Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy
We highlight the utility of the HPO terms in standardizing phenotypic descriptions and improving the diagnosis of genetic syndromes in the first trimester. Although each disorder has different and non-specific affected organ systems, there is a tendency for some organs to be more frequently affected in some conditions. Agenesis of ductus venosus arises as a potential finding in the first trimester for RASopathies.
Authors
- Fiona Blanco‐Kelly (ORCID: https://orcid.org/0000-0003-0052-5651)
- Saoud Tahsin Swafiri (ORCID: https://orcid.org/0000-0003-3684-9076)
- Carolina Sánchez Jimeno
- Miguel Álvaro Navidad (ORCID: https://orcid.org/0000-0003-4228-1579)
- Marta Rodríguez de Alba Freiría
- Almudena Fernández (ORCID: https://orcid.org/0000-0002-4983-5362)
- Carmen Ayuso (ORCID: https://orcid.org/0000-0002-9242-7065)
- Fermina López Grondona
- Isabel Lorda‐Sánchez
- María José Trujillo‐Tiebas
- Ana Isabel Sánchez Barbero
- Elena Salgado Barbado
- Javier Plaza
- Andreea‐Manuela Mirea
Institutions
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-03-12
- DOI
- https://doi.org/10.1002/pd.70108
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00