A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou.

ABSTRACT:

Background

To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China.

Method

A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific creatine kinase isoform (CK-MM) concentrations using the GSP® Neonatal CK-MM kit based on time-resolved immunofluorescence. We recalled positive cases and recollected dried blood spots (DBS) for retest of CK-MM. The newborns with retest positive result were recalled again for serum creatine kinase (CK) and multiplex ligation-dependent probe amplification (MLPA) test. Whole exon sequencing was performed when MLPA test was negative.

Results

Four males were diagnosed with DMD. The incidence of males was 1/11067. No DMD patient

SUBMITTER: Jia X 

PROVIDER: S-EPMC9587328 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature