Scandal in Europe over sperm donor with high-risk cancer mutation

Un sperm donor with a genetic mutation that increases the risk of cancer has given rise, at least, 197 births across EuropeAccording to a broad international journalistic investigation involving media outlets such as the BBC, RTVE, and CNN, the case has uncovered a major control failure in the assisted reproduction system and has set off alarm bells among affected families, specialists and health authorities.

The situation came to light after it was confirmed that Several children conceived with this donor's sperm developed different types of cancer at very young ages.and that some have died. What initially seemed like isolated incidents has ended up becoming a health scandal of European scope, with especially impactful in countries like Spain, Belgium or the Netherlands.

Who is the donor and how was the problem detected?

The man, identified in internal documentation as "donor 7069" or "Kjeld", He began donating sperm in 2005, when he was a student, at the Copenhagen branch of the European Sperm Bank (ESB). He passed the standard medical checks of the time, without anything suggesting that part of his sperm carried a genetic alteration of enormous severity.

The investigation coordinated by the European Broadcasting Union (EBU) Investigative Journalism Network, of which several European public television broadcasters are members, reveals that This donor's semen was used for about 17 yearsBetween 2006 and 2023 it was distributed to 67 fertility clinics in 14 countries, without there being any overall control over the total number of children being conceived with their samples.

The problem finally came to a head in 2023, when doctors specializing in childhood cancer They began to connect the dots between several cases of children with aggressive tumors and the same donor code. From there, It was confirmed that the alteration was associated with a mutation in the TP53 gene, related to Li-Fraumeni syndrome, and the immediate blocking of the use of his semen was ordered.

Until then, the anomaly had gone unnoticed because It was not present in all of the donor's cellsAccording to experts, most of his body does not carry the dangerous variant, but up to 20% of his sperm does contain it, which means that some of the children conceived will inherit the mutation in all their cells.

The TP53 mutation and Li-Fraumeni syndrome

The Gen TP53 plays a key role as a "guardian" against cancerIts main function is to prevent damaged cells from continuing to divide and becoming tumors. When this gene is altered, this protective system fails, and the risk of cancerous cells appearing skyrockets.

In this case, the variant detected in the donor's offspring is associated with Li-Fraumeni syndrome, a very rare inherited disorder that It significantly increases the probability of developing one or more types of cancer. throughout life, with a particular impact on childhood and adolescence. Some estimates place the cumulative risk at around 90%.

Children who inherit this mutation are more predisposed to brain tumors, sarcomas, leukemias, lymphomas and other rare cancers at young ages. Women also have a very high risk of breast cancer in adulthood, so many opt for drastic preventive measures, such as prophylactic mastectomy.

Dr. Edwige KasperA cancer geneticist at the University Hospital of Rouen (France) has closely followed several of the affected children and explained that they have already been identified children with two different cancers and that some have died at a very young age. Other specialists, such as Professor Clare Turnbull, from the Institute of Cancer Research in London, describe this diagnosis as "terrible" and "devastating" for any family.

How many children are there in Europe and what is known about their situation?

The figure that the researchers are working with is at least 197 children conceived with this donor's sperm in 14 European countries, although the actual number is suspected to be higher, as complete data has not been obtained from all the countries involved. It is unclear how many of these children have inherited the mutation, but it is known that a significant percentage are carriers.

The initial data presented by Dr. Kasper to the European Society of Human Genetics spoke of 67 children identified linked to the donor, ten of whom had already been diagnosed with some type of cancer. As the research progressed, the total number of births attributed to the donor skyrocketed, as did the number of children with the TP53 variant.

Among the cases collected are families in which Several siblings conceived with the same donor share the mutationAnd at least one of them has already developed cancer. In other households, one child is a carrier and another is not, which necessitates separate medical follow-up, even within the same family.

The recommended medical monitoring for these children is very intensive: annual body and brain MRIs, frequent abdominal ultrasounds, and regular cancer check-upsThe goal is to detect tumors in very early stages to increase the chances of successful treatment.

Impact in Spain: children affected and legal limits exceeded

Spain is among the countries most affected by this case. According to the EBU investigation and media outlets such as RTVE, The semen from donor 7069 was distributed to four Spanish assisted reproduction clinicsWith these samples, 35 children were conceived, linked to treatments carried out in Spain.

Of those 35, Ten were born into families residing in Spain The remainder are women from other countries who traveled to Spanish centers seeking treatment, in the context of so-called "reproductive tourism." Authorities have confirmed that at least Three children conceived in Spain are carriers of the TP53 mutation and that one of them has already been diagnosed with cancer.

The case has put the spotlight on the compliance with Spanish regulationsThe law limits to a maximum of six families the number of times a single donor's sperm can be used. The investigation suggests this limit has been exceeded, partly due to the combination of treatments for Spanish and foreign women and the difficulty of monitoring the figures when the sperm comes from an international bank.

Spanish clinics involved in the use of these samples claim that They notified the potentially affected families When they received notification of the mutation, health authorities have asked parents who have doubts to contact the centers where they carried out the treatment to request information and, if necessary, genetic testing.

Other European countries under scrutiny

Beyond Spain, the list of countries where children of the donor have been detected is long. Netherlands It is one of the territories with the most cases: at least 49 babies were conceived there with this semen until 2013, in addition to dozens of other births in non-resident women who traveled to the country to undergo treatments.

En BelgiumIn Belgium, where the alarm was raised months ago, 53 babies have been conceived using the sperm of 7069 donors, a figure that far exceeds the limit of six families per donor set by Belgian law. The Belgian Public Prosecutor's Office has opened an investigation into the actions of one of the main fertility clinics involved.

The distribution network also reaches Greece, Germany, Ireland, Poland, Albania, Kosovo, Cyprus, Georgia, Hungary and North MacedoniaAmong others. In some of these places, births and sick children have been documented; in others, the information is incomplete or it has been confirmed that no children were born despite samples having been sent.

The United Kingdom No sperm from this donor was sold to local clinics, but authorities have acknowledged that a small number of British women traveled to Denmark for treatments that did use his samples. The Human Fertilisation and Embryology Authority (HFEA) has indicated that these women have already been informed by the relevant Danish clinic.

The role of the European Sperm Bank and the system's failures

The semen from donor 7069 was managed and marketed by the European Sperm Bank, based in Denmark, one of the largest international suppliers to assisted reproduction clinics. The organization acknowledges that the case has had a "profound" impact on the families and on the donor himself, who, they emphasize, acted in good faith and without knowing his genetic condition.

The bank argues that He applied the medical and legal protocols in force at each time. And that, in the years when the donor began to collaborate, it was not technically possible to identify such an alteration, present only in a small fraction of his sperm. Genetics experts, such as Ann-Kathrin Klym, point out that in 2005-2008 these mutations could not be detected with the routine tests available.

Even so, the company has admitted that in some countries it They exceeded national limits for births per donor and attributes it to a combination of factors: insufficient information from certain clinics, weak registration systems, and the difficulty of controlling the international flow of samples when reproductive tourism exists.

After the mutation was confirmed in several descendants, in November 2023 it was definitively blocked the use of donor semen A process was initiated to locate the families, inform them, and offer them genetic counseling. The bank has expressed its support for establishing stricter limits at the European level on the number of children per donor.

Limitations of genetic testing and debate on controls

This case has reopened the debate on How far should genetic controls for sperm donors go? And what level of safety is truly achievable? Experts like Professor Allan Pacey, former head of a sperm bank in Sheffield, warn that it is impossible to guarantee zero risk, even with very strict protocols.

In the current system, Only between 1% and 2% of donor candidates are accepted After passing medical tests, family history checks, and screenings for the most common infectious and genetic diseases, further expanding the testing process would exclude many more men and could lead to a significant donor shortage, directly impacting thousands of couples and individuals who rely on these samples to have children.

The truth is that not all rare and mosaic mutations —as in this case, limited to part of the sperm— can be detected beforehand. Many experts insist that, even with current genomic sequencing technology, there will always be a margin of uncertainty and extremely exceptional cases that escape detection.

Even so, the advancement of analytical techniques has led to calls broader and more homogeneous genetic screenings across Europeas well as systems for periodic updates that allow for the review of older samples when new risks are identified. Professional organizations emphasize that these changes should be accompanied by a thorough ethical and legal debate.

Lack of international coordination and limits on the number of children per donor

One of the most sensitive points that this case has revealed is the absence of common international regulations that regulates how many children can be conceived with the sperm of a single donor. Each country sets its own limits, but there is no global cap or shared registry that tallies all births resulting from these samples when they are distributed internationally.

En SpainThe legal maximum is six recipient families per donor; in the United Kingdom It focuses on ten families; in Belgium A similar ceiling exists. However, when sperm crosses borders and is used in dozens of clinics, It is relatively easy for those limits to be exceeded. without anyone having a complete picture of the actual number of births.

The European Society of Human Reproduction and Embryology has proposed to establish a limit of up to 50 families per donor as a reference for Europe, thinking not so much about the genetic risk —since this would not prevent the transmission of rare diseases— but about the psychological well-being of the children, who in some cases discover that they have hundreds of half-siblings scattered around the world.

Organizations such as Progress Educational Trust warn that the social and emotional implications Having such a high number of half-siblings is not yet fully known, but it could be very relevant, especially when young people begin to trace their genetic origins through commercial DNA tests and social media.

Affected families: fear, uncertainty and need for support

The personal stories behind the statistics give an idea of ​​the true impact of the case. Mothers like Céline, French, or Dorte Kellermann, DanishThey have recounted to the media their mixture of anguish, anger, and helplessness. Many of them were single mothers or couples who turned to donor sperm as their only way to have a child, trusting in the safety of the system.

Some families claim that They hold no grudge against the donorThey see him as another victim of a chain of errors and legal loopholes. However, they consider it unacceptable to have received genetic material that, although unknown at the time, turned out to be unsafe. The feeling that information has been withheld from them or that communication has been fragmented is very common in their testimonies.

In addition to the understandable fear of cancer, many parents face complex decisions about their children's futureFrom subjecting them to genetic testing and exhaustive medical checkups to considering whether to have more offspring, knowing that there is a 50% probability of passing the mutation on to the next generation.

Patient associations and groups of people with fertility problems point to the need for Strengthen psychological support, genetic counseling, and transparent information for all the families involved, both in this case and in other possible similar episodes that may arise in the future.

Reactions from authorities and possible regulatory changes

As a result of the journalistic investigation, various European health authorities and regulatory bodies have initiated internal investigations and reviews of their protocolsIn some countries, such as Belgium, the case has already triggered actions by the Public Prosecutor's Office against specific clinics for the possible breach of the legal limits of births per donor.

In other states, authorities have chosen to focus on the active location of families and in the development of guides so that concerned parents can contact their clinics and national regulatory bodies for information and genetic testing.

At the European level, the idea of ​​promoting clearer and more transparent common standards In the field of assisted reproduction: from a coordinated registry of donors and births to shared standards on minimum genetic screenings and offspring limits. The European Sperm Bank has expressed its support for defining uniform rules for everyone.

Despite the seriousness of the case, experts and organizations point out that Situations like this are extremely rare. This is true considering the total number of children born using donor sperm. Even so, they believe this episode should serve as a wake-up call to close gaps in the system and strengthen the confidence of people who use assisted reproduction.

This whole case starkly illustrates how a combination of exceptional genetic mutation, limited controls, and a lack of international coordination This could lead to a major health and human problem: hundreds of families scattered across Europe, children under constant medical supervision, and an open debate about how far genetic testing, shared registries, and limits on births per donor should go in order to protect, without alarmism but with rigor, the health of future generations.