Português
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Saúde (Santa Maria) |
Texto Completo: | https://periodicos.ufsm.br/revistasaude/article/view/71248 |
Resumo: | Patau and Edwards Syndromes are genetic conditions resulting primarily from trisomies involving chromosomes 13 and 18, respectively. These chromosomal disorders are severe, there are several concomitant malformations, the prognosis is usually poor, which can result in high rates of fetal and neonatal losses and early postnatal deaths. Thus, the present study aims to present information on survival and mortality in trisomies 13 and 18, including factors that interfere in these variables. This is a theoretical study, of the literature review type, carried out in the PubMed database using the following descriptors: trisomy 13 and trisomy 18 and survival and mortality. Articles published in the last 10 years, in the original article category and in Portuguese and English, were considered. In summary, the 24 studies revealed that there was a predominance of death, mainly in the first days of life, for both chromosomal anomalies. A higher survival was observed in individuals with mainly mosaic karyotypes and translocation, as well as female gender, higher birth weight, birth after 36 gestational weeks and those undergoing the intervention. Risk factors for early mortality were congenital anomalies, mainly heart defect and omphalocele, low or very low birth weight, gestational age/prematurity, and male gender. Knowledge of possible outcomes and complications in these conditions can help parents and multidisciplinary teams to make decisions related to the future management of these trisomies, aiming to reduce early mortality, increase survival and improve the quality of life of these patients. Trisomies 13 and 18 are associated with high mortality rates, low survival, and there are risk factors that affect these variables in neonates with these autosomal aneuploidies. |
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PortuguêsMortalidade, sobrevivência e fatores associados nas Trissomias 13 e 18: um estudo de revisãoSíndrome da Trissomia do Cromossomo 13Síndrome da Trissomia do Cromossomo 18MortalidadeSobrevivênciaPatau and Edwards Syndromes are genetic conditions resulting primarily from trisomies involving chromosomes 13 and 18, respectively. These chromosomal disorders are severe, there are several concomitant malformations, the prognosis is usually poor, which can result in high rates of fetal and neonatal losses and early postnatal deaths. Thus, the present study aims to present information on survival and mortality in trisomies 13 and 18, including factors that interfere in these variables. This is a theoretical study, of the literature review type, carried out in the PubMed database using the following descriptors: trisomy 13 and trisomy 18 and survival and mortality. Articles published in the last 10 years, in the original article category and in Portuguese and English, were considered. In summary, the 24 studies revealed that there was a predominance of death, mainly in the first days of life, for both chromosomal anomalies. A higher survival was observed in individuals with mainly mosaic karyotypes and translocation, as well as female gender, higher birth weight, birth after 36 gestational weeks and those undergoing the intervention. Risk factors for early mortality were congenital anomalies, mainly heart defect and omphalocele, low or very low birth weight, gestational age/prematurity, and male gender. Knowledge of possible outcomes and complications in these conditions can help parents and multidisciplinary teams to make decisions related to the future management of these trisomies, aiming to reduce early mortality, increase survival and improve the quality of life of these patients. Trisomies 13 and 18 are associated with high mortality rates, low survival, and there are risk factors that affect these variables in neonates with these autosomal aneuploidies.As Síndromes de Patau e Edwards são condições genéticas resultantes principalmente de trissomias envolvendo os cromossomos 13 e 18, respectivamente. Esses distúrbios cromossômicos são graves, há presença de diversas malformações concomitantes, o prognóstico normalmente é ruim o que pode resultar em altas taxas de perdas fetais, neonatais e óbitos pós-natal precoce. Deste modo, o presente estudo tem por finalidade apresentar informações sobre sobrevivência e mortalidade nas trissomias dos cromossomos 13 e 18, incluindo fatores que interferem nessas variáveis. Trata-se de um estudo teórico, do tipo revisão da literatura, realizado na base de dados PubMed utilizando os seguintes descritores: trisomy 13 and trisomy 18 and survival and mortality. Foram considerados os artigos publicados nos últimos 10 anos, da categoria artigo original e dos idiomas português e inglês. Em síntese, os 24 estudos revelaram que houve predomínio de morte principalmente nos primeiros dias de vida para ambas as anomalias cromossômicas. Uma maior sobrevivência foi observada em indivíduos com cariótipos mosaico, principalmente, e translocação, bem como gênero feminino, maior peso, nascimento após 36 semanas gestacionais e aqueles submetidos à intervenção. Os fatores de risco para mortalidade precoce foram anomalias congênitas, principalmente defeito cardíaco e onfalocele, baixo ou muito baixo peso ao nascimento, idade gestacional/prematuridade e gênero masculino. O conhecimento dos possíveis desfechos e complicações nessas condições pode auxiliar os pais e as equipes multidisciplinares na tomada de decisões relacionadas ao manejo futuro dessas trissomias, visando diminuir a mortalidade precoce, aumentar a sobrevida e melhorar a qualidade de vida desses pacientes. As trissomias 13 e 18 estão associadas a altas taxas de mortalidade, baixa sobrevida e há fatores de risco que afetam essas variáveis em neonatos com essas aneuploidias autossômicas.Universidade Federal de Santa Maria2023-04-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.ufsm.br/revistasaude/article/view/7124810.5902/2236583471248Saúde (Santa Maria); Revista Saúde (Santa Maria). 2022, v. 48, n. 1Saúde (Santa Maria); Revista Saúde (Santa Maria). 2022, v. 48, n. 12236-58340103-4499reponame:Saúde (Santa Maria)instname:Universidade Federal de Santa Maria (UFSM)instacron:UFSMporhttps://periodicos.ufsm.br/revistasaude/article/view/71248/52341Copyright (c) 2023 Aparecida Fernanda de Lima Bispo da Silva , Alessandra Bernadete Trovó de Marquiinfo:eu-repo/semantics/openAccessde Lima Bispo da Silva , Aparecida Fernanda Trovó de Marqui, Alessandra Bernadete2023-04-06T14:00:51Zoai:ojs.pkp.sfu.ca:article/71248Revistahttps://periodicos.ufsm.br/revistasaudePUBhttps://periodicos.ufsm.br/revistasaude/oairevistasaude.ufsm@gmail.com || amanda.revsaude@gmail.com || beatriz.revsaude@gmail.com2236-58342236-5834opendoar:2023-04-06T14:00:51Saúde (Santa Maria) - Universidade Federal de Santa Maria (UFSM)false |
dc.title.none.fl_str_mv |
Português Mortalidade, sobrevivência e fatores associados nas Trissomias 13 e 18: um estudo de revisão |
title |
Português |
spellingShingle |
Português de Lima Bispo da Silva , Aparecida Fernanda Síndrome da Trissomia do Cromossomo 13 Síndrome da Trissomia do Cromossomo 18 Mortalidade Sobrevivência |
title_short |
Português |
title_full |
Português |
title_fullStr |
Português |
title_full_unstemmed |
Português |
title_sort |
Português |
author |
de Lima Bispo da Silva , Aparecida Fernanda |
author_facet |
de Lima Bispo da Silva , Aparecida Fernanda Trovó de Marqui, Alessandra Bernadete |
author_role |
author |
author2 |
Trovó de Marqui, Alessandra Bernadete |
author2_role |
author |
dc.contributor.author.fl_str_mv |
de Lima Bispo da Silva , Aparecida Fernanda Trovó de Marqui, Alessandra Bernadete |
dc.subject.por.fl_str_mv |
Síndrome da Trissomia do Cromossomo 13 Síndrome da Trissomia do Cromossomo 18 Mortalidade Sobrevivência |
topic |
Síndrome da Trissomia do Cromossomo 13 Síndrome da Trissomia do Cromossomo 18 Mortalidade Sobrevivência |
description |
Patau and Edwards Syndromes are genetic conditions resulting primarily from trisomies involving chromosomes 13 and 18, respectively. These chromosomal disorders are severe, there are several concomitant malformations, the prognosis is usually poor, which can result in high rates of fetal and neonatal losses and early postnatal deaths. Thus, the present study aims to present information on survival and mortality in trisomies 13 and 18, including factors that interfere in these variables. This is a theoretical study, of the literature review type, carried out in the PubMed database using the following descriptors: trisomy 13 and trisomy 18 and survival and mortality. Articles published in the last 10 years, in the original article category and in Portuguese and English, were considered. In summary, the 24 studies revealed that there was a predominance of death, mainly in the first days of life, for both chromosomal anomalies. A higher survival was observed in individuals with mainly mosaic karyotypes and translocation, as well as female gender, higher birth weight, birth after 36 gestational weeks and those undergoing the intervention. Risk factors for early mortality were congenital anomalies, mainly heart defect and omphalocele, low or very low birth weight, gestational age/prematurity, and male gender. Knowledge of possible outcomes and complications in these conditions can help parents and multidisciplinary teams to make decisions related to the future management of these trisomies, aiming to reduce early mortality, increase survival and improve the quality of life of these patients. Trisomies 13 and 18 are associated with high mortality rates, low survival, and there are risk factors that affect these variables in neonates with these autosomal aneuploidies. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-04-06 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.ufsm.br/revistasaude/article/view/71248 10.5902/2236583471248 |
url |
https://periodicos.ufsm.br/revistasaude/article/view/71248 |
identifier_str_mv |
10.5902/2236583471248 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://periodicos.ufsm.br/revistasaude/article/view/71248/52341 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Federal de Santa Maria |
publisher.none.fl_str_mv |
Universidade Federal de Santa Maria |
dc.source.none.fl_str_mv |
Saúde (Santa Maria); Revista Saúde (Santa Maria). 2022, v. 48, n. 1 Saúde (Santa Maria); Revista Saúde (Santa Maria). 2022, v. 48, n. 1 2236-5834 0103-4499 reponame:Saúde (Santa Maria) instname:Universidade Federal de Santa Maria (UFSM) instacron:UFSM |
instname_str |
Universidade Federal de Santa Maria (UFSM) |
instacron_str |
UFSM |
institution |
UFSM |
reponame_str |
Saúde (Santa Maria) |
collection |
Saúde (Santa Maria) |
repository.name.fl_str_mv |
Saúde (Santa Maria) - Universidade Federal de Santa Maria (UFSM) |
repository.mail.fl_str_mv |
revistasaude.ufsm@gmail.com || amanda.revsaude@gmail.com || beatriz.revsaude@gmail.com |
_version_ |
1799944002754052096 |