There are a number of reasons why prenatal medical outreach is an important priority for patient advocacy organizations and advocates who serve people with genetic conditions. Let’s explore them below:
Prenatal screening has been consistently expanding over the past decade as the technology has evolved since the release of cell-free DNA/NIPS/NIPT in 2011. Learn more about this technology from the ACOG Cell-free DNA Prenatal Screening Test (Infographic). In addition, screening has been adopted more into practice since the the American College of Obstetricians and Gynecologists (ACOG) recommended in 2007 that all women be offered screening regardless of age, and ACOG outlined in 2016 how cell-free DNA screening can be utilized. For a full discussion of the evolution of prenatal screening, see the Hastings Center Report. Fundamentally, we can anticipate that the majority of families in the future will learn that their child has Down syndrome during pregnancy.
Dr. Brian Skotko describes the moment of receiving a diagnosis as a “flashbulb memory,” a memory people can describe with near perfect clarity years later. This moment creates the emotional framework for how expectant parents receive the news. Unfortunately, research by Nelson-Goff showed that 35% of patients reported a negative experience when their clinician delivered a prenatal diagnosis of Down syndrome compared to only 11% reporting a positive experience (2013). So for every one parent having a positive experience, three are having a negative experience. One of our goals with the prenatal medical outreach program is to give clinicians the resources and support they need to help make sure families have a positive experience.
For many families, a prenatal diagnosis is the first point on the life course, and providing them with access to supports and services from the start can help improve longterm health outcomes and emotional well-being.
Medical professionals must focus on a broad array of topics in medical school from best practices for performing a c-section to treating endometriosis. This means that they may not have gotten much time to focus on genetic conditions, particularly information about life outcomes beyond common medical issues. Research by Cleary-Goldman showed that 45% of practicing obstetricians rated their residency training regarding prenatal diagnosis as “barely adequate or nonexistent.” Therefore, they may likely value additional tools to discuss these conditions.
Until the past few years, people with Down syndrome who were black or Hispanic had much lower life expectancies than white people with Down syndrome. This disparity was not because of increased medical conditions but was largely because of disparities in access to supports, services, and healthcare. Therefore, it’s critical that families from all ethnicities and cultures have access to information about available services right from the start. Our Lettercase resources are translated into 10 different languages and are recommended in the NIH HealthReach database for immigrants.
The medical community and expectant parents need information that addresses the concerns of patients, medical providers, and the advocacy community. Research by Sheets and Levis, show that expectant parents want to learn about medical issues and also supports and services like early intervention. They also want to see photographs of people living with the conditions and to get information about family outcomes, adult life, and recreation to provide a more balanced view of what life is like for people living with genetic conditions. In addition, clinicians want resources that are recommended in guidelines, resources that cover medical issues, and resources that cite peer-reviewed research when making claims about life outcomes. Meanwhile, disability advocates want materials that get beyond the medical model of disability to also cover life outcomes, and they want materials to use respectful language and imagery. Prenatal medical outreach efforts can ensure that clinicians have access to credible and balanced resources to give expectant parents the information they need.
Ultimately, medical providers can benefit from a closer relationship with the patient advocacy community so that because advocacy groups can provide reputable contact information and inform clinicians about the most helpful sources of information. In addition, advocacy organizations can benefit from closer relationships with the medical community so that they can learn from the medical expertise and share helpful resources for expectant parents with the medical providers. As these relationships of trust grow, they can start to offer presentations together, serve as trusted advisors, engage in community service together, and more.