Children at risk after sperm donor develops late onset genetic disease

A Dutch hospital has informed parents of 18 children conceived through artificial insemination that the children have a 50% chance of developing autosomal dominant cerebellar ataxia, inherited from affected donor sperm.

The hospital had wrestled for three years with the information, knowing that the particular subtype of the disorder can be neither identified in a carrier before symptoms appear nor properly treated.

The issue has sparked a debate over the right of children and parents to be informed in such cases and the screening of donors' gametes.

The man carrying the hereditary disorder had donated sperm from 1989 to 1995 to the Jeroen Bosch Hospital in Den Bosch for its artificial insemination programme. The current guidelines on screening for HIV, hepatitis C, syphilis, and chlamydia and any known hereditary disorders in the family had been followed carefully.

Neither the donor nor the hospital had any indication that he carried a hereditary disorder. Symptoms of the progressive brain disorder, beginning with speech and mobility problems, usually appear between the ages of 20 and 50.

Two years later, in 1997, the donor began to suspect a problem and informed the hospital, which destroyed his remaining frozen sperm and informed the healthcare inspectorate. Once his condition was confirmed the hospital began a lengthy process of consulting medical and ethical experts on whether and how to inform parents. In October 2001 the hospital decided to tell the parents through their general practitioners and to offer counselling and support.

The hospital has been criticised for taking too long to take a decision, but it argues that it needed the time to consult and to consider carefully the questions raised. The chairman of the hospital's management board, Frans Croonen, said the hospital took three years to resolve the “terrible dilemma” because it would be “denying people so much joy and giving uncertainty in return.”

The decision was taken also because the children, aged 7 to 13, would shortly reach the age of reproduction and would then be able to pass on the disorder. However, in the future technology may be able to confirm whether people carry the particular subtype of this disorder.

An ethicist at Maastricht University, Guido de Wert, said the hospital faced a genuine dilemma: “It was a basket of bad apples. The advantage of openness is that the child can later make an informed decision on reproduction. The disadvantage is that the news is very threatening, as there are no preventive or therapeutic options.”

He added that there is also the consideration that parents might not yet have told the children about their genetic origins. Though three years was a long time, he argues that the hospital made a “defendable decision.”

Pim Janssens, chairman of the association of sperm banks, rejected broader DNA screening as impractical, too costly, and raising further ethical questions about the extent of screening and requirements to inform the donor.