Newborn screening for Duchenne muscular dystrophy: A two-year pilot study

被引:16
|
作者
Tavakoli, Norma P. [1 ,2 ]
Gruber, Dorota [3 ,4 ]
Armstrong, Niki [5 ]
Chung, Wendy K. [6 ]
Maloney, Breanne [1 ]
Park, Sunju [1 ]
Wynn, Julia [6 ]
Koval-Burt, Carrie [6 ]
Verdade, Lorraine [3 ]
Tegay, David H. [3 ,7 ]
Cohen, Lilian L. [8 ]
Shapiro, Natasha [9 ]
Kennedy, Annie [10 ]
Noritz, Garey [11 ]
Ciafaloni, Emma [12 ]
Weinberger, Barry [13 ,14 ]
Ellington, Marty [14 ,15 ]
Schleien, Charles [3 ,14 ]
Spinazzola, Regina [14 ,16 ]
Sood, Sunil [14 ,17 ]
Brower, Amy [18 ]
Lloyd-Puryear, Michele [19 ]
Caggana, Michele [1 ,2 ]
机构
[1] New York State Dept Hlth, Div Genet, Wadsworth Ctr, Albany, NY USA
[2] SUNY Albany, Dept Biomed Sci, Albany, NY USA
[3] Northwell Hlth, Dept Pediat, Cohen Childrens Med Ctr, New Hyde Pk, NY USA
[4] Zucker Sch Med Hofstra Northwell, Dept Pediat, Hempstead, NY USA
[5] Parent Project Muscular Dystrophy, Washington, DC USA
[6] Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY USA
[7] IQVIA, Durham, NC USA
[8] NewYork Presbyterian Cornell, New York, NY USA
[9] NewYork Presbyterian Queens, Flushing, NY USA
[10] EveryLife Fdn, Washington, DC USA
[11] Nationwide Childrens Hosp, Columbus, OH USA
[12] Univ Rochester, Pediat Neuromuscular Med, Rochester, NY USA
[13] Northwell Hlth, Div Neonatol, Cohen Childrens Med Ctr, New Hyde Pk, NY USA
[14] Zucker Sch Med Med Hofstra Northwell, Dept Pediat, Hempstead, NY USA
[15] Northwell Hlth, Dept Pediat, Lenox Hill Hosp, New York, NY USA
[16] Northwell Hlth, Div Neonatal Perinatal Med, Cohen Childrens Hosp, North Shore Univ Hosp, Manhasset, NY USA
[17] Northwell Hlth, South Shore Univ Hosp, Bay Shore, NY USA
[18] Amer Coll Med Genet & Genom, Bethesda, MD USA
[19] NIH, Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA
来源
关键词
SHOULDER DYSTOCIA INCIDENCE; CREATINE-KINASE; SERUM; EXPERIENCE; MANAGEMENT; DIAGNOSIS; DATABASE; BLOOD; GENE;
D O I
10.1002/acn3.51829
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:1383 / 1396
页数:14
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