By Stephanie Meredith
A recent New York Times article, “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong” by Sarah Kliff, indicates that when cell-free DNA prenatal screening results show that a baby has high chances for some rare genetic conditions, the baby actually does not have the condition 70-90% of the time (a false positive) (2022). Many parents at the other end of the screening results describe the experience as stressful and scary because they weren’t given sufficient information about the accuracy of the tests and the possibility of false positives. Kliff shares that one reason why expectant parents misunderstand the screening tests is because testing labs describe their screening tests as “reliable,” “highly accurate,” etc. in their advertising materials. Moreover, the author asserts that the companies are highly motivated to expand testing so that they can increase profits in a highly lucrative market. Yet, this widening pool of expectant parents who are undergoing testing can leave some parents in the lurch when they don’t receive the counseling and information they need to properly understand the screening tests. Kliff effectively highlights these important issues and presents a strong case for FDA regulation of advertising claims made by testing labs and insurance coverage of independent genetic counseling.
However, the article does not delve into the social biases against disabilities that these prenatal testing labs rely on to market their screening tests or the lack of support and resources about the conditions that families often face after receiving screening results. In a presentation at the National Society of Genetic Counselors in 2014, George Estreich highlighted how the marketing by testing labs often asserts that women need to undergo screening to have a “healthy baby,” and the photos usually depict visibly pregnant, affluent women. He explained that the converse, unstated message conveys that people with those genetic conditions are ‘undesirable’ and ‘unhealthy.’ Therefore, the tests rely on fear to sell the tests. These fears may be real concerns based on life-threatening medical issues, but they may also be based on stereotypes about disabilities that are not grounded in reality. This is why patients deserve accurate, balanced, up-to-date, and research-based information about the tests, conditions, and available supports and services so that they aren’t left scared and without the tools to process the information.
In fact, the article seems to inadvertently reinforce stigmatizing language about disabilities by calling the screening results “grave predictions” and providing reductionist, one-sentence descriptions about a range of complex conditions, including Turner syndrome, Prader-Willi syndrome, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, etc. For example, when the author describes Turner syndrome, she briefly mentions the condition can cause infertility and heart defects. However, one could also highlight that “Those who want children may choose to adopt. They can also explore the option of assisted reproductive technology, such as in vitro fertilization with donor eggs. To become pregnant, women with Turner syndrome must be checked for medical and heart conditions that can be life-threatening during pregnancy. With these options, they have a number of ways to become parents, as do other women with fertility issues“ (http://understandingturnersyndrome.org). Turner syndrome is a complex condition with a constellation of strengths and challenges manifested differently in each individual, and reducing any condition to only it’s two or three most common challenges is reductionist and stigmatizing toward people with those conditions.
Another significant concern is that parents often report that they don’t receive the resources and support they need following prenatal screening results (Nelson-Goff, 2013), and the experience can be traumatizing for them (May, 2020). In fact, the article describes the parent experience as “agonizing” as they “frantically research[ed] conditions they’d never heard of.” They are usually frantically researching those conditions because neither the testing lab nor the provider offered them sufficient information about the condition (Nelson-Goff, 2013). Beyond the screening results, expectant parents want information about what life is like for people living with these conditions, including family outcomes, educational services and supports, advocacy organizations, etc. as provided by the Lettercase National Center for Prenatal and Postnatal Resources: Lettercase.org (Sheets, 2011; Levis, 2012).
Based on the prenatal screening issues highlighted in this article and the subtext underlying it, perhaps we can consider the following potential solutions to promote more informed healthcare for expectant parents and greater equity toward people with disabilities in the prenatal screening process :
If interested in this issue, you should also check out our poster on “Addressing Current Gaps in the Provision of Prenatal Testing to Improve Patient Support and Present Disabilities More Equitably.”
Kliff, S. .& Bhatia, A. (2022, Jan. 1). When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong. New York Times. https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html.
Stoll, K., Estreich, G., and Daley, B. (2014, Sep. 18). Non-Invasive Prenatal Screening: Data, Marketing and Women’s Choices. National Society of Genetic Counselors (NSGC) Annual Education Conference, New Orleans, LA.
Meredith, S. (2016). Understanding a Turner Syndrome Diagnosis. Lettercase. http://understandingturnersyndrome.org.
Nelson Goff, B. S., Springer, N., Foote, L. C., Frantz, C., Peak, M., Tracy, C., … & Cross, K. A. (2013). Receiving the initial Down syndrome diagnosis: a comparison of prenatal and postnatal parent group experiences. Mental Retardation, 51(6), 446-457.
May, C. & Jaclyn Ford, A. (2020). New insights into the formation and duration of flashbulb memories: Evidence from medical diagnosis memories. Applied Cognitive Psychology, 34 (5), 1154-1165.
Sheets, K. B., Best, R. G., Brasington, C. K., & Will, M. C. (2011). Balanced information about Down syndrome: what is essential?. American Journal of Medical Genetics Part A, 155(6), 1246-1257.
Levis, D. M., Harris, S., Whitehead, N., Moultrie, R., Duwe, K., & Rasmussen, S. A. (2012). Women’s knowledge, attitudes, and beliefs about Down syndrome: A qualitative research study. American Journal of Medical Genetics Part A, 158(6), 1355-1362.
Other resources by prenatal subcommittee members:
Mark Leach on Down Syndrome Prenatal Testing Blog: http://www.downsyndromeprenataltesting.com/ny-times-prenatal-tests-for-rare-disorders-usually-wrong/