How to deliver a Down syndrome diagnosis?

by Petr Kratochvil, photo courtesy of www.publicdomainpictures.net

With the advances in prenatal testing and guidelines recommending prenatal testing be offered to all expectant mothers, more Down syndrome diagnoses are being delivered than ever before. But how should a Down syndrome diagnosis be delivered? Fortunately, there is a very helpful resource that is also a professional guideline by those who should know best.

In submitting my comment to the UK Parliamentary Inquiry, several of the questions asked about what information and resources should be shared with a diagnosis and how patients should be counseled about a diagnosis. What may be news to many is that these can be found in the professional guidelines for the National Society of Genetics Counselors (“NSGC”) on delivering a Down syndrome diagnosis.

The need for improving how a diagnosis was delivered has been detailed in multiple peer-reviewed studies, with two key studies being published by Dr. Brian Skotko. Dr. Skotko surveyed mothers who received a diagnosis postnatally and those who received a prenatal diagnosis. His findings made headlines on the improvement needed in delivering the diagnosis compassionately with accurate, balanced information.

A few years later, Dr. Skotko led a research consortium called the Down Syndrome Diagnosis Study Group. The group surveyed studies across the years on what were the recommended best practices for delivering a diagnosis. Similar to his earlier studies, it revealed that the information to be shared prenatally and postnatally differed in certain respects. This research led to the publication of important papers on best practices for delivering a Down syndrome diagnosis prenatally and postnatally.

Near in time, an effort was being led by several genetics counselors to determine what medical professionals considered important when delivering a diagnosis as compared to what parents considered relevant. While the two groups had some differences, they also shared a lot of common ground on what information was important to share at the time of diagnosis. These researchers published their results on the common ground shared by medical professionals and patients of what was essential information at the time of diagnosis.

With this common ground established, the genetics counselors along with other medical experts, then crafted guidelines that were adopted as the NSGC’s professional recommendations for delivering a Down syndrome diagnosis. The researchers reviewed and relied upon the superb work performed by Dr. Skotko and his colleagues and built in the findings of their study on common ground.

The end result are guidelines that provide simple, bullet point lists on who, what, where, and how to deliver a diagnosis prenatally or postnatally. The “why” for these recommendations is explained by the research on the common ground for what constitutes balanced information and Dr. Skotko’s (and others) findings on the need for improving the quality and content when a diagnosis is delivered.

I have presented many times to groups of medical professionals since the NSGC guidelines were published, and I always highlight how the bullet point list helpfully shares how balanced information about Down syndrome can be presented. Here is the list of that balanced information (click to enlarge):

What I appreciate about this list is its truly balanced representation. For instance, the list does not say that all individuals with Down syndrome will live in a group home or will live independently, but instead accurately notes that individuals with Down syndrome can live independently or in a group home. I also appreciate how succinct the list is. The diagnosis itself can be overwhelming and medical professionals are constantly pressured by time. This list provides a short “crib sheet” on what information needs to be shared initially with a diagnosis. The NSGC guidelines have similar bullet point “crib sheets” for who, how, and where to deliver the diagnosis.

The NSGC Guidelines also provide a helpful collection of approved written and online Down syndrome resources. The prenatal resources listed on this site’s Resources page are included in NSGC’s list of approved resources.

I encourage you to familiarize yourself with the NSGC Guidelines and the significant work of Dr. Skotko. These peer-reviewed, evidence-based resources will help you if you are receiving or delivering a diagnosis yourself,  supporting someone delivering or receiving a diagnosis, or engaged in medical outreach to improve how families receive a Down syndrome diagnosis.

UPDATE: The links to the guidelines should now be fixed. Thank you Terri for alerting me to this.

UPDATE: The NSGC has distilled these guidelines down even further to a simple two page fact sheet which can be accessed here.