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[Carrier screening model for Duchenne muscular dystrophy for women of reproductive age based on a pre-pregnancy birth
Jinxian Zheng1, Shuai Han, Wen Ye
1Hangzhou Health Service Center for Children and Women, Hangzhou, Zhejiang 310006, China. 2466787272@qq.com.
Objective:
To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.
Methods:
A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided.
Results:
For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion.
Conclusion:
Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.
