Stephanie H. Meredith details the findings from a study on the impact of bias on the provision of prenatal diagnosis of Down syndrome.

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I recently led a study published in the Disability and Health Journal, “The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing”. Our study found that most parents of children with Down syndrome who participated (61%) reported that their obstetricians acted like the diagnosis was bad news or said they were sorry. Notably, this is the largest study to date of parents who received a prenatal diagnosis of Down syndrome, and all 242 participants from across the US recently received a diagnosis between 2016-2021. For the past 20 years research and anecdotal reports have shown that these diagnosis experiences are largely negative for patients and can cause trauma. But what exactly makes these experiences negative or positive?

The mixed methods study was designed to find out which recommendations clinicians were following, what information expectant parents were being provided, and how they felt about their experiences. To find out, we asked yes/no questions about which recommendations were being followed and asked open-ended questions about the diagnosis experience. Many common themes revolved around bias. Indeed, the top themes parents identified to improve the diagnosis experience were to

1. Provide resources/information about Down syndrome;
2. Improve communication and provide a more sensitive delivery;
3. Offer information about support organizations;
4. Don’t be overly negative about Down syndrome; and
5. Offer positive information about Down syndrome.

So, we decided to evaluate the quantitative responses for the impact of bias. If respondents said that their doctor acted like the diagnosis was bad news or said they were sorry, we treated these answers as a litmus for implicit bias. What we found was staggering.

Photo of Aaron Kaposy. Photo credit: Chris Kaposy

The clinicians who met the criteria for being “unbiased” performed better in all nine categories—including discussing reproductive options. By a statistically significant margin, unbiased clinicians performed better in the provision of comprehensive prenatal care and the provision of information about Down syndrome, available supports and services like Early Intervention, and advocacy groups. Some parents described that their clinicians missed the diagnosis of major health issues based on stereotypical assumptions about Down syndrome. Indeed, only 17% of parents reported that clinicians in the “biased” group gave them accurate, up-to-date, and balanced information about Down syndrome that they could understand, as compared to 51% in the “unbiased” group. When looking at the combined  totals for all obstetricians, 40% or less provided information about or discussed life outcomes, supports and services, or advocacy groups even though past research has shown this is the information most valued by patients.

Indeed, most of the Down Syndrome Information Acts passed in the past 15 years in the US were launched by parents who indicated they were not given adequate information when learning a possible DS diagnosis. A major criticism voiced by bioethicist Art Caplan claimed that these laws require a positive spin on Down syndrome. However, the text of the federal and state laws do not mention “positive information” but rather specifically recommend “up-to-date information on the range of outcomes for individuals living with the diagnosed condition, including physical, developmental, educational, and psychosocial outcomes” because, as our research confirms, families are largely not given that basic information.

Caplan further asserted that the state laws “[overturn] the long-standing foundational ethical norm of genetic testing and counseling—neutrality in the provision of information.” However, one cannot really argue that neutrality is the standard if 61% of obstetricians present the diagnosis as bad news. Patients have described situations where, “My maternal fetal medicine doctor … said, ‘I’m sorry’ several times and immediately went into all the potential health issues we would need to consider if we really intended to continue with the pregnancy” (experienced in 2018).” Moreover, in cases where explicit bias is shown, patients have been told things in the past 6 years 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).

Conversations about the provision of information at the moment of diagnosis understandably involve complex debates about reproductive rights and eugenics, but addressing discriminatory language and attitudes about disability need not infringe on women’s reproductive decision-making. In fact, women’s rights can be inclusive of disability rights because eliminating disability bias and providing patients with accurate, up-to-date information about disabilities is a solution that can improve patient experiences and also provide better equity toward people with disabilities. The medical and genetics communities have made significant progress over the past two decades, but we need more institutional support for systemic change. Interdisciplinary teams agree that we need a federal government commitment to supporting education and resources about disabilities. We need disability competency curricula for all medical providers, including obstetricians, and toolkits for delivering more complex screening results. And we need medical and genetics organizations to include people with disabilities and their families when drafting care guidelines.

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Stephanie Meredith is the Director of the National Center for Prenatal and Postnatal Resources at the University of Kentucky’s Human Development Institute and also the mother of a 23-year-old with Down syndrome.