Sperm Donor Gives Rare Genetic Disease to Kids

May 19, 2006 — -- American women use at least 60,000 donations from sperm banks each year, and a new report raises concerns about what they receive from these donors.

The Journal of Pediatrics says a rare disease was passed from a single donor to five children born in Michigan.

"I was totally surprised that it happened," said Dr. David Dale, who wrote the Journal of Pediatrics report. "I would have thought it would never happen with the rareness of this disease or the chance of mutation in this gene."

The now school-aged boys and girls have a genetic disease called severe congenital neutropenia, a blood disorder that affects one in 5 million births.

With 500 sperm banks in the United States and donors who father multiple children, doctors said it was only a matter of time before a group of children received the same disorder from one donor.

"In over 30 years that we've been doing this, this is the first time we've ever had anything like this," said International Cryogenics director Mary Ann Brown. "The only birth defects we've ever had have been like 1 in 1,000, where in the general population it's 1 in 100."

Few Regulations for Sperm Banks

Every bank decides how many children one donor can father. For this suburban Detroit location, 20 was the limit.

Most banks test for more than 10 diseases, from genetic conditions like cystic fibrosis to HIV and hepatitis, and conduct a thorough interview in which they get the donor's medical history. But they do not test for rare disorders.

While the Food and Drug Administration has some oversight over sperm banks, there are no universal regulations regarding which genetic tests must be done. Ten banks are accredited by the American Association of Tissue Banks.

"There are standards in place but there is no regulation of these clinics and no oversight," said Dr. Rosamond Rhodes, director of bioethics education at Mount Sinai Medical Center. "Without regulation of, or the means for people reporting back when there is a genetic mistake, there's no way of preventing many children from being affected."

Medical ethicists say this case should be a wake-up call and that more oversight is needed for this burgeoning industry, but even the strictest rules might not prevent a rare disease, adds the author of the report.

"Everyone needs to know there's some uncertainty associated with having children either through a sperm bank or naturally," Dale said.

He added that even with testing it's unlikely diseases could be entirely avoided. "With all the genes in our body a lot of things can go wrong, so the genetic screening or testing of donors is probably never going to be complete."

Still, for women like Debra Walker who are using a sperm bank to try to conceive, today's report is disconcerting.

"It makes you stop and think, 'Oh, gee, what if this happens to my child,' but there is no guarantee, there are never guarantees," Walker said.

The bank in Michigan has spoken to three of the families involved, and said they have not heard from any other families with children showing signs of severe congenital neutropenia.

And the five children who do have the rare disease are doing fine, according to Dale, and are taking daily shots.