Screening for Duchenne muscular dystrophy in newborns in the Ningxia region

JING Miao; WANG Yue; JING Xiao-Ying; MAO Xin-Mei

doi:10.7499/j.issn.1008-8830.2309151

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (3) : 258-261. DOI: 10.7499/j.issn.1008-8830.2309151

CLINICAL RESEARCH

Screening for Duchenne muscular dystrophy in newborns in the Ningxia region

JING Miao, WANG Yue, JING Xiao-Ying, MAO Xin-Mei

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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.

Key words

Duchenne muscular dystrophy / Screening / Incidence rate / Creatine kinase isoenzyme / Critical threshold / Newborn

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JING Miao, WANG Yue, JING Xiao-Ying, MAO Xin-Mei. Screening for Duchenne muscular dystrophy in newborns in the Ningxia region[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(3): 258-261 https://doi.org/10.7499/j.issn.1008-8830.2309151

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