028212004384
Bernardi LA, Plunkett BA, Stephenson MD. Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation. Fertility and sterility. 2012;98(1):156-61.
Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. Journal of Obstetrics and Gynaecology Research. 2013;39(1):113-20. Disponible en: DOI: https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/j.1447-0756.2012.01905.x
Ramasamy R, Scovell JM, Kovac JR, Cook PJ, Lamb DJ, Lipshultz LI. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertility and sterility [Internet]. 2015 [citado 30/11/2018];103(4):906-9. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S001502821500076X
Ramasamy R, Besada S, Lamb DJ. Fluorescent in situ hybridization of human sperm: diagnostics, indications, and therapeutic implications. Fertility and sterility. 2014;102(6):1534-9.
Karaer A, Karaer K, Ozaksit G, Ceylaner S, Percin EF. Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss. American journal of obstetrics and gynecology [Internet]. 2008 [citado 30/11/2018];199(6):662. e1-. e5. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0002937808006236
Frikha R, Frikha T, Bouayed N, Rebai T. Assessment of male factor involved in recurrent pregnancy loss: A preliminary study. Middle East Fertility Society Journal. 2018;23(3):238-40.
Farahmand K, Kalantari H, Fakhri M, Fazeli AS, Moradi SZ, Almadani N, et al. Evaluation of 1100 couples with recurrent pregnancy loss using conventional cytogenetic, PGD, and PGS: hype or hope. Gynecological Endocrinology. 2016;32(6):483-7. Disponible en: DOI: https://www.tandfonline.com/doi/abs/10.3109/09513590.2015.1134476
Hill JA, Polgar K, Harlow BL, Anderson DJ. Evidence of embryo-and trophoblast-toxic cellular immune response (s) in women with recurrent spontaneous abortion. Am Journal of obstetrics and gynecology. 1992;166(4):1044-52.
Clifford K, Rai R, Watson H, Regan L. Pregnancy: An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. Human reproduction [Internet]. 1994 [citado 30/11/2018];9(7):1328-32. Disponible en: https://academic.oup.com/humrep/article-abstract/9/7/1328/746499
Daya S, Stephenson MD. Frequency of factors associated with habitual abortion in 197 couples. Fertility and sterility [Internet]. 1996 [citado 30/11/2018];66(1):24-9. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0015028216583824
Coccia ME, Rizzello F, Capezzuoli T, Spitaleri M, Riviello C. Recurrent pregnancy losses and gestational age are closely related: an observational cohort study on 759 pregnancy losses. Reproductive Sciences [Internet]. 2015 [citado 30/11/2018];22(5):556-62. Disponible en: https://link.springer.com/article/10.1177/1933719114553063
Feichtinger M, Reiner A, Hartmann B, Philipp T. Embryoscopy and karyotype findings of repeated miscarriages in recurrent pregnancy loss and spontaneous pregnancy loss. Journal of assisted reproduction and genetics [Internet]. 2018 [citado 30/11/2018];35(8):1401-6. Disponible en: https://link.springer.com/article/10.1007/s10815-018-1226-1
Eskenazi B, Wyrobek AJ, Sloter E, Kidd S, Moore L, Young S, et al. The association of age and semen quality in healthy men. Human Reproduction. 2003;18(2):447-54.
Nikitina TV, Sazhenova EA, Tolmacheva EN, Sukhanova NN, Kashevarova AA, Skryabin NA, et al. Comparative cytogenetic analysis of spontaneous abortions in recurrent and sporadic pregnancy losses. Biomedicine Hub [Internet]. 2016 [citado 30/11/2018];1(1):1-11. Disponible en: https://www.karger.com/Article/Abstract/446099
Grande M, Borrell A, Garcia-Posada R, Borobio V, Munoz M, Creus M, et al. The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage. Human reproduction. 2012;27(10):3109-17.
Priya PK, Mishra VV, Roy P, Patel H. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. Journal of human reproductive sciences [Internet]. 2018 [citado 30/11/2018];11(4):337. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333030/
Khalife D, Ghazeeri G, Kutteh W, editors. Review of current guidelines for recurrent pregnancy loss: new strategies for optimal evaluation of women who may be superfertile. Seminars in perinatology. España: Elsevier; 2018.