Sperm from a donor who unknowingly carried a devastating genetic condition was used to father nearly 200 children across Europe.
The man was not unwell himself, so had no idea that 20% of his sperm carried a mutation of the TP53 gene, which fights cancer cells in the body when working correctly.
Any children born by this affected sperm will carry this mutation in every cell of their bodies, meaning they are highly likely to develop cancer in their lives, with childhood cancer a particularly high risk.
Their condition is called Li-Fraumeni syndrome, and means they have up to a 90% risk of developing cancer before they turn 60.
A small number of British woman who had fertility treatment abroad were among those who received sperm from this donor, fertility regulator the Human Fertilisation and Embryology Authority (HFEA) said.
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The BBC broke the story after investigating it alongside 13 other public service broadcasters, as part of the European Broadcasting Union’s Investigative Journalism Network.
They said the man’s sperm was used at 67 fertility clinics in 14 different countries.
Some of the 197 children known to have been born using this sperm have already developed cancer, and some have died.
Concerns were first raised at the European Society of Human Genetics this year, when doctors reported they had found 23 children with the variant out of 67 children known be conceived from the sperm at the time, with ten already having developed cancer.
Genetecist Dr Edwige Kasper, who presented the initial data, told the investigation: ‘We have many children that have already developed a cancer.
‘We have some children that have developed already two different cancers and some of them have already died at a very early age.’
Li-Fraumeni Syndrome
The TP53 gene protects from cancer by controlling the growth of cells, but it does not work properly in those with the mutation.
This puts them at high risk from cancers including breast cancer; brain tumours; osteosarcoma; soft tissue sarcomas, and childhood cancers.
Unlike most genes which raise the risk of cancer, such the BRCA gene linked to breast cancer, the gene is associated with childhood cancers, as well as adult onset.
Li-Fraumeni is a ‘rare syndrome’, according to an article from the National Institutes of Health in the US, which says there are likely to be over 1,000 multi-generational families with the syndrome around the world.
Affected people should have yearly scans and ultrasounds to monitor for tumours.
One single mother whose daughter was born with the mutation said it was unacceptable she received sperm that ‘wasn’t clean, that wasn’t safe, that carried a risk’.
It is possible that more than 197 children could have been born to the donor, as some may not yet have been traced.
Mary Herbert, professor of reproductive biology at Monash University in Melbourne, said: ‘This harrowing news highlights an urgent need for more comprehensive genetic screening of sperm donors and for strict cross-border controls on the number of children conceived from a single donor.
‘It is staggering that a single donor was used to conceive almost 200 children across a relatively small number of European countries. It would seem reasonable for the businesses that profit from donated sperm to take responsibility for its usage.’
The HFEA confirmed that the sperm was not distributed to licensed UK clinics.
In the UK, a donor’s sperm can only be used to create children in up to 10 families, but in different countries, the limits are different.
The report said that although in Belgium a single donor should only be used by six families, there were 53 children born to this donor from 38 women.
Peter Thompson, chief executive of the HFEA, said: ‘We can confirm that the Danish Patient Safety Authority has informed us that a very small number of UK women have been treated in Danish Fertility clinics with this sperm donor.
‘We understand that they have been told about the donor by the Danish clinic at which they were treated.’
Clare Turnbull, professor of cancer genetics at The Institute of Cancer Research, London, said: ‘This represents a highly unfortunate coincidence of two exceptionally unusual events: that the donor’s sperm carry mutations for an extremely rare genetic condition affecting fewer than 1 in 10,000 people and that his sperm has been used in the conception of such an extraordinarily large number of children.
‘Li Fraumeni syndrome is a devastating diagnosis to impart to a family. There is a very high risk of cancer throughout the lifetime.’
Why wasn’t the genetic mutation picked up by screening?
The donor and his family were healthy, and not aware of any problem. He also did not inherit the mutation, but developed it spontaneously in some cells before he was born.
Prof Jackson C Kirkman-Brown, an expert in fertility and sperm at the University of Birmingham, said: ‘Screening for something de-novo in testis will never work on blood.
‘Each sperm in an ejaculate is slightly different so screening these is also not simple – though if a child is born with a condition the screening sperm approach can be used to tell if a risk like this exists.
‘In the end the issue here is around family limits and extended un-monitored use.
‘ESHRE are currently in the final stages of drafting a position on international family limits in donation. This is expected to be released formally in spring and is hoped to guide international legislation.’
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