Advances in newborn screening techniques for Duchenne muscular dystrophy
10.3760/cma.j.cn113903-20240228-00166
- VernacularTitle:杜氏肌营养不良症新生儿筛查技术研究进展
- Author:
Dongyang HONG
1
;
Bin YU
Author Information
1. 南京医科大学附属妇产医院、南京市妇幼保健院遗传医学中心，南京 210004
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy, Duchenne;
Neonatal screening;
Creatine kinase;
MicroRNAs;
Genetic testing
- From:
Chinese Journal of Perinatal Medicine
2024;27(12):1101-1106
- CountryChina
- Language:Chinese
-
Abstract:
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular genetic disorder that significantly impacts the quality of life and life expectancy of affected children. Early detection and diagnosis are crucial for the treatment and management of affected individuals, as well as for providing genetic counseling to family members considering future pregnancies. Neonatal screening is an essential method for early DMD detection. Currently, the primary approaches for neonatal DMD screening involve various indicators and techniques, including the detection of creatine kinase, muscle-type creatine kinase isoenzymes, muscle-specific microRNAs, and genetic screening. This article reviews the development process, detection principles, screening efficiency, benefits, and constraints of these screening methods, aiming to offer a comprehensive reference for clinical practice and future research.
