Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-08-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51829 |
| _version_ | 1797743610928562176 |
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| author | Norma P. Tavakoli Dorota Gruber Niki Armstrong Wendy K. Chung Breanne Maloney Sunju Park Julia Wynn Carrie Koval‐Burt Lorraine Verdade David H. Tegay Lilian L. Cohen Natasha Shapiro Annie Kennedy Garey Noritz Emma Ciafaloni Barry Weinberger Marty Ellington Jr Charles Schleien Regina Spinazzola Sunil Sood Amy Brower Michele Lloyd‐Puryear Michele Caggana the Duchenne Muscular Dystrophy Pilot Study Group |
| author_facet | Norma P. Tavakoli Dorota Gruber Niki Armstrong Wendy K. Chung Breanne Maloney Sunju Park Julia Wynn Carrie Koval‐Burt Lorraine Verdade David H. Tegay Lilian L. Cohen Natasha Shapiro Annie Kennedy Garey Noritz Emma Ciafaloni Barry Weinberger Marty Ellington Jr Charles Schleien Regina Spinazzola Sunil Sood Amy Brower Michele Lloyd‐Puryear Michele Caggana the Duchenne Muscular Dystrophy Pilot Study Group |
| author_sort | Norma P. Tavakoli |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T14:57:56Z |
| format | Article |
| id | doaj.art-d24ffc53f1be41f8a6922ad035a5e93e |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-03-12T14:57:56Z |
| publishDate | 2023-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-d24ffc53f1be41f8a6922ad035a5e93e2023-08-14T13:58:31ZengWileyAnnals of Clinical and Translational Neurology2328-95032023-08-011081383139610.1002/acn3.51829Newborn screening for Duchenne muscular dystrophy: A two‐year pilot studyNorma P. Tavakoli0Dorota Gruber1Niki Armstrong2Wendy K. Chung3Breanne Maloney4Sunju Park5Julia Wynn6Carrie Koval‐Burt7Lorraine Verdade8David H. Tegay9Lilian L. Cohen10Natasha Shapiro11Annie Kennedy12Garey Noritz13Emma Ciafaloni14Barry Weinberger15Marty Ellington Jr16Charles Schleien17Regina Spinazzola18Sunil Sood19Amy Brower20Michele Lloyd‐Puryear21Michele Caggana22the Duchenne Muscular Dystrophy Pilot Study GroupDivision of Genetics Wadsworth Center, New York State Department of Health Albany New York USADepartment of Pediatrics, Cohen Children's Medical Center Northwell Health New Hyde Park New York USAParent Project Muscular Dystrophy Washington DC USADepartment of Pediatrics Columbia University Irving Medical Center New York New York USADivision of Genetics Wadsworth Center, New York State Department of Health Albany New York USADivision of Genetics Wadsworth Center, New York State Department of Health Albany New York USADepartment of Pediatrics Columbia University Irving Medical Center New York New York USADepartment of Pediatrics Columbia University Irving Medical Center New York New York USADepartment of Pediatrics, Cohen Children's Medical Center Northwell Health New Hyde Park New York USADepartment of Pediatrics, Cohen Children's Medical Center Northwell Health New Hyde Park New York USANewYork‐Presbyterian Cornell New York New York USANewYork‐Presbyterian Queens Flushing New York USAEveryLife Foundation Washington DC USANationwide Children's Hospital Columbus Ohio USAPediatric Neuromuscular Medicine University of Rochester Rochester New York USADivision of Neonatology, Cohen Children's Medical Center Northwell Health New Hyde Park New York USADepartment of Pediatrics Zucker School of Medicine of Medicine at Hofstra/Northwell Hempstead New York USADepartment of Pediatrics, Cohen Children's Medical Center Northwell Health New Hyde Park New York USADepartment of Pediatrics Zucker School of Medicine of Medicine at Hofstra/Northwell Hempstead New York USADepartment of Pediatrics Zucker School of Medicine of Medicine at Hofstra/Northwell Hempstead New York USAAmerican College of Medical Genetics and Genomics Bethesda Maryland USAEunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland USADivision of Genetics Wadsworth Center, New York State Department of Health Albany New York USAAbstract 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.https://doi.org/10.1002/acn3.51829 |
| spellingShingle | Norma P. Tavakoli Dorota Gruber Niki Armstrong Wendy K. Chung Breanne Maloney Sunju Park Julia Wynn Carrie Koval‐Burt Lorraine Verdade David H. Tegay Lilian L. Cohen Natasha Shapiro Annie Kennedy Garey Noritz Emma Ciafaloni Barry Weinberger Marty Ellington Jr Charles Schleien Regina Spinazzola Sunil Sood Amy Brower Michele Lloyd‐Puryear Michele Caggana the Duchenne Muscular Dystrophy Pilot Study Group Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study Annals of Clinical and Translational Neurology |
| title | Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study |
| title_full | Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study |
| title_fullStr | Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study |
| title_full_unstemmed | Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study |
| title_short | Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study |
| title_sort | newborn screening for duchenne muscular dystrophy a two year pilot study |
| url | https://doi.org/10.1002/acn3.51829 |
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