Sperm Donor Passed on Deadly Genetic Defect


Test tubeIn a case that highlights the importance of thorough sperm donor screening, it has been revealed that a donor from the early 1990’s passed on a genetic heart defect to nine of his 24 children.  According to a report published the Journal of the American Medical Association, one of those children died at the age of two and two others have developed symptoms and are determined to be at risk for sudden cardiac death.

The defect, Hypertrophic cardiomyopathy, causes thickening of the heart and those afflicted often don’t exhibit any symptoms until adolescence.  However, the sperm donor, who has not been named, was unaware of his condition until after a child born from his sperm was diagnosed. One of the children found to have inherited his condition was born to the donor’s own wife.

Voluntary guidelines require donors to reveal their medical histories to identify those with infectious diseases and family histories of inherited diseases.  But this type of screening would not necessarily reveal a condition like Hypertrophic cardiomyopathy, which effects about 1 in 500 people.

The San Francisco sperm bank involved now screens all donors with electrocardiogram tests and the authors of the study are now recommending that all sperm banks should do the same.