Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era.

Zettler, Bethany; Estrella, Elicia; Liaquat, Khalida; Lichten, Lauren

Zettler, Bethany; Estrella, Elicia; Liaquat, Khalida; Lichten, Lauren.

Afiliação

Zettler B; Genetic Counseling, Brandeis University Graduate School of Arts and Sciences, Waltham, Massachusetts, USA.
Estrella E; Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Liaquat K; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Lichten L; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts, USA.

J Genet Couns ; 31(3): 803-814, 2022 06.

Article em En | MEDLINE | ID: mdl-35037741

Assuntos

Aconselhamento Genético; Atrofia Muscular Espinal; Feminino; Humanos; Recém-Nascido; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética; Atrofia Muscular Espinal/terapia; Triagem Neonatal; Gravidez; Diagnóstico Pré-Natal; Estudos Prospectivos

Palavras-chave

carrier testing; genetic counseling; neurogenetics; newborn screening; spinal muscular atrophy; treatment

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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