An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.

Rudd, Ignatius; Gill, Gulvir; Buckley, Michael; Downie, Lilian

Rudd, Ignatius; Gill, Gulvir; Buckley, Michael; Downie, Lilian.

Afiliação

Rudd I; Department of Perinatal Medicine, Mercy Hospital for Women, Melbourne, Victoria, Australia.
Gill G; Genetics in the North East, Mercy Hospital for Women, Melbourne, Victoria, Australia.
Buckley M; Randwick Genomics Laboratory, NSW Health Pathology, Newcastle, New South Wales, Australia.
Downie L; Genetics in the North East, Mercy Hospital for Women, Melbourne, Victoria, Australia.

Am J Med Genet A ; 191(12): 2856-2859, 2023 12.

Article em En | MEDLINE | ID: mdl-37578328

Assuntos

Catarata; Epilepsias Mioclônicas; Gravidez; Feminino; Humanos; Sequenciamento do Exoma; Achados Incidentais; Diagnóstico Pré-Natal; Epilepsias Mioclônicas/genética

Palavras-chave

SCN1a mutation; congenital cataracts; incidental findings; prenatal exome sequencing; secondary findings

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Epilepsias Mioclônicas Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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