Receiving a Down Syndrome Diagnosis During Pregnancy: Q&A with Brian Skotko, MD, MPP

Brian Skotko, MD, MPP, director of the Down Syndrome Program and the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital, has spent the last 20 years aiming to understand the prenatal and postnatal experiences of parents who have received a Down syndrome diagnosis for their child. In this Q&A, Skotko discusses the findings from his latest research and describes how clinicians can improve the patient experience for families that receive a Down syndrome diagnosis.

Q: Can you tell me more about your recent research on Down syndrome? 

BS: Our team has been examining parents’ perceptions of their prenatal support after they received a Down syndrome diagnosis. I began this work in 2003, when I had initially surveyed parents who received a Down syndrome diagnosis during pregnancy. At that time, parents said that the information that they received from their clinicians was oftentimes incomplete, outdated, and sometimes offensive. We wondered whether experiences had improved for new parents who more recently received such a diagnosis.

Our new findings show that not much has changed, and, if anything, the parents’ experiences have worsened. Many reforms to date, from legislation to community-based education interventions, have been neither mandatory nor adequately funded, possibly explaining why they have not succeeded in improving outcomes for families over time.    

Q: What are some common challenges parents experience when receiving a Down syndrome diagnosis? 

BS: Through our research we found that 57% of parents reported that their clinician inadequately explained Down syndrome after a prenatal diagnosis, causing 84% of parents to experience fear and 93% of parents to experience anxiety. Few parents reported that their clinician provided enough up-to-date printed or digital materials on Down syndrome. In addition, we found, many parents felt pressured to terminate the pregnancy. 

Q: What can clinicians do to improve the patient experiences for parents? 

BS: Expectant parents have asked that providers be neutral, by explaining all pregnancy options without judgement or pressure. Online training is now available for clinicians who would like to practice how to deliver prenatal Down syndrome diagnoses without judgment or bias. Clinicians should be sensitive to the fact that expectant parents may perceive pity, negative associations, or pressure to terminate from their providers. Disability competency training is another tool that may help clinicians avoid conveying bias. Clinicians should ensure resources are made easily accessible and include community support information.

Q: Are there resources you refer parents to when they receive a Down syndrome diagnosis? 

BS: Expectant parents often benefit from connections with other parents and support groups. In Massachusetts, for example, our Massachusetts General Hospital Down Syndrome Program has a collaboration with the Massachusetts Down Syndrome Congress (MDSC). The MDSC runs a parent-led First Call Center, which connects interested expectant parents with other families so that they can get real-life answers to their practical and pressing questions. I also like to ensure that expectant parents have access to the balanced and up-to-date materials produced by Lettercase in collaboration with medical societies and advocacy organizations. 

Q: What motivates you to study this particular area of research? 

BS: I am a practicing physician, and I have the privilege of meeting so many families before and after they have had a baby with Down syndrome. I have heard first-hand from parents how those initial clinical encounters really do matter. I feel a responsibility to see if we can motivate systematic change so that more families have more encouraging starts on their journeys. Over the past several years, the Down syndrome community has worked with the medical community to create resources and educational materials. However, our work is not over!  Now is the time for all of us to take a hard look at implementation efforts.