Related Experiment Video
Updated: Aug 24, 2025
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou
Xuefang Jia1, Xiang Jiang1, Yonglan Huang1
1Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Insights
Newborn screening for Duchenne muscular dystrophy (DMD) in Guangzhou found an incidence of 1/11067 in males. Adjusting screening cut-offs for gestational age and sampling time can improve efficiency, prioritizing male infants.
Area of Science:
- Biochemistry
- Genetics
- Neonatal Screening
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder.
- Effective newborn screening is crucial for early intervention.
- Guangzhou, China, implemented a screening program to assess DMD prevalence.
Purpose of the Study:
- To estimate the incidence of Duchenne muscular dystrophy (DMD) in newborns in Guangzhou, China.
- To evaluate the effectiveness of current newborn screening methods for DMD.
- To identify factors influencing screening results and optimize the screening protocol.
Main Methods:
- Screened 62,553 newborns for DMD using muscle-specific creatine kinase isoform (CK-MM) levels.
- Recalled positive cases for confirmatory testing including serum creatine kinase (CK) and multiplex ligation-dependent probe amplification (MLPA).
- Utilized whole exon sequencing for cases where MLPA testing was negative.
Main Results:
- Diagnosed four male infants with DMD, yielding an incidence of 1/11067.
- No DMD cases were identified in female newborns.
- Found significant correlations between CK-MM concentration and gestational age, birth weight, and age at sampling, with stronger links to gestational age and sampling age.
Conclusions:
- CK-MM concentration in newborns is influenced by gender, gestational age, birth weight, and age at sampling.
- Optimizing DMD screening efficiency may involve tiered cut-off values adjusted for gestational age and sampling age.
- Newborn screening for DMD should prioritize male infants due to observed incidence patterns.
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 was found in female. There were significant differences of CK-MM concentration between male and female newborns. Among gestational age (GA), birth weight (BW) and age at sampling, linear regression analysis showed that CK-MM concentration was much more closely correlated with GA and age at sampling.
Conclusions:
CK-MM concentration is affected by gender, GA, BW and age at sampling. The efficiency of DMD screening might be improved by adjusting a multitier cut-off value according to GA and age at sampling. DMD newborn screening should be male priority.
More Related Videos
09:18Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
05:16Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020