Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | por eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952 |
Resumo: | Introduction: Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.Material and Methods: Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.Results: Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.Discussion/Conclusion: The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique. |
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Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal DeathsEstudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes FetaisIntroduction: Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.Material and Methods: Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.Results: Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.Discussion/Conclusion: The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique.Introdução: O abortamento espontâneo é um dos problemas mais frequentes da gravidez, estimando-se que afete, pelo menos, 25% das mulheres que tentam engravidar. O objetivo principal deste trabalho foi o estudo da prevalência das anomalias cromossómicas em perdas gestacionais, analisando a sua relação com a idade materna, idade gestacional e história de abortamentos prévios.Material e Métodos: Realizou-se um estudo retrospetivo em 401 casos de perdas de gravidez que efetuaram análise citogenética e anátomo-patológica, entre janeiro de 2008 e junho de 2012, no Centro Hospitalar de S. João.Resultados: Dos 401 casos enviados para estudo citogenético foi possível obter informação sobre o complemento cromossómico em 333 casos, dos quais 72,7% apresentaram cariótipo normal e 27,3% cariótipo anormal. As aneuploidias representaram 92,3% das cromossomopatias identificadas, sendo as trissomias as mais frequentes, associadas a uma idade materna avançada e a uma idade gestacional precoce. Não se verificou concordância entre os resultados da análise anátomo-patológica e citogenética.Discussão e Conclusão: A prevalência de anomalias cromossómicas, no primeiro trimestre, foi semelhante entre os casos de abortamento esporádico e recorrente. Com o aumento da idade materna observou-se um aumento das trissomias, com um incremento médio de 7,4% no risco de ocorrência por ano. Não foi estabelecida uma correlação cariótipo-patológica significativa. A contaminação materna da amostra foi o principal entrave à determinação exata da prevalência de anomalias cromossómicas. As técnicas de citogenética molecular já disponíveis podem colmatar esta e outras limitações da técnica convencional.Ordem dos Médicos2014-01-08info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952oai:ojs.www.actamedicaportuguesa.com:article/3952Acta Médica Portuguesa; Vol. 27 No. 1 (2014): January-February; 42-48Acta Médica Portuguesa; Vol. 27 N.º 1 (2014): Janeiro-Fevereiro; 42-481646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporenghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952/3877https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952/3958Bastos, RaquelRamalho, CarlaDória, Sofiainfo:eu-repo/semantics/openAccess2022-12-20T11:03:09Zoai:ojs.www.actamedicaportuguesa.com:article/3952Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:18:39.780209Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths Estudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes Fetais |
title |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
spellingShingle |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths Bastos, Raquel |
title_short |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
title_full |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
title_fullStr |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
title_full_unstemmed |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
title_sort |
Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths |
author |
Bastos, Raquel |
author_facet |
Bastos, Raquel Ramalho, Carla Dória, Sofia |
author_role |
author |
author2 |
Ramalho, Carla Dória, Sofia |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Bastos, Raquel Ramalho, Carla Dória, Sofia |
description |
Introduction: Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.Material and Methods: Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.Results: Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.Discussion/Conclusion: The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique. |
publishDate |
2014 |
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2014-01-08 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952 oai:ojs.www.actamedicaportuguesa.com:article/3952 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952/3877 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3952/3958 |
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Ordem dos Médicos |
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Ordem dos Médicos |
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Acta Médica Portuguesa; Vol. 27 No. 1 (2014): January-February; 42-48 Acta Médica Portuguesa; Vol. 27 N.º 1 (2014): Janeiro-Fevereiro; 42-48 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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