Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies
In cases of fetal anomalies with genetic etiologies identified on ES, commercial gene panels had variable diagnostic yields. Panels performed worst for multisystem anomalies.
Authors
- Matthew A. Shear (ORCID: https://orcid.org/0000-0003-4134-5665)
- Billie Rachael Lianoglou (ORCID: https://orcid.org/0000-0002-2661-6642)
- Mary A. Norton
- Kate Swanson
- Nuriye N. Sahin‐Hodoglugil
- Teresa N. Sparks
Institutions
- Intermountain Healthcare (US)
- University of California, San Francisco (US)
- Society for Maternal-Fetal Medicine (US)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-03-12
- DOI
- https://doi.org/10.1002/pd.70118
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00