The role of autopsy following pregnancy termination for fetal abnormality

OBJECTIVE: To review the frequency of autopsy following pregnancy termination for fetal anomaly and its contribution to subsequent counselling. METHODS: All medical pregnancy terminations for fetal anomaly performed after 14 weeks gestation from January 1997 to December 2006 were identified and the frequency of autopsy ascertained. The prenatal diagnosis prompting the termination was then compared with the autopsy data, and a diagnostic valuation was determined. The potential autopsy value ranged from no additional information provided, minor added value, significant added value, major added value to non-confirmation of the prenatal findings. RESULTS: During the ten-year study period, there were 1012 consecutive terminations for fetal abnormality. The principal indications for termination were: karyotypic (38.4%); neural tube defects (16.1%); cardiac (10.3%) and cerebral anomalies (7.5%). Autopsy was performed in 809 cases (79.9%). The autopsy rate progressively declined from 95.1% in 1997 to 67.5% in 2006 (P<0.001). Women declining autopsy were older (31 years (26,35) vs 32 years (27,37), P=0.005) and more likely to have a fetal chromosomal abnormality (30.6% vs 69.9%, P<0.001) (autopsy vs no-autopsy). In euploid cases, autopsy confirmed the prenatal diagnosis with no additional information in 63.5% (357 of 562). In 1.1% (six cases), autopsy added major diagnostic information, and in 15.1% (85 cases), significant information was provided. CONCLUSIONS: Although contemporary prenatal testing has improved the recognition of fetal abnormalities, autopsy remains a valued tool by providing diagnosis or clarification of some prenatal findings in 16% of cases. Fetal autopsy rates are declining and this trend may lead to a loss of diagnostic and recurrence risk-counselling information.     

Mort criminelle par arme blanche dans la région de Kairouan,Tunisie : Etude rétrospective 2008-2018

Introduction: Homicides by stabbing are the most common forensic form of criminal death in Tunisia. These homicides represent a type of violent death that requires investigation in a forensic setting. Aim: To describe the epidemiological and forensic profile of stab wounds in the region of Kairouan, Tunisia Methods: We conducted a retrospective study of stab-wounds autopsy cases collected at the Forensic Department at the Ibn El Jazzar University Hospital in Kairouan over eleven years (01/01/2008 to 31/12/2018). Results: Forty-seven cases of homicide were retained. A male predominance was observed with a sex ratio of 22 (45H/2F, 96%). The mean age of the victims was 33.3±10.84 with ages ranging from 12 to 63 years. Most victims (79%) were of rural origin, singles (62%), and daily-laborers (89%). The months that recorded the highest numbers of homicides were November and August. The most common reason for the assault was a settling-score on the street. The perpetrator was known by the victim in 90% of cases, having used a knife as a weapon in 90% of cases. The thorax was the most frequently affected area, resulting in fatal heart wounds in 28 cases. Conclusion: Autopsy remains an essential tool for drawing up a detailed injury assessment in homicides by stabbing and determining the injury mechanism of the wounds. The comparison of the autopsy findings with the data of the judicial investigation is of great help in the legal qualification of the facts and the determination of the responsibility of the aggressors.     

An anaplastic pleomorphic xanthoastrocytoma with periventricular extension: An autopsy case report and review of the literature

Pleomorphic xanthoastrocytomas (PXAs) are rare low-grade astrocytic tumors that typically present as superficial nodular cystic tumors of the cerebrum attached to the leptomeninx. Histologically, they are pleomorphic, hypercellular glial neoplasms. Despite the presence of microscopic pleomorphism, patients’ postoperative prognosis is generally good. Anaplastic PXAs (APXAs) have a high mitotic index and patients with APXAs have a worse prognosis than patients with PXAs. Here, we report an autopsy case of APXA initially diagnosed as PXA. After gross total resection, the tumor recurred and was diagnosed as an APXA; thereafter, the patient died. An autopsy revealed that the tumor had relapsed at the primary site and had spread to the leptomeningeal space while concurrently invading the cerebrum including the periventricular area forming multifocal lesions. The histological findings of the autopsy were similar to those for epithelioid glioblastoma (EGBM) and small cell glioblastoma (SCGBM). In particular, the periventricular area with multifocal lesions was composed of SCGBM-like cells. It has been shown that multifocal lesions are frequently identified in patients with SCGBM. This is the first histopathologically confirmed case of APXA-related tumor presenting with periventricular extension and multifocal lesion formation. The periventricular extension might be a feature of PXAs and APXAs. However, suspected periventricular spread on imaging in past cases of PXAs and APXAs might instead represent the malignant transformation of these tumors to glioblastoma-like high-grade tumors, which often show SCGBM-like histological patterns.     

尸体胸椎黄韧带骨化的病理观察

研究兴柱黄韧带骨化的病理特征。方法：随机选择２１具尸体胸椎标本，矢状剖开１８具，冠状剖开３具，观察每一节段黄韧带病理学特征，对骨化标本进行病理学研究。结果；２１具标本中，９具５９节段骨化，其中增生骨化４具，２３节段占３９％，单纯骨化７具，累积３６节段，病理表现呈３层结构。     

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA. Two stillborn sibling fetuses with arthrogryposis, pterygia, and amyoplasia had compound heterozygous pathogenic variants in NEB. A neonate with a histopathologic diagnosis of nemaline myopathy had a heterozygous de novo pathogenic variant in ACTA1. Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. These cases demonstrate the utility of whole genome sequencing as the principal diagnostic method of lethal forms of skeletal muscle disorders that present with arthrogryposis and muscle amyoplasia/hypoplasia. Molecular diagnosis provides an opportunity for studying patterns of inheritance and for family counseling concerning future pregnancies.

     

Cytopathological and immunocytochemical findings of pancreatic anaplastic carcinoma with ZEB1 expression by means of touch imprint cytology

Pancreatic anaplastic carcinoma (PAC) is rare and has an aggressive clinical course. We report an autopsy case of PAC focusing on the cytopathological characteristics of the tumor and immunocytochemical staining for vimentin, E‐cadherin, and zinc finger E‐box binding homeobox 1 (ZEB1), which markers are associated with epithelial markers of epithelial‐mesenchymal transition (EMT). A 50‐year‐old woman presented to our hospital with a chief complaint of jaundice. A pancreatic head tumor and multiple liver nodules were detected on abdominal computed tomography. Biliary cytology under endoscopic retrograde cholangiopancreatography suggested ductal adenocarcinoma. Three months after admission, she died of multiorgan failure. At autopsy, touch imprint cytology using squash preparation of the pancreatic tumor identified two different cell types; numerous isolated malignant cells with large and pleomorphic nuclei and a few clusters showing irregularly overlapped nuclei and irregular contours within the necrotic background. Immunocytochemically, isolated cells were positive for vimentin and ZEB1, and negative for E‐cadherin. Conversely, clusters were negative for vimentin and ZEB1, and positive for E‐cadherin. Histologically, the tumor was composed of sarcomatous cells with small foci of adenocarcinoma, which were consistent with a diagnosis of PAC. Immunohistochemical staining of the adenocarcinoma and sarcomatous cells corresponded to those of the clusters and isolated malignant cells, respectively. Immunostaining of these EMT markers is useful to distinguish sarcomatous cells from adenocarcinoma and can contribute to the accurate diagnosis of pancreatic tumors with EMT.     

Deaths among young, single women in 2000-2001 in the West Bank, Palestinian Occupied Territories

A study in 2000-2001 of causes of death of women of reproductive age (15-49) in the West Bank, Palestinian Occupied Territories, found that 154 of the 411 deceased women aged 15-49 with known marital status were single. Death notification forms for reported deaths were analysed and verbal autopsies carried out, where possible, with relatives of the deceased women. We found important differences in the age at death and causes of death among the single and married women, which can be attributed to the disadvantaged social status of single women in Palestinian society, exacerbated by the current unstable political situation. 41% of the deceased single women were under 25 years of age at death compared to 8% of the married women. The proportion of violent deaths and suicides among the single women was almost twice as high as among the married women, mainly in those below age 25. The single women were also more likely to die from medical conditions which indicated that they faced barriers to accessing health care. The fieldwork was conducted at the height of the Intifada and the Israeli military response, with heavy restrictions on mobility, limiting the possibility of probing deeper into the circumstances surrounding sensitive deaths. More research into the socio-cultural context of single women in Palestine society is needed as a basis for intervention.     

Community-based situation analysis of maternal and neonatal care in South Africa to explore factors that impact utilization of maternal health services

This community situational analysis determined factors impacting the utilization of maternal health services in South Africa. Quantitative and qualitative research methods were used, including semistructured household interviews, case studies of women with no antenatal care and/or home birth, and verbal/social autopsies of maternal and infant deaths, conducted in three diverse sites across the country. Data analysis used quantitative statistics for the semistructured interviews and a qualitative thematic content approach for the case studies and verbal/social autopsies. Each component was analyzed separately and then triangulated. The following themes emerged: 1) transport and distance to care were the biggest problems, particularly in rural areas; 2) providers' communication with families was very poor; 3) health-seeking behavior was better than anticipated; 4) treatment by health providers and quality of care showed mixed results; 5) HIV/AIDS is a major issue; however, basic maternity and neonatal service quality cannot be overlooked; and 6) families and communities are an untapped resource for improving maternal and neonatal health. Implications for maternal and infant health care in developing countries are discussed, with a particular focus on barriers to utilization and involvement of communities and families in maternity care.