Ontology highlight
ABSTRACT: Objective
Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis.Methods
At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first-tier screen measured creatine kinase-MM (CK-MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK-MM were referred for genetic counseling and genetic testing. The latter included deletion/duplication analysis and next-generation sequencing (NGS) of the DMD gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the DMD gene.Results
In the two-year pilot study, 36,781 newborns were screened with CK-MM. Forty-two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the DMD gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified.Interpretation
This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.
SUBMITTER: Tavakoli NP
PROVIDER: S-EPMC10424650 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Tavakoli Norma P NP Gruber Dorota D Armstrong Niki N Chung Wendy K WK Maloney Breanne B Park Sunju S Wynn Julia J Koval-Burt Carrie C Verdade Lorraine L Tegay David H DH Cohen Lilian L LL Shapiro Natasha N Kennedy Annie A Noritz Garey G Ciafaloni Emma E Weinberger Barry B Ellington Marty M Schleien Charles C Spinazzola Regina R Sood Sunil S Brower Amy A Lloyd-Puryear Michele M Caggana Michele M
Annals of clinical and translational neurology 20230623 8
<h4>Objective</h4>Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis.<h4>Methods</h4>At participating hospitals, newborns were recruited to the pi ...[more]