The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.
СтатьяНазвание и аннотация: Перевод в очереди
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Gallagher Emily R, Chow Penny, Mills Maria R, Perry Hazel, Tam Allison C, Rosenbluth Glenn, Gutierrez Yvonne R, Shamshoni Jessica Kianmahd, Matthews Marisa, Schweitzer Daniela N, Hing Anne
Аннотация
ObjectiveTo develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions.DesignAn online collaborative consisting of online meetings, independent work, and feedback across groups. Setting/Participants: A collaborative of genetics and pediatrics providers from three regional craniofacial centers (four institutions).MethodsCollaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback.ResultsThe collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis.ConclusionsTimely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.