Call for upgraded screening of sperm donors

US experts are recommending sperm donors undergo more comprehensive screening after a case highlighted the risk of transmitting inherited cardiovascular disorders to offspring. 

A 23-year-old man with unrecognised heart disease unwittingly transmitted a gene mutation causing hypertrophic cardiomyopathy (HCM) to his offspring after donating sperm from 1990 to 1991 through a US Food and Drug Administration-approved tissue bank.

Despite negative results after tests for infectious and transmissible diseases were conducted, a personal and family history taken, and a physical examination performed, he was identified with HCM when one of his offspring was diagnosed with the disease.

Subsequent tests showed nine of his 24 offspring had the gene mutation, including three who had currently expressed phenotype evidence of HCM, one who died at two years of age from heart failure, and two survivors with left ventricular hypertrophy.

The authors suggested ECG monitoring might be a beneficial screening strategy for potential donors.

“Available screening guidelines rely largely on obtaining a family history, a strategy not likely to be particularly effective for the clinical identification of most HCM patients,” they said.

However, Professor Michael Chapman, a fertility specialist at IVF Australia, said while risks associated with widespread use of donor sperm could be an issue he didn’t believe ECG monitoring was viable.  

“ECG monitoring, yes, you could make an argument for it, but I think it would be a huge amount of resources for very little return,” he said.

The likelihood of widespread transmission of genetic diseases was small, as sperm donation was limited to 10 families per donor in most states, and restricted to five in NSW and SA, he said. 

Some donor programs also utilised genetic counsellors to obtain detailed genetic family histories with tissue donors at significant risk excluded, Dr Chapman said.

JAMA 2009; 302(15):1681-1684.