P579: Multidimensional utility of genomic autopsy for infant mortality
Genomic autopsy, or the application of genome-wide sequencing such as exome or genome sequencing (ES or GS) for postmortem diagnosis, has high diagnostic yield for fetal loss. However, incorporation of a genomic autopsy into the investigation of infant deaths is infrequent. This is due to lack of awareness of the diagnostic potential and clinical impact, in addition to financial and other logistical barriers. Consequently, the genomic landscape of infant mortality remains poorly understood, and many families are left without the answers a genomic autopsy could provide.
Authors
- Monica H. Wojcik (ORCID: https://orcid.org/0000-0002-8162-5031)
- Ingrid A. Holm (ORCID: https://orcid.org/0000-0003-4712-8821)
- Malika Sud (ORCID: https://orcid.org/0000-0001-9258-7029)
- Heidi L. Rehm (ORCID: https://orcid.org/0000-0002-6025-0015)
- Richard E. Goldstein (ORCID: https://orcid.org/0000-0002-3770-2191)
- Kathleen Garvey
- Ikeoluwa Osei‐Owusu (ORCID: https://orcid.org/0000-0002-1429-3532)
- Jill A. Madden (ORCID: https://orcid.org/0000-0002-7045-1232)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Pankaj B. Agrawal (ORCID: https://orcid.org/0000-0003-3255-0456)
- Anne O’Donnell‐Luria (ORCID: https://orcid.org/0000-0001-6418-9592)
- Casie A. Genetti (ORCID: https://orcid.org/0000-0003-4173-9947)
- Sundos Al-Husayni
- Nicole Groussis
Institutions
- Broad Institute (US)
- Boston Children's Hospital (US)
- Boston Children's Museum (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102427
- Primary Topic
- Autopsy Techniques and Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00