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

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

Author Cernach, MCSP Google Scholar
Patricio, FRS Google Scholar
Galera, M. F. Google Scholar
Moron, A. F. Google Scholar
Brunoni, D. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
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.
Language English
Date 2004-04-01
Published in Pediatric and Developmental Pathology. New York: Springer, v. 7, n. 4, p. 335-341, 2004.
ISSN 1093-5266 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 335-341
Origin http://dx.doi.org/10.1007/s10024-001-0211-2
Access rights Closed access
Type Article
Web of Science ID WOS:000223532300004
URI http://repositorio.unifesp.br/handle/11600/27692

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