Gestational, perinatal and family findings of patients with Patau syndrome

Detalhes bibliográficos
Autor(a) principal: Rosa,Rafael Fabiano M.
Data de Publicação: 2013
Outros Autores: Sarmento,Melina Vaz, Polli,Janaina Borges, Groff,Daniela de Paoli, Petry,Patrícia, Mattos,Vinícius Freitas de, Rosa,Rosana Cardoso M., Trevisan,Patrícia, Zen,Paulo Ricardo G.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista Paulista de Pediatria (Ed. Português. Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822013000400459
Resumo: OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.
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spelling Gestational, perinatal and family findings of patients with Patau syndromechromosomes, human, pair 13chromosome aberrationsinfant, prematureApgar scoreprenatal diagnosisprognosis OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients. Sociedade de Pediatria de São Paulo2013-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822013000400459Revista Paulista de Pediatria v.31 n.4 2013reponame:Revista Paulista de Pediatria (Ed. Português. Online)instname:Sociedade de Pediatria de São Paulo (SPSP)instacron:SPSP10.1590/S0103-05822013000400007info:eu-repo/semantics/openAccessRosa,Rafael Fabiano M.Sarmento,Melina VazPolli,Janaina BorgesGroff,Daniela de PaoliPetry,PatríciaMattos,Vinícius Freitas deRosa,Rosana Cardoso M.Trevisan,PatríciaZen,Paulo Ricardo G.eng2015-07-31T00:00:00Zoai:scielo:S0103-05822013000400459Revistahttps://www.rpped.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.phppediatria@spsp.org.br||rpp@spsp.org.br1984-04620103-0582opendoar:2015-07-31T00:00Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)false
dc.title.none.fl_str_mv Gestational, perinatal and family findings of patients with Patau syndrome
title Gestational, perinatal and family findings of patients with Patau syndrome
spellingShingle Gestational, perinatal and family findings of patients with Patau syndrome
Rosa,Rafael Fabiano M.
chromosomes, human, pair 13
chromosome aberrations
infant, premature
Apgar score
prenatal diagnosis
prognosis
title_short Gestational, perinatal and family findings of patients with Patau syndrome
title_full Gestational, perinatal and family findings of patients with Patau syndrome
title_fullStr Gestational, perinatal and family findings of patients with Patau syndrome
title_full_unstemmed Gestational, perinatal and family findings of patients with Patau syndrome
title_sort Gestational, perinatal and family findings of patients with Patau syndrome
author Rosa,Rafael Fabiano M.
author_facet Rosa,Rafael Fabiano M.
Sarmento,Melina Vaz
Polli,Janaina Borges
Groff,Daniela de Paoli
Petry,Patrícia
Mattos,Vinícius Freitas de
Rosa,Rosana Cardoso M.
Trevisan,Patrícia
Zen,Paulo Ricardo G.
author_role author
author2 Sarmento,Melina Vaz
Polli,Janaina Borges
Groff,Daniela de Paoli
Petry,Patrícia
Mattos,Vinícius Freitas de
Rosa,Rosana Cardoso M.
Trevisan,Patrícia
Zen,Paulo Ricardo G.
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Rosa,Rafael Fabiano M.
Sarmento,Melina Vaz
Polli,Janaina Borges
Groff,Daniela de Paoli
Petry,Patrícia
Mattos,Vinícius Freitas de
Rosa,Rosana Cardoso M.
Trevisan,Patrícia
Zen,Paulo Ricardo G.
dc.subject.por.fl_str_mv chromosomes, human, pair 13
chromosome aberrations
infant, premature
Apgar score
prenatal diagnosis
prognosis
topic chromosomes, human, pair 13
chromosome aberrations
infant, premature
Apgar score
prenatal diagnosis
prognosis
description OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.
publishDate 2013
dc.date.none.fl_str_mv 2013-12-01
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=S0103-05822013000400459
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822013000400459
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0103-05822013000400007
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 Sociedade de Pediatria de São Paulo
publisher.none.fl_str_mv Sociedade de Pediatria de São Paulo
dc.source.none.fl_str_mv Revista Paulista de Pediatria v.31 n.4 2013
reponame:Revista Paulista de Pediatria (Ed. Português. Online)
instname:Sociedade de Pediatria de São Paulo (SPSP)
instacron:SPSP
instname_str Sociedade de Pediatria de São Paulo (SPSP)
instacron_str SPSP
institution SPSP
reponame_str Revista Paulista de Pediatria (Ed. Português. Online)
collection Revista Paulista de Pediatria (Ed. Português. Online)
repository.name.fl_str_mv Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)
repository.mail.fl_str_mv pediatria@spsp.org.br||rpp@spsp.org.br
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