Artikel ; Online: Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption.
International journal of neonatal screening
2021 Band 7, Heft 4
Abstract: Duchenne muscular dystrophy (DMD) is not currently part of mandatory newborn screening, despite the availability of a test since 1975. In the absence of screening, a DMD diagnosis is often not established in patients until 3-6 years of age. During this ... ...
Abstract | Duchenne muscular dystrophy (DMD) is not currently part of mandatory newborn screening, despite the availability of a test since 1975. In the absence of screening, a DMD diagnosis is often not established in patients until 3-6 years of age. During this time, irreversible muscle degeneration takes place, and clinicians agree that the earlier therapy is initiated, the better the long-term outcome. With recent availability of FDA-approved DMD therapies, interest has renewed for adoption by state public health programs, but such implementation is a multiyear process. To speed access to approved therapies, we implemented a unique, hospital-based program offering parents of newborns an optional, supplemental DMD newborn screen (NBS) via a two-tiered approach: utilizing a creatine kinase (CK) enzyme assay coupled with rapid targeted next-generation sequencing (tNGS) for the |
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Sprache | Englisch |
Erscheinungsdatum | 2021-11-15 |
Erscheinungsland | Switzerland |
Dokumenttyp | Journal Article |
ISSN | 2409-515X |
ISSN (online) | 2409-515X |
DOI | 10.3390/ijns7040077 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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