It has sparked a worldwide health alert after a Danish donor, who called himself Kjeld, was found to be the carrier of an extremely rare TP53 gene mutation which dramatically increases the risk of cancer. But his sperm, unknown to him until his death in 1995, was used for almost two decades to conceive nearly 200 of the children born in at least 14 countries around the world, set off a global conversation about screening fertility donors and regulation.
The problem came to light when a donor-conceived child was found to have cancer, and further testing revealed the child had inherited that same rare mutation. Subsequent research found that the donor had the mutation in mosaicism, so only some of his sperm cells were affected. So, it was virtually undetectable by typical genetic analyses – effectively spreading unnoticed among many families.
How the Sperm Donor’s ‘Genius’ Spread Across the World
The donor provided sperm starting in 2006, when he did so through a leading European fertility bank, and ending in late 2023. Over the next couple of years, his specimens were sent to dozens of clinics around the world, resulting in nearly 200 births. Nearly half of these children were born in Denmark and the other half in various countries.
Conventional sperm donor recruitment is by and large tied up with more frequent or widely publicized genetic disorders. But the TP53 mutation is very rare so it’s not part of routine testing. The TP53 gene produces a protein that protects against tumor formation, but when mutated can result in Li-Fraumeni syndrome, a disorder that significantly raises the risk of developing cancer at any point during a lifetime – with increased likelihoods at an early age.
Once the child was diagnosed, they re-tested stored samples and found that he had passed the gene mutation to about 20% of his sperm. As a result, all remaining samples were immediately discontinued for further use.
Urgent Issue of Tightening Sperm Donor Regulations
Now, families affected by the revelation are calling for greater transparency and better safety procedures. The issue of the absence of uniform international laws on donors has factored into global debates following this case. While some countries have restricted the number of children a single donor can father to as low as 10, others have few or no restrictions, leading to irresponsible and unsafe distribution.
Experts claim that stricter genetic testing and international donor restrictions are necessary to prevent such a scenario from happening again. They stress that fertility systems need to adapt in order to safeguard families who depend on donor-assisted reproduction, and for genetic safety of future children across borders.
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