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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\u2010symptomatic diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first\u2010tier screen measured creatine kinase\u2010MM (CK\u2010MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK\u2010MM were referred for genetic counseling and genetic testing. The latter included deletion\/duplication analysis and next\u2010generation sequencing (NGS) of the <jats:italic>DMD<\/jats:italic> gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the <jats:italic>DMD<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the two\u2010year pilot study, 36,781 newborns were screened with CK\u2010MM. Forty\u2010two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the <jats:italic>DMD<\/jats:italic> gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51829","type":"journal-article","created":{"date-parts":[[2023,6,25]],"date-time":"2023-06-25T00:13:57Z","timestamp":1687652037000},"page":"1383-1396","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Newborn screening for Duchenne muscular dystrophy: A two\u2010year pilot study"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7758-820X","authenticated-orcid":false,"given":"Norma P.","family":"Tavakoli","sequence":"first","affiliation":[{"name":"Division of Genetics Wadsworth Center, New York State Department of Health  Albany New York USA"},{"name":"Department of Biomedical Sciences State University of New York  Albany New York 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