Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family

BACKGROUND: Screening for spinal muscular atrophy (SMA) is recommended for all pregnant women; however, interpreting the results of carrier screening in the context of family history can be challenging. CASE: We report the case of a 28-year-old woman (G4P3001) with two previous children affected wit...

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Detalles Bibliográficos
Autores principales: Lucas, Heather M., Sarumi, Mojirayo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718837/
https://www.ncbi.nlm.nih.gov/pubmed/35004188
http://dx.doi.org/10.1016/j.crwh.2021.e00377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718837/
https://www.ncbi.nlm.nih.gov/pubmed/35004188
http://dx.doi.org/10.1016/j.crwh.2021.e00377

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