Artículos de revistas
Subfertility Phenotype, Chromosome Polymorphismand Conception Failures [fenótipo De Subfertilidade, Polimorfismos Cromossômicos E Falhas De Concepção]
Registro en:
Revista Brasileira De Ginecologia E Obstetricia. , v. 33, n. 5, p. 246 - 251, 2011.
1007203
2-s2.0-80051908550
Autor
de Lourdes Campanhol C.
Heinrich J.K.
Couto E.
Barini R.
Institución
Resumen
Purpose: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. Methods: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. Results: approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. Conclusions: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants. 33 5 246 251 Malpas, P., A study of abortion sequences (1938) BJOG, 45 (6), pp. 932-949 ACOG practice bulletin. Management of recurrent pregnancy loss (2002) Int J Gynaecol Obstet, 78 (2), pp. 179-190. , American College of Obstetricians and Gynecologists, Number 24, February 2001. (Replaces Technical Bulletin Number 212, September 1995). American College of Obstetricians and Gynecologists Jauniaux, E., Farquharson, R.G., Christiansen, O.B., Exalto, N., Evidence-based guidelines for the investigation and medical treatment of recurrent miscarriage (2006) Hum Reprod, 21 (9), pp. 2216-2222 (2003) The Investigation and Treatment of Couples With Recurrent Miscarriage, , Royal College of Obstetricians and Gynaecologists (RCOG), London: RCOG (2007) Guideline: Recurrent Miscarriage, , Dutch Society of Obstetrics and Gynaecology (NVOG), Utrecht: NVOG van den Boogaard, E., Kaandorp, S.P., Franssen, M.T.M., Mol, B.W.J., Leschot, N.J., Wouters, C.H., Consecutive or non-consecutive recurrent miscarriage: Is there any difference in carrier status? (2010) Hum Reprod, 25 (6), pp. 1411-1414 Laurino, M.Y., Bennett, R.L., Saraiya, D.S., Baumeister, L., Doyle, D.L., Leppig, K., Genetic evaluation and counseling of couples with recurrent miscarriage: Recommendations of the National Society of Genetic Counselors (2005) J Genet Couns, 14 (3), pp. 165-181 Yuce, H., Tekedereli, I., Elyas, H., Cytogenetic results of recurrent spontaneous abortion in Turkey (2007) Med Sci Monit, 13 (6), pp. CR286-CR289 Horne, A.W., Alexander, C.I., Recurrent miscarriage (2005) J Fam Plann Reprod Health Care, 31 (2), pp. 103-107 Caetano, M.R., Couto, E., Passini, R., Simoni, R.Z., Barini, R., Gestational prognostic factors in women with recurrent spontaneous abortion (2006) São Paulo Med J, 124 (4), pp. 181-185 Kiss, A., Rosa, R.F.M., Dibi, R.P., Zen, P.R.G., Pfeil, J.N., Graziadio, C., Anormalidades cromossômicas em casais com história de aborto recorrente (2009) Rev Bras Ginecol Obstet, 31 (2), pp. 68-74 Defnitions of infertility and recurrent pregnancy loss (2008) Fertil Steril, 90 (5 SUPPL.), pp. S60. , Practice Committee of the American Society for Reproductive Medicine Gnoth, C., Godehardt, E., Frank-Herrmann, P., Friol, K., Tigges, J., Freundl, G., Defnition and prevalence of subfertility and infertility (2005) Hum Reprod, 20 (5), pp. 1144-1147 Srebniak, M., Wawrzkiewicz, A., Wiczkowski, A., Kaźmierczak, W., Olejek, A., Subfertile couple with inv(2),inv(9) and 16qh+ (2004) J Appl Genet, 45 (4), pp. 477-479 Silva, A.E., Migliori, I.K., Jorge, Y.C., Santos, J.R., Casais com abortamento espontâneo recorrente: Participação das translocações cromossômicas (2007) Arq Ciênc Saúde, 14 (4), pp. 211-215 Collodel, G., Moretti, E., Capitani, S., Piomboni, P., Anichini, C., Estenoz, M., TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9 (2006) Andrologia, 38 (4), pp. 122-127 Minocherhomji, S., Athalye, A.S., Madon, P.F., Kulkarni, D., Uttamchandani, S.A., Parikh, F.R., A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype (2009) Ferti Steril, 92 (1), pp. 88-95 Mikhaail-Philips, M.M., Ko, E., Chernos, J., Greene, C., Rademaker, A., Martin, R.H., Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect (2004) Am J Med Genet A, 127 A (2), pp. 139-143 Lejeune, J., Autosomal disorders (1963) Pediatrics, 32 (3), pp. 326-337 Colls, P., Blanco, J., Martínez-Pasarell, O., Vidal, F., Egozcue, J., Márquez, C., Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fuorescence in situ hybridization on sperm nuclei (1997) Hum Genet, 99 (6), pp. 761-765 Anton, E., Vidal, F., Egozcue, J., Blanco, J., Genetic reproductive risk in inversion carriers (2006) Fertil Steril, 85 (3), pp. 661-666 Ait-Allah, A.S., Ming, P.M.L., Salem, H.T., Reece, E.A., The clinical importance of pericentric inversion of chromosome 9 in prenatal diagnosis (1997) J Matern Fetal Invest, 7 (3), pp. 126-128 Shaffer, L.G., Slovak, M.L., Campbell, L.J., (2009) An International System For Human Cytogenetic Nomenclature, , Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger Genetic aspects of female reproduction (2008) Hum Reprod Update, 14 (4), pp. 293-307. , ESHRE Capri Workshop Group Celep, F., Karagüzel, A., Ozeren, M., Bozkaya, H., The frequency of chromosomal abnormalities in patients with reproductive failure (2006) Eur J Obstet Gynecol Reprod Biol, 127 (1), pp. 106-109 Ramesh, K.H., Verma, R.S., Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions (1996) J Med Genet, 33 (5), pp. 395-398 Bricarelli, F.D., Hastings, R.J., Kristofferson, U., Cavani, S., (2009) Cytogenetic Guidelines and Quality Assurance - a Common European Framework For Quality Assessment For Constitutional and Acquired Cytogentic Investigations, , http://www.eurogentest.org/web/fles/public/unit1/ceqa/NL17z7Guidelines%20v1.2.pdf/, ECA European Cytogeneticists Association, Internet, cited 2009 Jun 29 Brothman, A.R., Schneider, N.R., Saikevych, I., Cooley, L.D., Butler, M.G., Patil, S., Mascarello, J.T., Vance, G.H., (2006) Cytogenetic Heteromorphisms: Survey Results and Reporting Practices of Giemsa-band Regions That We Have Pondered For Years, 130 (7), pp. 947-949. , Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics Borovik, C.L., Tajara, E.H., Rocha, J.C., Farah, L.M.S., Naccache, N.F., Mingroni Netto, R.C., Guia De Boas Práticas Laboratoriais Em Citogenética E Genética Molecular Humana [Internet] (2009), http://www.liagiraldo.pro.br/enfoques/arquivos/boasPraticasOGM.pdf, citado 2009 Jun 29