Re-printed from the AUA Daily Scope Newsletter.
Sperm donor unknowingly passes potentially deadly genetic heart condition to offspring.
The AP (10/21, Tanner) reports that a paper appearing in the Journal of the American Medical Association reveals that a "sperm donor passed on a potentially deadly genetic heart condition" -- hypertrophic cardiomyopathy -- "to nine of his 24 children, including one who died at age two from heart failure." The story has spotlighted the "importance of thoroughly screening sperm donors." At present, "voluntary sperm bank guidelines say donors should be required to provide a complete medical history to rule out those with infectious diseases or a family history of inherited diseases."
A number of centers also provide genetic testing for conditions like "cystic fibrosis and sickle cell traits," according to MedPage Today (10/20, Fiore). However, those conditions are "much less common than hypertrophic cardiomyopathy in the general population." Therefore, the researchers at Abbott Northwestern Hospital "suggest that an echocardiogram may be a good way to determine which patients should be excluded from donating sperm." They also recommended "recording donor information in a national, searchable database to easily identify and notify any affected offspring if a genetic disorder is found."
Perhaps rather than an expensive echochardiogram, we just start with a detailed history and physical exam. His condition could have been initially detected by history then confirmed with more expensive testing.
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