Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies

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dc.contributor.author Cernach, MCSP
dc.contributor.author Patricio, FRS
dc.contributor.author Galera, M. F.
dc.contributor.author Moron, A. F.
dc.contributor.author Brunoni, D.
dc.date.accessioned 2016-01-24T12:37:05Z
dc.date.available 2016-01-24T12:37:05Z
dc.date.issued 2004-04-01
dc.identifier http://dx.doi.org/10.1007/s10024-001-0211-2
dc.identifier.citation Pediatric and Developmental Pathology. New York: Springer, v. 7, n. 4, p. 335-341, 2004.
dc.identifier.issn 1093-5266
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/27692
dc.description.abstract A study was conducted on 75 perinatal deaths with congenital anomalies through clinical, radiographic, cytogenetic, and autopsy evaluation, and the diagnoses of 72 patients (96%) were determined. in 11 patients with chromosomal anomalies, the cytogenetic study was sufficient to determine the diagnosis and the reproductive risk. in these cases, the value of the autopsy results resided above all in the description of the clinical variability. Radiographic evaluation was the best method to establish a diagnosis of skeletal dysplasias (14.7%). Furthermore, the X-rays showed small skeletal defects which are difficult to see on dissection. the clinical genetic evaluation with a detailed description of the phenotype and anthropometric exam, performed by a clinical geneticist, and the autopsy with gross and microscopic evaluation, facilitated the diagnoses of 50 cases (66.7%). We concluded that, in perinatal death with congenital anomalies, the teamwork of clinical geneticists and fetal pathologists increases the probability of determining the etiological diagnosis. This is essential to define the parents' reproductive risk, thus contributing to primary prevention of congenital anomalies. en
dc.format.extent 335-341
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartof Pediatric and Developmental Pathology
dc.rights Acesso restrito
dc.title Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies en
dc.type Artigo
dc.rights.license http://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Embriol, BR-04023900 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Dept Anat Patol, Setor Patol Pediat, BR-04023900 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, BR-04020041 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, Disciplina Med Fetal, BR-04024002 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Embriol, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Dept Anat Patol, Setor Patol Pediat, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, BR-04020041 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, Disciplina Med Fetal, BR-04024002 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Dept Morfol, Discipline Genet, BR-04023900 São Paulo, Brazil
dc.identifier.doi 10.1007/s10024-001-0211-2
dc.description.source Web of Science
dc.identifier.wos WOS:000223532300004



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