Mode
Text Size
Log in / Sign up

Geneticist involvement correlates with higher testing uptake and diagnostic yield in perinatal demise casesGeneticist Involvement Linked to Better Outcomes in Perinatal Demise Cases

AI-generated summary of the cited source, checked by automated accuracy review. How we work

Key Takeaway
Note that geneticist involvement correlates with higher testing uptake and diagnostic yield in perinatal demise cases.

This cohort study analyzed 111 perinatal demise cases to evaluate the impact of geneticist involvement. The primary outcomes assessed included testing uptake, diagnostic yield, and patient education. The comparator group consisted of cases without geneticist involvement. Ascertainment bias was identified as a key limitation in this observational design.

Results indicated that geneticist involvement correlated with significant increases in testing uptake, where 54% of cases received genetic testing (p=0.007). Diagnostic yield and patient education also showed significant increases (p<0.001) in cases with geneticist involvement. However, the likelihood of receiving genetic testing was decreased for cases involving second trimester stillbirths and those with fewer ultrasound abnormalities (p<0.001). Similarly, receipt of a genetics consult was less likely in cases with second trimester stillbirths (p<0.001) and fewer ultrasound abnormalities (p=0.020).

Safety and tolerability data were not reported for this study. The authors note that ascertainment bias may influence the results. Despite these limitations, the practice relevance underscores the importance of integrating genetics providers into perinatal postmortem healthcare teams. The study does not establish causality, as geneticist involvement correlates with outcomes rather than causing them.

This research looked at 111 cases of perinatal demise to see how involving a geneticist affected healthcare outcomes. The team compared cases where a geneticist was involved against those without such involvement. They found that when a geneticist was part of the team, there were significant increases in genetic testing uptake, diagnostic yield, and patient education. Additionally, the likelihood of receiving genetic testing or a genetics consult for cases with second-trimester stillbirths or fewer ultrasound abnormalities was lower, suggesting more appropriate care. No safety concerns were reported in this study.

However, the study has a limitation: ascertainment bias. This means the results might be influenced by how the data was collected rather than just the intervention itself. Because of this, the findings show a link between geneticist involvement and better outcomes, but they do not prove that the involvement directly caused these improvements.

Readers should understand that this underscores the importance of integrating genetics providers into perinatal postmortem healthcare teams. While the results are promising, the evidence is limited by the study design. Patients and families should discuss these findings with their healthcare providers to understand how genetic services might fit into their specific care plans.

What this means for you:
Geneticist involvement linked to better outcomes in perinatal demise cases, though study has limitations.

Study Details

Study typeCohort
EvidenceLevel 3
PublishedApr 2026
View Original Abstract ↓
Objective The 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. Methods Retrospective data from 111 perinatal demise cases was examined, including rates of prenatal genetic counseling, post-delivery genetics consult, genetic testing, and autopsy investigation. Results In this cohort 54% received genetic testing and 25% received a genetics consult. 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). Conclusion Though it was not possible to avoid ascertainment bias, 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.
Free Newsletter

Clinical research that matters. Delivered to your inbox.

Join thousands of clinicians and researchers. No spam, unsubscribe anytime.