1. Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.
- Author
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Han, Shuai, Xu, Hong, Zheng, Jinxian, Sun, Junhui, Feng, Xue, Wang, Yue, Ye, Wen, Ke, Qing, Ren, Yanwei, Yao, Shulie, Zhang, Songying, Chen, Jianfen, Griggs, Robert C., Zhao, Zhengyan, Qi, Ming, and Gatheridge, Michele A.
- Subjects
CARRIER state (Communicable diseases) ,CREATINE kinase ,DUCHENNE muscular dystrophy ,MOLECULAR diagnosis ,MUSCLE proteins ,REPRODUCTIVE health ,GENETIC testing ,DESCRIPTIVE statistics - Abstract
Carrier screening of Duchenne muscular dystrophy (DMD) has not been widely evaluated. To identify definite DMD female carriers prior to or in early pregnancy, we studied a large population of reproductive age females and provided informed reproductive options to DMD carriers. 37268 females were recruited from the Hangzhou Family Planning Publicity and Technology Guidance Station/Hangzhou Health Service Center for Children and Women, Hangzhou, China, between October 10, 2017, and December 16, 2018. CK activity was measured with follow-up serum DMD genetic testing in subjects with hyperCKemia, defined as CK > 200 U / L. The calculated upper reference limit (97.5
th percentile) of serum creatine kinase (CK) for females aged 20-50 years in this study was near the reference limit recommended by the manufacturer (200 U/L), above which was defined as hyperCKemia. 427 females (1.2%) harbored initially elevated CK, among which 281 females (response rate of 65.8%) accepted CK retesting. DMD genetic testing was conducted on 62 subjects with sustained serum CK > 200 U / L and 16 females with a family history of DMD. Finally, 6 subjects were confirmed to be DMD definite carriers. The estimated DMD female carrier rate in this study was 1 : 4088 (adjusting for response rate), an underestimated rate, since only 50% to 70% of DMD female carriers manifest elevated serum CK, and carriers in this study may have been missed due to lack of follow-up or inability to detect all DMD pathogenic variants by current genetic testing. [ABSTRACT FROM AUTHOR]- Published
- 2020
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