title: Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
abstract: Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing. Of the 182 eligible respondents, 25% did not know their carrier status and 14% incorrectly classified themselves as not at risk. Cost of testing was the most commonly identified barrier to testing. Women reporting unknown carrier status were 13 times as likely to express uncertainty regarding their recurrence risk compared to women reporting positive carrier status. 37% of women at an increased risk for cardiomyopathy had never had an echocardiogram. Women who were certain of their positive carrier status were twice as likely to have had an echocardiogram in the last five years compared to women with unknown carrier status. Future research on reducing barriers to counseling and carrier testing, such as cost, may improve care standard adherence.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI 48105, USA; Parent Project Muscular Dystrophy, Hackensack, NJ 07601, USA.
authors.forename: Lauren
authors.initials: L
authors.lastname: Bogue
authors.affiliation: Parent Project Muscular Dystrophy, Hackensack, NJ 07601, USA; RTI International, Durham, NC 27709, USA.
authors.forename: Holly
authors.initials: H
authors.lastname: Peay
authors.affiliation: Parent Project Muscular Dystrophy, Hackensack, NJ 07601, USA.
authors.forename: Ann
authors.initials: A
authors.lastname: Martin
authors.affiliation: Parent Project Muscular Dystrophy, Hackensack, NJ 07601, USA.
authors.forename: Ann
authors.initials: A
authors.lastname: Lucas
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI 48105, USA. Electronic address: sindhur@med.umich.edu.
authors.forename: Sindhu
authors.initials: S
authors.lastname: Ramchandren
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D003430:Cross-Sectional Studies; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D033181:Information Dissemination; D008875:Middle Aged; D009035:Mothers / Q000523:psychology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000517:prevention & control; D011446:Prospective Studies; D035781:Siblings; D055815:Young Adult
keywords: Becker muscular dystrophy; Carrier care standards; Carrier testing; Duchenne muscular dystrophy; Genetic counseling; Genetic testing