{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T15:12:29Z","timestamp":1785424349369,"version":"3.56.0"},"reference-count":41,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Parent Project Muscular Dystrophy, PerkinElmer, Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network\u2019s data tools played a key role in describing the NBS pilot findings and engaging stakeholders.<\/jats:p>","DOI":"10.3390\/ijns8040050","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T21:10:05Z","timestamp":1663881005000},"page":"50","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot"],"prefix":"10.3390","volume":"8","author":[{"given":"Michael J.","family":"Hartnett","sequence":"first","affiliation":[{"name":"American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5813-7064","authenticated-orcid":false,"given":"Michele A.","family":"Lloyd-Puryear","sequence":"additional","affiliation":[{"name":"American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7758-820X","authenticated-orcid":false,"given":"Norma P.","family":"Tavakoli","sequence":"additional","affiliation":[{"name":"Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie L.","family":"Koval-Burt","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Gruber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cohen Children\u2019s Medical Center, Northwell Health, New Hyde Park, NY 11040, USA"},{"name":"Departments of Pediatrics and Cardiology, Donald and Barbara Zucker School of Medicine at Hofstra\/Northwell, Hempstead, NY 11549, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Trotter","sequence":"additional","affiliation":[{"name":"American Academy of Pediatrics, Itasca, IL 60143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Caggana","sequence":"additional","affiliation":[{"name":"Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Parent Project Muscular Dystrophy, Washington, DC 20005, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6621-1247","authenticated-orcid":false,"given":"Amy M.","family":"Brower","sequence":"additional","affiliation":[{"name":"American College of Medical Genetics and Genomics (ACMG), Bethesda, MD 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.ejpn.2004.01.009","article-title":"Developmental progress in Duchenne muscular dystrophy: Lessons for earlier detection","volume":"8","author":"Parsons","year":"2004","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1089\/humc.2019.29049.int","article-title":"Breakthrough to Bedside: Bringing Gene Therapy to Neuromuscular Diseases","volume":"30","author":"Wilson","year":"2019","journal-title":"Hum. Gene Ther. Clin. Dev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ana.23528","article-title":"Evidence based path to newborn screening for Duchenne muscular dystrophy","volume":"71","author":"Mendell","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/mus.23810","article-title":"Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy","volume":"48","author":"Mendell","year":"2013","journal-title":"Muscle Nerve"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Al-Zaidy, S.A., Lloyd-Puryear, M., Kennedy, A., Lopez, V., and Mendell, J.R. (2017). A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy. Int. J. Neonatal Screen., 3.","DOI":"10.3390\/ijns3020008"},{"key":"ref_6","unstructured":"(2022, July 25). Project Parent Muscular Dystrophy Duchenne Drug Development Pipeline. Available online: https:\/\/www.parentprojectmd.org\/duchenne-drug-development-pipeline\/."},{"key":"ref_7","unstructured":"(2022, January 18). Advisory Committee on Heritable Disorders in Newborns and Children, Available online: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/index.html."},{"key":"ref_8","unstructured":"(2022, January 18). Advisory Committee on Heritable Disorders in Newborns and Children: Nominating a Condition, Available online: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/rusp\/nominate.html#:~:text=Conditions%20for%20consideration%20by%20the,for%20inclusion%20on%20the%20RUSP."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S1084-2756(98)80146-2","article-title":"Newborn screening for Duchenne muscular dystrophy","volume":"3","author":"Bradley","year":"1998","journal-title":"Semin. Neonatol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1001\/jamaneurol.2015.3537","article-title":"Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review","volume":"73","author":"Gatheridge","year":"2016","journal-title":"JAMA Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1038\/s41436-018-0334-8","article-title":"Foundation of the Newborn Screening Translational Research Network and its tools for research","volume":"21","author":"Brower","year":"2019","journal-title":"Genet. Med."},{"key":"ref_12","unstructured":"(2021, October 22). New York State Health Profiles, Available online: https:\/\/profiles.health.ny.gov\/measures\/all_state\/16511."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Wynn, J., Tavakoli, N.P., Armstrong, N., Gomez, J., Koval, C., Lai, C., Tang, S., Quevedo Prince, A., Quevedo, Y., and Rufino, K. (2022). Improving recruitment for a newborn screening pilot study with adaptations in response to the COVID-19 pandemic. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8020023"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Timonen, A., Lloyd-Puryear, M., Hougaard, D.M., Meri\u00f6, L., M\u00e4kinen, P., Laitala, V., P\u00f6l\u00f6nen, T., Skogstrand, K., Kennedy, A., and Airenne, S. (2019). Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP Neonatal Creatine Kinase-MM Kit in a US and Danish Population. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030027"},{"key":"ref_15","unstructured":"(2021, December 02). Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) Data Resources Reports. Available online: https:\/\/www.newsteps.org\/data-resources\/reports\/screening-methodologies-and-targets-report."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.27533","article-title":"Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy","volume":"65","author":"Park","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1002\/pd.5716","article-title":"Telehealth to provide prenatal genetics services: Feasibility and importance revealed during global pandemic","volume":"40","author":"Vora","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_18","unstructured":"American College of Medical Genetics and Genomics (2021, January 27). ACT Sheets and Algorithms. Available online: https:\/\/www.acmg.net\/ACMG\/Medical-Genetics-Practice-Resources\/ACT_Sheets_and_Algorithms.aspx."},{"key":"ref_19","unstructured":"American College of Medical Genetics and Genomics (2022, May 22). Pathogenic Variant in Dystrophin (DMD Gene) and Elevated Creatine Kinase Muscle Isoform (CK-MM) Duchenne and Becker Muscular Dystrophy. Available online: https:\/\/www.acmg.net\/PDFLibrary\/DMD_Pathogenic_Variants.pdf."},{"key":"ref_20","unstructured":"American College of Medical Genetics and Genomics (2022, May 22). Elevated Creatine Kinase Muscle Isoform (CK-MM) Genetic Neuromuscular Disease. Available online: https:\/\/www.acmg.net\/PDFLibrary\/DMD_CKMM.pdf."},{"key":"ref_21","unstructured":"American College of Medical Genetics and Genomics (2022, May 22). No Pathogenic Variant in Dystrophin (DMD) Gene after Elevated Creatine Kinase Muscle Isoform (CK-MM) Genetic Neuromuscular Disease. Available online: https:\/\/www.acmg.net\/PDFLibrary\/DMD_No_pathogenic_Variant.pdf."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.nmd.2018.04.005","article-title":"Female dystrophinopathy: Review of current literature","volume":"28","author":"Ishizaki","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_23","first-page":"3035","article-title":"Clinical and genetic characteristics of female dystrophinopathy carriers","volume":"19","author":"Zhong","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ijcard.2020.05.052","article-title":"Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing","volume":"316","author":"Mah","year":"2020","journal-title":"Int. J. Cardiol."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Lloyd-Puryear, M.A., Crawford, T.O., Brower, A., Stephenson, K., Trotter, T., Goldman, E., Goldenberg, A., Howell, R.R., Kennedy, A., and Watson, M. (2018). Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4010006"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Brower, A., Chan, K., Hartnett, M., and Taylor, J. (2021). The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts. Int. J. Neonatal Screen., 7.","DOI":"10.20944\/preprints202106.0043.v1"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)\u2014A metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J. Biomed. Inform."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Harris, P.A., Taylor, R., Minor, B.L., Elliott, V., Fernandez, M., O\u2019Neal, L., McLeod, L., Delacqua, G., Delacqua, F., and Kirby, J. (2019). The REDCap consortium: Building an international community of software platform partners. J. Biomed. Inform., 95.","DOI":"10.1016\/j.jbi.2019.103208"},{"key":"ref_29","unstructured":"(2021, January 08). National Institutes of Health: Common Data Elements, Available online: https:\/\/cde.nlm.nih.gov\/home."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Gill, S.V., May-Benson, T.A., Teasdale, A., and Munsell, E.G. (2013). Birth and development Birth and developmental correlates of birth weight in a sample of children with potential sensory processing disorder. BMC Pediatrics, 13.","DOI":"10.1186\/1471-2431-13-29"},{"key":"ref_31","unstructured":"(2021, April 29). The American College of Obstetrics and Gynecology Definition of Term Pregnancy. Available online: https:\/\/www.acog.org\/clinical\/clinical-guidance\/committee-opinion\/articles\/2013\/11\/definition-of-term-pregnancy."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"94","DOI":"10.5734\/JGM.2013.10.2.94","article-title":"Female Carriers of Duchenne Muscular Dystrophy","volume":"10","author":"Cho","year":"2013","journal-title":"J. Genet. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/mus.27532","article-title":"Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015","volume":"66","author":"Thomas","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_34","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: AMONDYS 45\u2122. Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/casimersen-srp-4045\/."},{"key":"ref_35","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: EXONDYS 51\u00ae. Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/exondys-51\/."},{"key":"ref_36","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: VILTEPSO\u2122. Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/viltolarsen-ns-065-ncnp-01\/."},{"key":"ref_37","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: VYONDYS 53\u00ae. Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/golodirsen-srp-4053\/."},{"key":"ref_38","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: ATALUREN (TRANSLARNA\u00ae). Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/ataluren-translarna\/."},{"key":"ref_39","unstructured":"(2022, August 12). Parent Project Muscular Dystrophy Duchenne Drug Development Pipeline: PF-06939926. Available online: https:\/\/www.parentprojectmd.org\/drug-development-pipeline\/pf-06939926-mini-dystrophin-gene-therapy\/."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1007\/s10072-020-04307-7","article-title":"Is it the right time for an infant screening for Duchenne muscular dystrophy?","volume":"41","author":"Vita","year":"2020","journal-title":"Neurol. Sci."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Chung, W.K., Berg, J.S., Botkin, J.R., Brenner, S.E., Brosco, J.P., Brothers, K.B., Currier, R.J., Gaviglio, A., Kowtoniuk, W.E., and Olson, C. (2022). Newborn screening for neurodevelopmental diseases: Are we there yet?. Am. J. Med. Genet. Part C Semin. Med. Genet.","DOI":"10.1002\/ajmg.c.31988"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/4\/50\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:37:36Z","timestamp":1760143056000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/4\/50"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,22]]},"references-count":41,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijns8040050"],"URL":"https:\/\/doi.org\/10.3390\/ijns8040050","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,22]]}}}