Investigating Uptake and Impact of Genetic and Genomic Evaluation Following a Perinatal Demise

Abstract

ObjectiveThe decline of the perinatal demise rate is slowing and demises are often unexplained. Significant research has been done regarding diagnostic yield and genetic causes of demise, but little is known about how Geneticist involvement impacts outcomes. The goal of the study was to evaluate post-mortem genetic testing practices and effects of the geneticists involvement. MethodsRetrospective data from 111 perinatal demise cases was examined, including rates of prenatal genetic counseling, post-delivery genetics consult, genetic testing, and autopsy investigation. ResultsIn this cohort 54% received genetic testing and 25% received a genetics consultation. When compared to those without, cases with genetic specialist involvement were associated with significant increases in testing uptake (p=0.007), diagnostic yield (p<0.001), and patient education (p<0.001). Second trimester stillbirths and those with fewer ultrasound (US) abnormalities were less likely to receive genetic testing (both p values <0.001) and consults (p<0.001, p=0.020). ConclusionAlthough ascertainment bias cannot be ruled out, this data demonstrates that geneticist involvement correlates with a higher rate of testing, greater diagnostic yield, and more thorough counseling. These findings underscore the importance of integrating genetics providers into perinatal postmortem healthcare teams. What is already known about this topic?- Causes of perinatal demise often are undiagnosed, but genetic and congenital anomalies are common. - ACOG recommends genetic testing for all perinatal demises What does this study add?- Genetic testing is under-offered and should be offered more frequently. - Genetic specialist involvement is associated with increased patient education, genetic testing uptake, and diagnostic yield - Time and access to genetic specialists may drive testing rate - Non-English language may be associated with decreased consultation rate