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February 17, 2010

Heritable Disease and Sperm Donation

JAMA. 2010;303(7):617-619. doi:10.1001/jama.2010.122

To the Editor: The description by Dr Maron and colleagues1 of the unintended transmission of hypertrophic cardiomyopathy (HCM) by sperm donation raises the question of genetic screening in gamete donors and its limits. The authors suggested that systematic electrocardiography (ECG) could represent a valuable strategy for excluding donors at risk of HCM. However, because of limited or age-related penetrance in HCM, up to 50% of mutation carriers have a normal ECG at the age of gamete donation.2

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