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The impact of HBB‐related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening

OBJECTIVE: We evaluated whether there is an association between β‐globin (HBB) pathogenic variants and fetal fraction (FF), and whether the association has a clinically relevant impact on non‐invasive prenatal screening (NIPS). METHOD: A whole‐genome sequencing NIPS laboratory database was retrospec...

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Detalles Bibliográficos
Autores principales:	Putra, Manesha, Kaseniit, Kristjan Eerik, Hicks, Melissa A., Muzzey, Dale, Hackney, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311838/ https://www.ncbi.nlm.nih.gov/pubmed/35224763 http://dx.doi.org/10.1002/pd.6127

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