Utility of Prenatal Screening and Diagnostic Testing for Skeletal Dysplasias
Our findings highlight the crucial role of diagnostic molecular testing in accurately diagnosing suspected skeletal dysplasia, determining recurrence risk, and providing family guidance.
Authors
- Myla Ashfaq (ORCID: https://orcid.org/0000-0002-0502-5659)
- Blair Stevens (ORCID: https://orcid.org/0000-0003-0568-8054)
- Kestutis Micke (ORCID: https://orcid.org/0000-0002-7513-3591)
- Aranza Gonzalez Cendejas
- Jimmy Espinoza (ORCID: https://orcid.org/0000-0002-9830-2212)
- A. Wittman
- Nicolette Murphey
Institutions
- Children's Hospital Colorado (US)
- The University of Texas Health Science Center (US)
- University of Colorado Anschutz Medical Campus (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Fetal Diagnosis and Therapy
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1159/000548470
- Primary Topic
- Digestive system and related health
- Type
- article
- Field-Weighted Citation Impact
- 0.00