Why the study?
Carrier screening of Duchenne muscular dystrophy had not been widely evaluated to identify definite female carriers prior to or in early pregnancy.
What is the population-wide carrier rate of Duchenne muscular dystrophy among reproductive-age females using a two-step CK and molecular testing approach?
What is the population-wide carrier rate of Duchenne muscular dystrophy among reproductive-age females using a two-step CK and molecular testing approach?
A population-wide screening approach using CK levels followed by genetic testing identified an estimated DMD carrier rate of 1:4088 among reproductive-age females in China, though this likely underestimates the true prevalence.
CK-based DMD carrier screening may identify at-risk women preconception; leaves open larger prospective studies before routine adoption.
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 (97.5th 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.
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Han et al. (2020) studied this question.
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