title: Evaluation of a protocol for postmortem examination of stillbirths and neonatal deaths with congenital anomalies.
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.
authors.affiliation: Disciplina de Embriologia, Departamento de Morfologia, Universidade Federal de São Paulo--Escola Paulista de Medicina, Rua Botucatu, 740--Edifício Leitão da Cunha, 2 degrees andar, São Paulo--SP, Brazil sCEP--04023-900, mcernach.morf@epm.br
authors.forename: Mirlene C S P
authors.initials: MC
authors.lastname: Cernach
authors.forename: Francy R S
authors.initials: FR
authors.lastname: Patrício
authors.forename: Marcial F
authors.initials: MF
authors.lastname: Galera
authors.forename: Antonio F
authors.initials: AF
authors.lastname: Moron
authors.forename: Decio
authors.initials: D
authors.lastname: Brunoni
mesh_terms: D001344:Autopsy; D002423:Cause of Death; D002869:Chromosome Aberrations; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011256:Pregnancy Outcome