Gestational, perinatal and family findings of patients with Patau syndrome
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , , , , |
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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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 |
_version_ |
1750318248774074368 |