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.

My approach to performing a perinatal or neonatal autopsy

“…diagnosis, obstetric and neonatal intensive care. 139 The cost of autopsy has a role in the diagnosis: 140 it is vital for teaching, training, research and epidemiology. If perinatal autopsy fails to fulfil these requirements, it will be replaced by imaging techniques, needle biopsies and verbal autopsy.…”

Care in pregnancies subsequent to stillbirth or perinatal death

“…A study of 1025 stillbirths in the Netherlands 36 found placental examination helped to determine the cause of death in 95%, post mortem examination provided cause of death information in 72% of cases and cytogenetics in 29% of cases. A post mortem following stillbirth provides new information that changes the diagnosis in between 9% and 34% of stillbirths, provides some additional information in 22% of stillbirths and confirms the clinical diagnosis in between 49% and 58% of stillbirths 37–40 . Histopathological examination of the placenta by a pathologist provides useful information in at least 50% of stillbirths and reduces the reporting of ‘unexplained’ stillbirth from 30% to 10% 34 .…”

Cause of intrauterine and neonatal death in twin pregnancies (CoDiT): development of a novel classification system

“…Pre-existing classification systems rely on clinical information, yet postmortems provide new information to change the diagnosis in 9-11%, and additional information in 22-76%. [16][17][18][19][20][21] However, pathological causes of twin demise remain unknown in 25%. Postmortem reports are not standardised and depend upon availability of local expertise in perinatal pathology and the quality of clinical information received.…”