Screening for Duchenne muscular dystrophy in newborns in the Ningxia region
JING Miao, WANG Yue, JING Xiao-Ying, MAO Xin-Mei
Department of Inherited Metabolic Diseases, Peking University First Hospital Ningxia Women and Children's Hospital/Ningxia Hui Autonomous Region Maternal and Child Health Hospital, Yinchuan 750002, China
Abstract：Objective To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals. Methods A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities. Results Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL. Conclusions Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.
5 Matsuo M. Duchenne muscular dystrophy[J]. Southeast Asian J Trop Med Public Health, 1995, 26 Suppl 1: 166-171. PMID: 8629099.
Mao X, Li S, Ma Y, et al. Ethnic preference distribution of inborn errors of metabolism: a 4-year study in a multi-ethnic region of China[J]. Clin Chim Acta, 2020, 511: 160-166. PMID: 33058845. DOI: 10.1016/j.cca.2020.10.003.
McDonald CM, Henricson EK, Abresch RT, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study[J]. Lancet, 2018, 391(10119): 451-461. PMID: 29174484. DOI: 10.1016/S0140-6736(17)32160-8.
Pascual-Morena C, Cavero-Redondo I, Reina-Gutiérrez S, et al. Prevalence of neuropsychiatric disorders in Duchenne and Becker muscular dystrophies: a systematic review and meta-analysis[J]. Arch Phys Med Rehabil, 2022, 103(12): 2444-2453. PMID: 35839922. DOI: 10.1016/j.apmr.2022.05.015.
Jia C, Zhao D, Li Y, et al. Newborn screening and genomic analysis of Duchenne muscular dystrophy in Henan, China[J]. Clin Chim Acta, 2023, 539: 90-96. PMID: 36516925. DOI: 10.1016/j.cca.2022.11.024.
Timonen A, Lloyd-Puryear M, Hougaard DM, et al. Duchenne muscular dystrophy newborn screening: evaluation of a new GSP? neonatal creatine kinase-MM kit in a US and Danish population[J]. Int J Neonatal Screen, 2019, 5(3): 27. PMID: 33072986. PMCID: PMC7510235. DOI: 10.3390/ijns5030027.
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan[J]. Lancet Neurol, 2018, 17(5): 445-455. PMID: 29398641. PMCID: PMC5902408. DOI: 10.1016/S1474-4422(18)30026-7.
Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne muscular dystrophy: retrospective analysis of 835 patients[J]. Acta Myol, 2012, 31(2): 121-125. PMID: 23097603. PMCID: PMC3476854.
