Open AccessPopulation-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing
Author(s) -
Shuai Han,
Hongtao Xu,
Jinxian Zheng,
Junhui Sun,
Feng Xue,
Yue Wang,
Wen Ye,
Qing Ke,
Yanwei Ren,
Shulie Yao,
Songying Zhang,
Jian Fei Chen,
Robert C. Griggs,
Zhengyan Zhao,
Ming Qi,
Michele A. Gatheridge
Publication year - 2020
Publication title -
biomed research international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 126
eISSN - 2314-6141
pISSN - 2314-6133
DOI - 10.1155/2020/8396429
Subject(s) - population , duchenne muscular dystrophy , percentile , medicine , algorithm , computer science , mathematics , statistics , environmental health
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.