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. Keywords: BWS phenotype; BWS surveillance; Beckwith–Wiedemann; Beckwith–Wiedemann spectrum; IC2 hypomethylation; discordant twin phenotype; imprinting; mosaicism; twinning.
Bellani, I., Trevisan, V., Viscogliosi, G., Pomponi, M., Chiurazzi, P., Mussa, A., Zampino, G., Genuardi, M., Leoni, C., Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype., <<CLINICAL GENETICS>>, 2025; 108 (5): 609-611. [doi:10.1111/cge.70022] [https://hdl.handle.net/10807/326486]
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.
Trevisan, Valentina;Viscogliosi, Germana;Chiurazzi, Pietro;Zampino, Giuseppe;Genuardi, Maurizio;
2025
Abstract
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. Keywords: BWS phenotype; BWS surveillance; Beckwith–Wiedemann; Beckwith–Wiedemann spectrum; IC2 hypomethylation; discordant twin phenotype; imprinting; mosaicism; twinning.
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