Investigating Uptake and Impact of Genetic and Genomic Evaluation Following a Perinatal Demise
Despite public health efforts to mitigate stillbirth and neonatal death over the 20th and 21st centuries, the rate of decline in perinatal death has plateaued. Genetic etiologies, especially those implicated in undiagnosed causes of perinatal death, are thought to contribute to this trend. Ample literature has investigated the diagnostic yield of genetic testing in the case of stillbirth and neonatal demise. However, little research has explored the frequency of involvement of trained genetics specialists, such as medical geneticists and genetic counselors, in perinatal death cases from prenatal ascertainment of anomalies to demise. The current study examined retrospective demographic and clinical data from 111 perinatal demise cases and their gestational parents associated with attendance and uptake of prenatal genetic counseling, post-delivery genetics consult, genetic/genomic testing, and autopsy investigation at a large university-affiliated medical center between November 1st, 2017, and December 1st, 2021. Furthermore, this study investigated the potential diagnostic yield of genetic testing in the presence and absence of genetics specialist involvement providing evaluation and testing recommendations. Finally, this study appraised the degree of patient education in genetic post-counseling documented by genetics specialists versus non-genetics specialists. Through univariate analysis, genetic specialist involvement in perinatal cases was found to be associated with significant increases in genetic testing uptake , abnormal genetic testing results (positive results and results of uncertain significance that have a potential to contribute to disease), and increased degree of documentation of patient education outcomes through genetic post-test counseling compared to those services rendered by non-genetics providers. The findings of this study underscore the importance of active integration of genetics healthcare professionals into the process of perinatal postmortem investigation and allocating the practice of genetics evaluation and genetic testing selection to healthcare professionals with relevant genetics training.