NY Times article : In Choosing a Sperm Donor, a Roll of the Genetic Dice

By admin on May 16, 2012

In Choosing a Sperm Donor, a Roll of the Genetic Dice

Sharine and Brian Kretchmar of Yukon, Okla., tried a number of medical treatments to conceive a second child. After a depressing series of failures, a doctor finally advised them to find a sperm donor.

For more than a year, the Kretchmars carefully researched sperm banks and donors. The donor they chose was a family man, a Christian like them, they were told. Most important, he had a clean bill of health. His sperm was stored at the New England Cryogenic Center in Boston, and according to the laboratory’s Web site, all donors there were tested for various genetic conditions.

So the Kretchmars took a deep breath and jumped in. After artificial insemination, Mrs. Kretchmar became pregnant, and in April 2010 she gave birth to a boy they named Jaxon.

But the baby failed to have a bowel movement in the first day or so after birth, a sign to doctors that something was wrong. Eventually Jaxon was rushed to surgery. Doctors returned with terrible news for the Kretchmars: Their baby appeared to have cystic fibrosis.

“We were pretty much devastated,” said Mrs. Kretchmar, 33, who works as a nurse. “At first, we weren’t convinced it was cystic fibrosis, because we knew the donor had been tested for the disease. We thought it had to be something different.”

But genetic testing showed that Jaxon did carry the genes for cystic fibrosis. Mrs. Kretchmar had no idea she was a carrier, but was shocked to discover that so, too, was the Kretchmars’ donor. His sperm, they would later discover, was decades old, originally donated at a laboratory halfway across the country and frozen ever since. Whether it was properly tested is a matter of dispute.

Sadly, the Kretchmars’ experience is not unique. In households across the country, children conceived with donated sperm are struggling with serious genetic conditions inherited from men they have never met. The illnesses include heart defects, spinal muscular atrophy and neurofibromatosis type 1, among many others.

Hundreds of cases have been documented, but it is likely there are thousands more, according to Wendy Kramer, founder of the Donor Sibling Registry, a Web site she started to help connect families with children who are offspring of the same sperm donor.

Donated eggs pose a risk as well, but the threat of genetic harm from sperm donation is arguably much greater. Sperm donors are no more likely to carry genetic diseases than anybody else, but they can father a far greater number of children: 50, 100 or even 150, each a potential inheritor of flawed genes, and each a vector for making those genes more pervasive in the general population.

The scale of the problem is only now becoming apparent with the advent of online communities like Ms. Kramer’s. “There needs to be oversight, and some regulation of the industry,” she said.It is not known how many children are born each year using sperm donors, because mothers of donor offspring are not required to report their births. By some estimates, there are more than a million children in this country conceived with donated sperm or eggs.

The Food and Drug Administration requires that sperm donors be tested for communicable diseases, but there is no federal requirement that sperm banks screen for genetic diseases. Some of the betters ones do anyway, in accordance with guidelines promulgated by organizations like the American Society for Reproductive Medicine, which encourages sperm banks to test donors for conditions like cystic fibrosis and mental retardation when there is a family history of the disease. Generally, the donor himself is tested, not his sperm.

But compliance with those guidelines is not obligatory, and genetic testing practices vary widely across the United States. Critics of the industry are calling for mandatory and consistent medical and genetic testing of all donors.

“In this day and age, when you have genetic testing available for about $200, there’s no reason sperm banks can’t provide this for clients,” said Ms. Kramer.

The fertility industry, however, has long resisted the idea.
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