When Donor Conception Reveals A Hidden Risk
What Families Can Learn From a Rare Genetic Cancer Case
Advances in assisted reproductive technology have helped millions of individuals and couples build families who otherwise could not. Sperm donation, in particular, has long been considered a safe and well-regulated path to parenthood. However, a recent international case, reported on by the BBC has raised serious questions about genetic screening, donor limits, and legal safeguards in fertility treatment.
According to the report, sperm from a single European donor carrying a rare cancer-linked genetic mutation was used to conceive nearly 200 children across a multitude of countries. The mutation, associated with Li-Fraumeni syndrome, was not discovered until after some of the donor-conceived children developed cancer.
While this case is extremely rare, it underscores an important truth: no fertility system is entirely risk-free, and the legal frameworks surrounding donor conception matter just as much as the medical ones. This week’s blog discusses this headline-making news, as well as some o the key considerations intended parents should keep in mind as they look to expand their families.
What is Li-Fraumeni Syndrome?
Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder that significantly increases a person’s lifetime risk for multiple cancers, often at a young age, due to a mutation in the TP53 tumor suppressor gene. People with LFS have a high chance of developing cancers like soft tissue sarcomas, osteosarcoma, breast cancer, brain tumors, and even leukemia. Unfortunately, this gene can even lead to two separate cancer diagnoses in one affected individual. The syndrome is passed down genetically in an autosomal dominant pattern, which means that only one altered gene copy is needed, with a 50% chance of passing it to each child.
While sophisticated science technologies allow for comprehensive genetic testing, some rare genetic conditions can be harder to pinpoint. Given that this sperm donor donated his genetic material in the early 2000s, technology was not as advanced as it is today in 2025. When it comes to LFS, not every carrier of the genetic mutation shows signs of the mutation, and finding the TP53 mutation is not always a confirmation of LFS. It is a notoriously hard genetic condition that requires expert interpretation of family history and genetics. When considering sperm donations, always be sure that you are consulting with a clinic that invests heavily in advanced medical screenings. While genetic markers can be tricky to pinpoint, an experienced sperm bank will have the tools and mechanisms in place to help identify potential genetic material that carries risks for genetic diseases and mutations.
Understanding How A Rare Mutation Went Undetected
As we now know, the donor at the center of this story carried the mutation in his TP53 gene. However, at the time of the donation, the donor reportedly did not know that he carried the mutation and the standard screening protocols did not identify the condition. Since the sperm was flagged as healthy, it was distributed widely and used repeatedly across national borders in Europe. Then, years later, several of the children conceived with the donor’s sperm developed cancer, which prompted further genetic testing. During this second round of testing, it was revealed that the children all shared the TP53 mutation. As a result, the remaining children conceived from the donor’s sperm were prompted to have urgent medical monitoring to ensure that any instance of cancer relating to the TP53 mutation was found as early as possible.
Understandably, the situation has sparked concern across the World as fertility treatments become more common. However, keep in mind that this case is extremely rare, and overall, donated genetic material is highly regulated and thoroughly tested. One clinic’s mishap is not a reason to discount the entire assisted reproductive landscape.
Why This Case is So Unusual
To be clear, this case is extraordinarily rare. Most donor-conceived children grow up to be healthy and free of unknown genetic diseases attributed to the donated genetic material. Fertility clinics and sperm banks follow robust screening protocols, as directed by the FDA here in the States. However, rarity does not eliminate responsibility, especially when the stakes involve a child’s long-term health.
This case matters because it underscores the importance of structural assurances in the fertility industry to prevent donated material from carrying hidden genetic diseases. Even when no one acts negligently, gaps in regulation can have life-altering consequences.
How Donor Screening Typically Works
Most reputable sperm banks and fertility clinics conduct extensive screening before accepting a donor. Typically, the tests are two fold – the clinic will examine the medical and family history of the donor, as well as run genetic testing on the donated material.
When it comes to medical and family history, donors are asked to provide detailed information about their personal and family medical history, as well as known inherited conditions. Of course, the clinic will also ask about their lifestyle to identify any activities that may negatively impact the viability of donated material, such as habitual smoking or high levels of drinking alcohol. However, this initial phase is heavily reliant on self-reporting. So, if a donor is unaware of a genetic condition and the condition has not manifested itself in any of the family members of the donor, it may not be initially flagged. That’s where genetic testing comes into play.
In genetic testing, the clinics will screen for commonly inherited conditions including, but not limited to:
- Cystic Fibrosis
- Spinal Muscular atrophy
- Certain hemoglobin disorders
- BRCA mutations (susceptibility to breast cancer)
- Tay-Sachs Disease
Some sperm banks offer expanded carrier screening, but even the most comprehensive panels cannot detect every possible mutation. Rare conditions, late-onset disorders, and newly identified mutations may still go undetected.
Whole-genome or whole-exome sequencing is not yet a standard practice due to cost and ethical concerns, as this advances the damaging narrative of “designer babies” that the fertility industry has tried so desperately to get away from.
What Happens If A Baby Is Born With A Rare Genetic Disorder?
While incredibly uncommon, it is not impossible for a baby born from donated genetic material that contained a genetic disease. In these cases, many parents have sought legal action against the sperm banks/fertility clinics. While most of the claims spring out of medical malpractice, which is not our specialty, with a properly drafted contract with the fertility clinic/sperm donation agency, parents may have a chance to raise a breach of contracts claim.
At Douglas Fertility & Surrogacy Law Group, PLLC, our contracts are comprehensive and thorough. Our attorneys review any presented agreement to identify any points of concern, such as vague or loose terms surrounding genetic material testing. If the sperm bank is contractually tied to performing tests that are designed to screen out the very genetic condition that the child is born with, the intended parents may be able to receive damages for the breach of contract, if it can be proven that the terms were not followed properly.
A bombshell case involving claims relating to a child conceived through donated genetic material was Paretta v. Med. Offices for Human Reproduction, out of the Supreme Court for New York County. In 2003, a husband and wife filed a claim for medical malpractice against the IVF clinic as a result of their child being born with Cystic Fibrosis, a genetic condition linked to the donated genetic material. While the medical malpractice claim was dismissed, the couple was ultimately awarded damages in the form of financial damages to compensate for the heightened medical care of the child born with cystic fibrosis.
What Intended Parents Should Keep In Mind
If you are an intended parent seeking to expand your family through ART, you will likely be meeting with a representative from a clinic and reading many forms relating to genetic testing and donation of genetic material. It is important that you speak with a qualified fertility law attorney to understand the documents you are signing and ensure that they protect you as much as the law can provide. Intended Parents often sign consent forms that acknowledge genetic screening is not foolproof, however, we find that many families do not fully understand the limits of testing, what happens if a serious genetic conditions is discovered later, and what legal rights they have if harm occurs.
If you are considering donor conception, this story underscores the importance of proceeding informed and protected. But remember, there is no such thing as the perfect baby, and while genetic diseases get the spotlight when tic comes to donated genetic material, genetic disorders have long been a part of humanity and our evolution, and are not a sign of a failure in the fertility technology used to help intended parents expand their families.
The discovery that a rare genetic cancer mutation was unknowingly passed to nearly 200 donor-conceived children is of course tragic, but it is also instructive. It reminds us that building a family through assisted reproduction meets at the intersection of legal and medical dimensions that must be navigated together. With proper screening, thoughtful legal guidance, and informed consent, donor conception remains a safe and meaningful path to parenthood for countless families.
If you are considering donor sperm, surrogacy, or other reproductive options, contact our office today. Working with an experienced fertility law attorney can help protect not just your legal rights, but your family’s future.