Improving Trauma & Disability Bias in Prenatal Screening
Photo credit: Rick Guidotti for Positive Exposure.
By Stephanie Meredith, MA; Sierra Weiss, MA; and reviewed by Harold L. Kleinert, EdD
Andy as a newborn. Photo courtesy of Stephanie Meredith.
When my son was born with Down syndrome in 2000, I was 23 years old and had just started my first job out of college. The delivery was difficult, and he was whisked away to the Newborn Intensive Care Unit (NICU) due to some immediate health issues. About four hours after his birth, we were told that the doctors suspected he had Down syndrome. Our doctor brought us into a room together and was fairly matter of fact about our baby’s possible diagnosis. We were so overwhelmed, but we were thrown a vital lifeline the next day. Our hospital had three mothers on staff who served as parent support specialists in the NICU, and one mom walked into our room the next morning and gave us a hug, handed us the book Babies with Down Syndrome, and showed us a photo of her son with Down syndrome on a bike. In that moment, Nancy showed us that life could still be fun and helped us reimagine our future. She answered our most fundamental question at that moment: “What does a life with Down syndrome look like?” and “Who can help us figure it out?” Getting that support right away meant the world to us as young parents and helped us set the stage to get the services and support Andy needed to flourish.
“…one mom walked into our room the next morning and gave us a hug, handed us the book Babies with Down Syndrome, and showed us a photo of her son with Down syndrome on a bike. In that moment, Nancy showed us that life could still be fun and helped us reimagine our future.”
It wasn’t until after talking to other parents and reading Dr. Brian Skotko’s research about diagnosis experiences in 2005 that I realized our experience had been exceptional. Dr. Skotko found that the majority of parents were not receiving the level of support following a diagnosis we experienced.1 Since learning that news, I’ve spent the past two decades involved in volunteer and professional efforts to improve the diagnosis experiences of other moms like me because I know what a difference it can make. I’ve collaborated with some of the top disability advocacy and medical professionals in the country to author and disseminate nationally recommended books for new and expectant parents; to present at national medical conferences about delivering a diagnosis; to create online learning modules for health providers about how to discuss disabilities; and to create communities of practice for dozens of local advocacy organizations engaging in medical outreach. Many dedicated colleagues have similarly worked very hard on this issue.
When we had the opportunity in 2019 to find out how the prenatal diagnosis experiences were going for parents and what resources they were being provided, we were hoping to see improvements. Over 242 parents nationwide of children with Down syndrome whose children were born between 2016-2021 responded to our invitation to share their stories, discuss what their doctors did well and what they didn’t, and indicate which recommendations their obstetricians followed when presenting prenatal screening results. Download that article for free from the Disability and Health Journal through October 13, 2023.
While we definitely found areas of improvement, we were disappointed to discover that—despite recommendations and resources being in place for over a decade 2 —over 61% of parents reported that their obstetrician said they were sorry or presented the diagnosis as bad news; less than 40% reported that their obstetric medical providers presented information about improved social and life outcomes for people with DS or their local DS support group; and less than 30% reported receiving information about support services like Early Intervention or a national DS advocacy organization.3
“…despite recommendations and resources being in place for over a decade — over 61% of parents reported that their obstetrician said they were sorry or presented the diagnosis as bad news…”
Stephanie Meredith, center, and Andy, far right, with their family. Photo courtesy of Stephanie Meredith.
What was even more staggering was the discovery of how bias impacted the provision of information and care. Those who said “I’m sorry” or acted like the diagnosis of Down syndrome was bad news were placed in an implicit bias group and compared to the unbiased group. The biased group performed worse in every category of the recommended practices, and they performed significantly worse in the provision of information about supports and services, advocacy organizations, psychosocial outcomes, and even the provision of more comprehensive healthcare. In fact, the qualitative responses gave more context about the impact on healthcare with one parent saying her clinician missed an important diagnosis of esophageal atresia because of an assumption about people with Down syndrome drooling, and another parent describing how she was not provided information about a heart defect.
When asked what parents wished their doctor would have done, the themes of their responses mirrored the finding of previous research4 when they said they wanted clinicians to provide resources/information about DS, improve their communication about the diagnosis, offer information about support organizations, and provide more balanced information about Down syndrome. Parents described feeling “alone and devastated” and feeling frustrated about one-sided descriptions of negative outcomes where Down syndrome was “painted as a death sentence.”3
“…they wanted clinicians to provide resources/information about DS, improve their communication about the diagnosis, offer information about support organizations, and provide more balanced information about Down syndrome.”
Our research team also examined the open responses where parents described their diagnosis experiences for evidence of implicit or explicit biases. Parents described being told things like:
“How does it make you feel to know that you will die and leave your baby dependent on the state? How do you feel about your child not having good quality of life?” (experienced in 2019)3
“He said just to make you aware this baby will be ‘socially retarded’ you understand that right? She will also need open heart surgery to fix her heart. What are your plans for normalcy for your other children since she will require a lot of time? … He honestly made me feel like I was doing a disservice to my other children if I kept this baby.” (experienced in 2020)3
Overall, 39% described implicit bias in the open responses, and 9% of the parents described explicit bias.3 Nine percent doesn’t seem like a high percentage until you consider that it takes a high bar for discrimination to amount to explicit bias—which is blatantly discriminatory attitudes based on incorrect information. That means nearly 1 out of 10 parents encountered ableism, and we would never consider that acceptable for 1 out of 10 parents to encounter racism, sexism, or any -ism for that matter. Unfortunately, the impact is long lasting and affects patient trust of doctors among parents whose children are most vulnerable and need to rely on medical advice. In fact, a recent study found that the loss of trust was particularly damaging for Hispanic parents of children with DS.6
So, why—after all the work that has been done—are we still hearing these heartbreaking stories? A few theories have been highlighted by the National Council on Disability, scholars in the field, and interdisciplinary workgroups.7-10
We have an engine with no fuel. Even with all the wonderful resources that have been developed—and even with 86% of parents saying the most important time to receive information is after screening—only 30% reported receiving accurate, up-to-date, and balanced resources about DS at the moment of diagnosis in language they could understand.3 The Prenatally and Postnatally Diagnosed Awareness Act that was passed unanimously in 2008 never received funding to accomplish its purpose.11 Consequently, the responsibility to fulfill this public health need, which was caused by the public funding of prenatal screening, has relied on efforts led by non-profit organizations depending on bake sales and annual walks for support.12 Our collective efforts have been valiant, but there is no way that the non-profit funding to provide patient education can keep up with the for-profit and government-subsidized funding of the prenatal screening industry. State laws have been passed as well, but are rarely accompanied by funding or requirements for the provision of information.
Medical professionals need guidance not only for discussing the science of prenatal screening but also the art and humanity of discussing disabilities.8,9 Fundamentally, we need to avoid a public health crisis where people have genetic information and no guidance on what that information means. Consequently, clinicians need explicit guidelines and tools from their national organizations about how to deliver a diagnosis and what information expectant parents need for proper support. These guidelines and tools need to be informed by people with disabilities with lived experience because it is always best practice to include people from health disparity populations when creating guidelines discussing them. Nothing about us without us.
Finally, the fields of medicine and genetics need to address disability bias through mandatory disability cultural competency training for medical students and practicing clinicians.8 The vast majority of doctors enter their profession to serve and help people. No doctor aims to traumatize patients, but doctors are a product of a broader society permeated with ableism, and they need help to better understand how to discuss a historically marginalized population.
Mom holding son with Down Syndrome. Photo Credit: Rick Guidotti for Positive Exposure.
Researcher Perspective Sierra Weiss: I did not have a familial connection to anyone with a disability, so I never considered disability biases until I was abruptly forced to face my own. I was a young camper at sleep-away camp when, in the middle of an activity, I suddenly felt someone jumping on my back. I turned to find the smiling face of a young man with Down syndrome, a fellow camper. I stood frozen, unsure what to do, even scared. When his counselor came to collect him and explained that he was always just looking to meet new people and make friends, I was overwhelmed with embarrassment. How could I have been so unfriendly and disrespectful to a fellow camper? Since that moment, I have dedicated my life and career to researching the importance of engaging with people with lived experience of disability and the impact of the language we use to discuss disability. Sometimes we need a wake-up call to recognize the biases we carry, then we can decide whether we want to be defensive about it or be part of the solution.
“The first step is not passing the buck when all of us can do something to improve these outcomes. Between arguments about abortion and eugenics, it can get messy, but we can’t abandon parents of children with disabilities to deal with the fallout alone.”
After working in this field for nearly 20 years and seeing research studies repeatedly demonstrate that most parents of children with Down syndrome are having negative experiences and not receiving the support and services they need following prenatal screening results, we are left to wonder what more proof is needed before we collectively do something about it. The first step is not passing the buck when all of us can do something to improve these outcomes. Between arguments about abortion and eugenics, it can get messy, but we can’t abandon parents of children with disabilities to deal with the fallout alone. There is a well-established middle ground identified that focuses on giving parents accurate, up-to-date, and balanced information about genetic conditions and offering training to clinicians about avoiding disability bias. We need federal agencies and legislators to make it a priority to support the infrastructure of patient education; we need medical and genetics organizations committed to equity for people with disabilities through representation in the development of guidelines and disability cultural competency training; and we need advocacy organizations engaging in this collaborative work.
References:
1. Skotko BG. Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. Am J Obstet Gynecol. 2005;192(3):670-677. doi:10.1016/j.ajog.2004.11.001
2. Skotko BG, Kishnani PS, Capone GT, for the Down Syndrome Diagnosis Study Group. Prenatal diagnosis of Down syndrome: How best to deliver the news. Am J Med Genet A. 2009;149A(11):2361-2367. doi:10.1002/ajmg.a.33082
3. Meredith S, Weiss S, Kleinert HL, Tyrrell CA. The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing. Disabil Health J. Published online August 2023:101514. doi:10.1016/j.dhjo.2023.101514
4. May CP, Dein A, Ford J. New insights into the formation and duration of flashbulb memories: Evidence from medical diagnosis memories. Appl Cogn Psychol. 2020;34(5):1154-1165. doi:10.1002/acp.3704
5. Nelson Goff BS, Springer N, Foote LC, et al. Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences. Intellect Dev Disabil. 2013;51(6):446-457. doi:10.1352/1934-9556-51.6.446
6. Krell K, Pless A, Michael C, et al. Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. Am J Med Genet A. 2023;191(3):742-752. doi:10.1002/ajmg.a.63069
7. National Council on Disability. Genetic Testing and the Rush to Perfection.; 2019. Accessed February 16, 2023. https://ncd.gov/sites/default/files/NCD_Genetic_Testing_Report_508.pdf
8. Meredith S. Prenatal Disability Education Summit Full Report – The Prenatal Disability Education Summit. In: University of Kentucky Human Development Institute; 2022. Accessed September 20, 2022. https://prenatalsummit.lettercase.org/prenatal-disability-education-summit-full-report/
9. Meredith S, Brackett S, Diaz KM, et al. Recommendations to improve the patient experience and avoid bias when prenatal screening/testing. Disabil Health J. Published online November 2022:101401. doi:10.1016/j.dhjo.2022.101401
10. Knight A, Miller J. Prenatal Genetic Screening, Epistemic Justice, and Reproductive Autonomy. Hypatia. 2021;36(1):1-21. doi:10.1017/hyp.2020.50
11. Leach MW. The Down Syndrome Information Act: Balancing the Advances of Prenatal Testing Through Public Policy. Intellect Dev Disabil. 2016;54(2):84-93. doi:10.1352/1934-9556-54.2.84
12. Meredith S, Kaposy C, Miller VJ, et al. Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States: Impact of prenatal cfDNA screening on non-profit patient organizations. Prenat Diagn. 2016;36(8):714-719. doi:10.1002/pd.4849