Rizzo came to suspect a genetic link involving the sperm donor for both children, after finding several other children conceived with the same donor’s sperm who have also been diagnosed with autism or related developmental challenges. A geneticist with expertise in autism identified possible autism-risk genes carried by the children. Her story, in a report published by The Washington Post on Sept. 14, prompted an outpouring of comments and questions — legal, scientific and ethical — about her case.
A number of readers asked how common it is for serious genetic issues to be linked to donor sperm.
While there is no central database of donors and their children in the United States, some sperm banks try to mitigate risks of donors passing on genetic conditions by testing them for up to 400 common heritable conditions. However, genetic testing is not required and is by no means comprehensive, as evident by the case studies reported in medical journals regularly.
In 2002, the BMJ, formerly the British Medical Journal, detailed the case of a sperm donor who may have passed down the genes for a progressive brain disorder — which begins with speech and mobility problems between the ages of 20 and 50 — to 18 children. In 2006, doctors reported in the Journal of Pediatrics that a sperm donor passed an extremely rare and dangerous ailment known as severe congenital neutropenia to five children born to four families. And a 2009 issue of JAMA described how nine of 24 offspring of one donor had a condition known as hypertrophic cardiomyopathy, which can lead to sudden cardiac death.
Many of the half-siblings in these clusters found one another in online communities for donor-conceived people and their families, such as the Donor Sibling Registry.
There’s no simple genetic test for autism. Doctors can screen to see whether someone has genes that might lead to a higher risk, but it is often very difficult to interpret the results.
What about the use of donor sperm, in vitro fertilization or other types of assisted reproduction? Could it have any impact on a child’s development?
Rizzo asked this question of the CDC in 2015. Below is the CDC’s response, which still represents the best available information, according to a spokesperson.
Thank you for your inquiry regarding autism and use of donor sperm. To our knowledge, there is currently no evidence linking the occurrence of autism to the use of donor sperm. Findings from some studies have suggested an association between the use of assisted reproductive technology (ART) and autism; however much of the increased autism risk was explained by complications of pregnancy, such as preterm birth, which are more common among children with autism than children without autism. For example, infants conceived using ART are more likely to be born preterm than infants conceived naturally and all infants born preterm are more likely to have subsequent diagnoses of developmental conditions, including autism.In addition, results of two studies indicate that the use of intracytoplasmic sperm injection (injection of a single sperm into an egg) may be associated with an increased risk for autism. These studies did not distinguish between use of donor sperm versus use of partner sperm.Associations have also been documented between autism and several factors that might be more (or less) common among men who have donated sperm. These include various genetic indicators (including copy number variants) and advanced paternal age. However, we are unable to assess the frequencies of these genetic markers or the age of men contributing to sperm banks.We hope this information helps address your concerns. You might also find your state health department to be helpful. Some references are listed below for additional information.Christine Fountain, Yujia Zhang, Dmitry M. Kissin, Laura A. Schieve, Denise J. Jamieson, Catherine Rice, and Peter Bearman. Association Between Assisted Reproductive Technology Conception and Autism in California, 1997-2007. American Journal of Public Health. 2015; 105:963-971. http://www.ncbi.nlm.nih.gov/pubmed/25790396 [ncbi.nlm.nih.gov]Sven Sandin, Karl-Gösta Nygren, Anastasia Iliadou, Christina M. Hultman, and Abraham Reichenberg. Autism and Mental Retardation Among OffspringBorn After In Vitro Fertilization. JAMA. 2013;310:75-84. http://www.ncbi.nlm.nih.gov/pubmed/23821091 [ncbi.nlm.nih.gov]Dmitry Kissin, Yujia Zhang, Sheree Boulet, Christine Fountain, Peter Bearman, Laura Schieve, Marshalyn Yeargin-Allsopp, and Denise Jamieson. Association of assisted reproductive technology (ART) treatment and parental infertility diagnosis with autism in ART-conceived children. Human Reproduction. 2015;30:454-65. http://www.ncbi.nlm.nih.gov/pubmed/25518976 [ncbi.nlm.nih.gov]Trent Gaugler, Lambertus Klei, Stephan J. Sanders, Corneliu A. Bodea, Arthur P. Goldberg, et al. Most genetic risk for autism resides with common variation. Nature Genetics. 2014;46:881-5 http://www.ncbi.nlm.nih.gov/pubmed/25038753 [ncbi.nlm.nih.gov]Centers for Disease Control and Prevention email to Danielle Rizzo July 9, 2015
One of the biggest questions arising from Rizzo’s case is that of legal liability, and how to assign dollar figures to the harm.
According to Rizzo’s boys’ “life care” plans — put together by a team of doctors, social workers and other experts — they will need more than $7 million worth of interventions. After Rizzo sued the parent company of the sperm bank she used, they offered her $250,000 to end the suit. Desperate for money to fund their treatments, she accepted, but after attorney fees and expenses, she and her ex-partner are left with a large gap. (A friend of Rizzo’s has set up a GoFundMe page to help her with the expenses.)
While many cases involving the fertility industry have been unsuccessful because of the complexity of the law or have been settled confidentially out of court, there has recently been at least one large monetary award. In 2017, a trial judge upheld a medical malpractice verdict of more than $7.5 million in a lawsuit against a Syracuse, N.Y., clinic that failed to screen for cystic fibrosis.
Many readers debated the ethics of screening sperm or embryos for autism if scientists develop a way to do it one day.
A similar soul-searching took place in Britain a few years ago when Britain’s largest sperm bank banned men with dyslexia, autism or ADHD from donating. Critics accused the London Sperm Bank of promoting eugenics and trying to “improve” the human race through genetic selection. The country’s fertility watchdog launched a review of the policy amid concerns it might illegally discriminate against tens of thousands of men. The clinic said it would withdraw the ban and that it would ensure “that all future donors are treated fairly and in accordance with the law.”
In an essay this week in Above the Law, a website about law, law schools and the legal profession, Ellen Trachman, a lawyer in Denver specializing in assisted reproductive technology law, expressed mixed feelings about the idea of screening for autism: “There are those who don’t think autism should be screened, even if it could be. Some argue that this would be a step too far down the road to eugenics and designer babies, since the human population needs to be neurologically diverse. After all, some brilliant and famous people may have been on the autism spectrum — including Albert Einstein, Emily Dickenson, and Steve Jobs.”
However, she wrote, “I’m inclined to agree that parents ought to be able to make decisions based on as much as information as possible. So good for Rizzo for vindicating that right.”