Os Factores Genéticos na Perda Gestacional
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/1338 |
Resumo: | Pregnancy loss is the most common obstetric complication. Multiple factors have been associated with recurrent or sporadic pregnancy loss, and genetic factors, particularly at earlier gestational ages, are the most important ones. The proportion of miscarriages due to chromosomal factors decreases with increasing gestational age. The most common chromosomal abnormalities in early losses are autosomal trisomies, monosomy X and polyploidy. In later losses, aneuploidies are similar to those found in live newborns (trisomies 21,18 and 13, X monosomy and polysomy of sex chromosomes. In cases of recurrent miscarriage the most common cytogenetic changes are trisomies, polyploidy, monosomy X and unbalanced translocations. Identification of the causes of pregnancy loss facilitates the families’ grief and may indicate if there is the risk of repetition, in order to reduce recurrence. The investigation recommended in each case is far from consensual, and the cost/benefit analysis of diagnostic exams is essential. The determination of the karyotype of the products of conception is indicated in cases of fetal loss and recurrent miscarriage, while the parental karyotypes should be performed only in selected cases. Couples with identified genetic conditions should be counseled about reproductive options, including prenatal or pre-implantation diagnosis. Surveillance of a future pregnancy should be multidisciplinary and adjusted in each case. The cytogenetic factors, due to their high prevalence and complexity, have a fundamental, but still not completely clear, role in pregnancy loss. |
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Os Factores Genéticos na Perda GestacionalGenetic Factors in Pregnancy LossGenéticaFenómenos GenéticosPerda Recidivante do FetoMorte FetalAborto EspontâneoPregnancy loss is the most common obstetric complication. Multiple factors have been associated with recurrent or sporadic pregnancy loss, and genetic factors, particularly at earlier gestational ages, are the most important ones. The proportion of miscarriages due to chromosomal factors decreases with increasing gestational age. The most common chromosomal abnormalities in early losses are autosomal trisomies, monosomy X and polyploidy. In later losses, aneuploidies are similar to those found in live newborns (trisomies 21,18 and 13, X monosomy and polysomy of sex chromosomes. In cases of recurrent miscarriage the most common cytogenetic changes are trisomies, polyploidy, monosomy X and unbalanced translocations. Identification of the causes of pregnancy loss facilitates the families’ grief and may indicate if there is the risk of repetition, in order to reduce recurrence. The investigation recommended in each case is far from consensual, and the cost/benefit analysis of diagnostic exams is essential. The determination of the karyotype of the products of conception is indicated in cases of fetal loss and recurrent miscarriage, while the parental karyotypes should be performed only in selected cases. Couples with identified genetic conditions should be counseled about reproductive options, including prenatal or pre-implantation diagnosis. Surveillance of a future pregnancy should be multidisciplinary and adjusted in each case. The cytogenetic factors, due to their high prevalence and complexity, have a fundamental, but still not completely clear, role in pregnancy loss.Sociedades Portuguesas de Obstetrícia e GinecologiaRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEFrancisco, CMendes, NLima, AMartins, LSerrano, F2013-06-27T11:06:53Z20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/1338porActa Obstet Ginecol Port 2013;7(1):42-48info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:31:03Zoai:repositorio.chlc.min-saude.pt:10400.17/1338Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:18:51.604867Repositório 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 |
Os Factores Genéticos na Perda Gestacional Genetic Factors in Pregnancy Loss |
title |
Os Factores Genéticos na Perda Gestacional |
spellingShingle |
Os Factores Genéticos na Perda Gestacional Francisco, C Genética Fenómenos Genéticos Perda Recidivante do Feto Morte Fetal Aborto Espontâneo |
title_short |
Os Factores Genéticos na Perda Gestacional |
title_full |
Os Factores Genéticos na Perda Gestacional |
title_fullStr |
Os Factores Genéticos na Perda Gestacional |
title_full_unstemmed |
Os Factores Genéticos na Perda Gestacional |
title_sort |
Os Factores Genéticos na Perda Gestacional |
author |
Francisco, C |
author_facet |
Francisco, C Mendes, N Lima, A Martins, L Serrano, F |
author_role |
author |
author2 |
Mendes, N Lima, A Martins, L Serrano, F |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Francisco, C Mendes, N Lima, A Martins, L Serrano, F |
dc.subject.por.fl_str_mv |
Genética Fenómenos Genéticos Perda Recidivante do Feto Morte Fetal Aborto Espontâneo |
topic |
Genética Fenómenos Genéticos Perda Recidivante do Feto Morte Fetal Aborto Espontâneo |
description |
Pregnancy loss is the most common obstetric complication. Multiple factors have been associated with recurrent or sporadic pregnancy loss, and genetic factors, particularly at earlier gestational ages, are the most important ones. The proportion of miscarriages due to chromosomal factors decreases with increasing gestational age. The most common chromosomal abnormalities in early losses are autosomal trisomies, monosomy X and polyploidy. In later losses, aneuploidies are similar to those found in live newborns (trisomies 21,18 and 13, X monosomy and polysomy of sex chromosomes. In cases of recurrent miscarriage the most common cytogenetic changes are trisomies, polyploidy, monosomy X and unbalanced translocations. Identification of the causes of pregnancy loss facilitates the families’ grief and may indicate if there is the risk of repetition, in order to reduce recurrence. The investigation recommended in each case is far from consensual, and the cost/benefit analysis of diagnostic exams is essential. The determination of the karyotype of the products of conception is indicated in cases of fetal loss and recurrent miscarriage, while the parental karyotypes should be performed only in selected cases. Couples with identified genetic conditions should be counseled about reproductive options, including prenatal or pre-implantation diagnosis. Surveillance of a future pregnancy should be multidisciplinary and adjusted in each case. The cytogenetic factors, due to their high prevalence and complexity, have a fundamental, but still not completely clear, role in pregnancy loss. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-06-27T11:06:53Z 2013 2013-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/1338 |
url |
http://hdl.handle.net/10400.17/1338 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Acta Obstet Ginecol Port 2013;7(1):42-48 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedades Portuguesas de Obstetrícia e Ginecologia |
publisher.none.fl_str_mv |
Sociedades Portuguesas de Obstetrícia e Ginecologia |
dc.source.none.fl_str_mv |
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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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799131286193831936 |