Uptake and Impact of Genetic and Genomic Testing and Clinical Evaluation Following a Perinatal Demise in an Academic Center
Prenatal Genetics
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Primary Categories:
- Clinical- Pediatric
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Secondary Categories:
- Clinical- Pediatric
Introduction:
Despite major advancements in perinatal care, the rate of decline of perinatal demise is slowing. In many cases, the cause of perinatal demise is unexplained, though many of these unexplained cases are thought to have genetic underpinnings. Though significant research has been done regarding diagnostic yield and genetic causes of demise, little is known about how genetic specialist involvement impacts the outcomes of these cases. Therefore the goal of this study was to characterize the practice of post-mortem genetic testing at a single center and begin to investigate the effects of geneticist involvement.
Methods:
This IRB approved study examines retrospective demographic and clinical data from 111 perinatal demise cases with special focus on the involvement of Genetics specialists including physicians and counselors at a large university-affiliated medical center between November 1st, 2017, and December 1st, 2021. Elective and therapeutic abortions were not included in the analysis.
Results:
Of the 111 cases examined, 54% received genetic testing and 25% received a genetics consult. Overall diagnostic yield for those that were tested was 21%. Genetic specialist involvement in perinatal cases was found to be associated with significant increases in genetic testing uptake (p=0.007), abnormal genetic testing results (p<0.001), and increased degree of documentation of patient education outcomes through genetic post-test counseling (p<0.001) compared to those services rendered by non-genetics providers. Second trimester stillbirths and those with fewer ultrasound abnormalities were notably less likely to receive genetic testing (both p <0.001), less likely to receive genetics consult (p<0.001, p=0.020), and less likely to receive a diagnostic result (p = 0.261, p=0.016).
Conclusion:
Possibly in part due to the rapid evolution of genetic data use in medicine, guidance on when to perform genetic testing, what genetic testing to perform, and when to involve a geneticist may not always be clear. We hypothesized that Geneticist involvement may alleviate some of these uncertainties. Though it was not possible to avoid ascertainment bias in this retrospective study, we concluded that geneticist involvement correlates with a higher rate of testing, higher diagnostic yield, and more thorough counseling for families. These findings underscore the importance of integrating Geneticist providers into perinatal postmortem healthcare teams in order to provide answers for families and recurrence risk for future pregnancies.
Despite major advancements in perinatal care, the rate of decline of perinatal demise is slowing. In many cases, the cause of perinatal demise is unexplained, though many of these unexplained cases are thought to have genetic underpinnings. Though significant research has been done regarding diagnostic yield and genetic causes of demise, little is known about how genetic specialist involvement impacts the outcomes of these cases. Therefore the goal of this study was to characterize the practice of post-mortem genetic testing at a single center and begin to investigate the effects of geneticist involvement.
Methods:
This IRB approved study examines retrospective demographic and clinical data from 111 perinatal demise cases with special focus on the involvement of Genetics specialists including physicians and counselors at a large university-affiliated medical center between November 1st, 2017, and December 1st, 2021. Elective and therapeutic abortions were not included in the analysis.
Results:
Of the 111 cases examined, 54% received genetic testing and 25% received a genetics consult. Overall diagnostic yield for those that were tested was 21%. Genetic specialist involvement in perinatal cases was found to be associated with significant increases in genetic testing uptake (p=0.007), abnormal genetic testing results (p<0.001), and increased degree of documentation of patient education outcomes through genetic post-test counseling (p<0.001) compared to those services rendered by non-genetics providers. Second trimester stillbirths and those with fewer ultrasound abnormalities were notably less likely to receive genetic testing (both p <0.001), less likely to receive genetics consult (p<0.001, p=0.020), and less likely to receive a diagnostic result (p = 0.261, p=0.016).
Conclusion:
Possibly in part due to the rapid evolution of genetic data use in medicine, guidance on when to perform genetic testing, what genetic testing to perform, and when to involve a geneticist may not always be clear. We hypothesized that Geneticist involvement may alleviate some of these uncertainties. Though it was not possible to avoid ascertainment bias in this retrospective study, we concluded that geneticist involvement correlates with a higher rate of testing, higher diagnostic yield, and more thorough counseling for families. These findings underscore the importance of integrating Geneticist providers into perinatal postmortem healthcare teams in order to provide answers for families and recurrence risk for future pregnancies.