P182: Clinical validation of droplet digital polymerase chain reaction (ddPCR) for SMN1 and SMN2 copy number determination in newborn screening
Conclusion:We report a large cohort of fetuses and patients with prenatal and neonatal-onset R-HCM.We contribute to the stratification of genotypes into risk categories, to delineate high-risk genotypes of R-HCM progression in infancy.We established a stratification of postnatal prognostic and prenatal findings, making it possible to identify early high-risk patients for rapid and potentially life-threatening R-HCM.
Authors
- Rajesh Sharma (ORCID: https://orcid.org/0000-0003-3581-1332)
- Sudhir Sharma (ORCID: https://orcid.org/0000-0002-3898-3618)
- L. Shih (ORCID: https://orcid.org/0000-0002-2933-3306)
- Wu Li (ORCID: https://orcid.org/0000-0001-7102-4630)
- Cindy H. Wu (ORCID: https://orcid.org/0000-0001-8758-013X)
- Lauren M. Tom
Institutions
- California Department of Public Health (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102147
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00