Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil

Detalhes bibliográficos
Autor(a) principal: Denardin,Daniela
Data de Publicação: 2015
Outros Autores: Savaris,Fabíola Elizabete, Cunha,André Campos da, Betat,Rosilene da Silveira, Telles,Jorge Alberto Bianchi, Targa,Luciano Vieira, Weiss,Aline, Zen,Paulo Ricardo Gazzola, Rosa,Rafael Fabiano Machado
Tipo de documento: Artigo
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400320
Resumo: CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.
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spelling Retrospective cohort of trisomy 18 (Edwards syndrome) in southern BrazilTrisomyChromosomes, human, pair 18KaryotypePrenatal diagnosisSurvival analysisCONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.Associação Paulista de Medicina - APM2015-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400320Sao Paulo Medical Journal v.133 n.4 2015reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/1516-3180.2013.79900715info:eu-repo/semantics/openAccessDenardin,DanielaSavaris,Fabíola ElizabeteCunha,André Campos daBetat,Rosilene da SilveiraTelles,Jorge Alberto BianchiTarga,Luciano VieiraWeiss,AlineZen,Paulo Ricardo GazzolaRosa,Rafael Fabiano Machadoeng2015-10-23T00:00:00Zoai:scielo:S1516-31802015000400320Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2015-10-23T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
title Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
spellingShingle Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
Denardin,Daniela
Trisomy
Chromosomes, human, pair 18
Karyotype
Prenatal diagnosis
Survival analysis
title_short Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
title_full Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
title_fullStr Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
title_full_unstemmed Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
title_sort Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
author Denardin,Daniela
author_facet Denardin,Daniela
Savaris,Fabíola Elizabete
Cunha,André Campos da
Betat,Rosilene da Silveira
Telles,Jorge Alberto Bianchi
Targa,Luciano Vieira
Weiss,Aline
Zen,Paulo Ricardo Gazzola
Rosa,Rafael Fabiano Machado
author_role author
author2 Savaris,Fabíola Elizabete
Cunha,André Campos da
Betat,Rosilene da Silveira
Telles,Jorge Alberto Bianchi
Targa,Luciano Vieira
Weiss,Aline
Zen,Paulo Ricardo Gazzola
Rosa,Rafael Fabiano Machado
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Denardin,Daniela
Savaris,Fabíola Elizabete
Cunha,André Campos da
Betat,Rosilene da Silveira
Telles,Jorge Alberto Bianchi
Targa,Luciano Vieira
Weiss,Aline
Zen,Paulo Ricardo Gazzola
Rosa,Rafael Fabiano Machado
dc.subject.por.fl_str_mv Trisomy
Chromosomes, human, pair 18
Karyotype
Prenatal diagnosis
Survival analysis
topic Trisomy
Chromosomes, human, pair 18
Karyotype
Prenatal diagnosis
Survival analysis
description CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.
publishDate 2015
dc.date.none.fl_str_mv 2015-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400320
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400320
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1516-3180.2013.79900715
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv Sao Paulo Medical Journal v.133 n.4 2015
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
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