Challenges and Pitfalls in Diagnosing Twins With Discordant <scp>BWS</scp> Phenotype
Accurately diagnosing Beckwith-Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.
Authors
- Germana Viscogliosi (ORCID: https://orcid.org/0000-0002-1697-6337)
- Maria Grazia Pomponi (ORCID: https://orcid.org/0000-0002-0417-9939)
- Maurizio Genuardi (ORCID: https://orcid.org/0000-0002-7410-8351)
- Pietro Chiurazzi (ORCID: https://orcid.org/0000-0001-5104-1521)
- Iacopo Bellani (ORCID: https://orcid.org/0009-0004-3833-2454)
- Valentina Trevisan (ORCID: https://orcid.org/0000-0002-9566-4971)
- Giuseppe Zampino (ORCID: https://orcid.org/0000-0002-2661-4831)
- Alessandro Mussa (ORCID: https://orcid.org/0000-0003-2795-6013)
- Chiara Leoni (ORCID: https://orcid.org/0000-0002-4089-637X)
Institutions
- Agostino Gemelli University Polyclinic (IT)
- Ospedale Regina Margherita (IT)
- University of Milano-Bicocca (IT)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-07-18
- DOI
- https://doi.org/10.1111/cge.70022
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00