Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.

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

SUBMITTER: Han S 

PROVIDER: S-EPMC7537677 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature