Differences in Postmortem Investigation Following Perinatal Death

Objective The study aimed to describe the postmortem investigation patterns for perinatal deaths and compare the degree of investigation between stillbirths and early neonatal deaths. Study Design We conducted a single-center retrospective review of all perinatal deaths from 2011 to 2017. Perinatal death was defined as intrauterine fetal death at ≥20 weeks' gestation, plus neonatal deaths within the first 7 days of life. Rates of postmortem investigation were compared. Results There were 97 perinatal deaths, with 54 stillbirths (56%) and 43 neonatal deaths (44%). Stillbirths were significantly more likely to receive autopsy (p = 0.013) and postmortem genetic testing (p = 0.0004) when compared with neonatal deaths. Maternal testing was also more likely in stillbirths than neonatal deaths. A total of 32 deaths (33%) had no postmortem evaluation beyond placental pathology. Conclusion Investigation following perinatal death is more likely in stillbirths than neonatal deaths. Methods to improve postmortem investigation following perinatal death are needed, particularly for neonatal deaths. Key Points

Cardiac hypertrophy at autopsy

Since cardiac hypertrophy may be considered a cause of death at autopsy, its assessment requires a uniform approach. Common terminology and methodology to measure the heart weight, size, and thickness as well as a systematic use of cut off values for normality by age, gender, and body weight and height are needed. For these reasons, recommendations have been written on behalf of the Association for European Cardiovascular Pathology. The diagnostic work up implies the search for pressure and volume overload conditions, compensatory hypertrophy, storage and infiltrative disorders, and cardiomyopathies. Although some gross morphologic features can point to a specific diagnosis, systematic histologic analysis, followed by possible immunostaining and transmission electron microscopy, is essential for a final diagnosis. If the autopsy is carried out in a general or forensic pathology service without expertise in cardiovascular pathology, the entire heart (or pictures) together with mapped histologic slides should be sent for a second opinion to a pathologist with such an expertise. Indication for postmortem genetic testing should be integrated into the multidisciplinary management of sudden cardiac death.

Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

ABSTRACTPurposeThorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.MethodsA survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in healthcare professionals’ ability, and attitudes towards postmortem genetic testing practices.ResultsThere were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities.ConclusionPostmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.

Genetic Counselors’ Approach To Postmortem Genetic Testing After Sudden Death

A significant portion of sudden death cases result from an underlying genetic etiology, which may be determined through postmortem genetic testing. The National Association of Medical Examiners (NAME) recommends that an appropriate postmortem sample is saved on all sudden death cases under the age of 40. Genetic counselors (GCs) play an important role in this process by working with medical examiners and coroners (ME/Cs) to recommend and interpret specific testing and to guide family members. A survey sent to the National Society of Genetic Counselors was designed and implemented to learn more about the experiences of genetic counselors who had considered or ordered postmortem genetic testing. Results showed that cardiovascular GCs were significantly more willing to recommend genetic testing in younger age decedents (ages 10, 18, 30, 40, and 50) compared to other specialty GCs ( p<0.05, Chi-square). Thirty-seven percent (7 of 19) of GCs reported insurance covering some portion of genetic testing. Participants also reported highest success for DNA extractions with fresh and frozen blood, reinforcing NAME recommendations for appropriate sample collection for postmortem genetic testing. Overall, participating GCs demonstrated a very good understanding for the appropriate use of postmortem genetic testing and did identify suspected barriers of cost and lack of insurance coverage as deterrents. With the rapid decrease in costs for diagnostic genetic testing, ME/C awareness of NAME recommendations for sample collection and storage remain important to facilitate postmortem genetic testing.

Postmortem genetic testing in sudden death cases

Postmortem analysis of young sudden cardiac death patients leads to a diagnosis of structural cardiac disease in the majority of cases. However, despite thorough autopsy, including toxicological and histological analysis, in one-third of patients no cause of death is identified and these patients are classified as sudden unexplained death or sudden arrhythmic death syndrome. Postmortem genetic testing in these patients can establish a genetic aetiology of sudden cardiac death, which allows for appropriate screening and management of family members at risk of sudden cardiac death.