How to deliver a Down syndrome diagnosis … better

Too many parents have bad experiences from how their medical team delivered the diagnosis that their child has Down syndrome. Fortunately, research, guidelines, and online training exist on how best to deliver the diagnosis.

While more medical professionals are delivering the diagnosis in a better way, there remain too many who are not. Hence why a study published just in 2013 found parents saying they had a negative prenatal experience with their medical team 2.5 times for every positive experience.

But, it doesn’t have to be this way.

Fortunately, research has been done and guidelines published and on-line training exists for medical professionals to increase the number of positive experiences and reduce the negative ones. Here’s how to deliver a Down syndrome diagnosis better:

1. Where takes precedence over when

While the medical team should share the diagnosis as soon as possible in a postnatal setting (for the reasons discussed below), the setting where that news is shared should take precedence. Parents should be in a place where they can openly express emotion.

In a postnatal setting, this could be in their hospital room after the delivery or, at the very least, once the delivery room has been cleared.

In a prenatal setting, while ideally it should be given in the office with the mother and her partner, most often it will be delivered over the phone when the physician’s office receives the test report. Therefore, at the time of submitting the test, a date and time should be arranged so the mother can expect the call and be in a place of her choosing.

2. When: as soon as possible

In a postnatal setting, the medical team should deliver the diagnosis as soon as the place for delivering it has been established. Parents pick up on the hushed murmurings of team members as they whisper their suspicions that the child has Down syndrome.

In a prenatal setting, as just discussed, a date and time should be arranged for delivering the test results.

3. Who: the person most knowledgeable 

Who delivers the diagnosis often varies: the obstetrician, the pediatrician, the medical geneticist, the genetic counselor, the labor & delivery nurse. But who should deliver the diagnosis?

The person most knowledgeable about Down syndrome.

Understandably the parents will have questions, and therefore the person most knowledgable should be the one to answer them. However, since that person, may not be present, point number 2, timing, takes precedence over who delivers the news. But then the person most knowledgeable should speak with the parents as soon as he or she can.

Similarly, all who speak with the parents should be consistent. While parents may have a good initial experience with their OB delivering the diagnosis, the next morning the medical geneticist can be at the foot of the mother’s bed explaining how the extra chromosome likely came from her egg (as was our experience): information neither relevant at that time nor helpful.

4. To whom: ideally both parents

As important as where, when, and who delivers the diagnosis is to whom the diagnosis is delivered. Historically, the father would be called out of the room, told the news, and then he would have to share the news with his wife, with the wife associating all the grief and shock with her husband rather than with her medical provider. Over time this chauvinistic approach has decreased, though it still occurs.

Ideally, deliver the diagnosis with both parents present. It allows the parents the opportunity to have their mutual support and cuts down on the “telephone game” where information is lost in translation when relayed from one person to another.

5. What: accurate, professionally recommended information

Professional guidelines advise what information should be given:

• The National Society of Genetic Counselors has guidelines on what should be told in a prenatal and postnatal setting. These guidelines are the result of surveying what is the essential information identified by parents and medical professionals. The bullet point statements in these guidelines are what should be shared about Down syndrome.
• Written information: the NSGC has a list of approved written resources as part of its guidelines. The American College of Medical Genetics & Genomics scaled this list down to just three written resources:

1. The Lettercase book, Understanding a Down syndrome Diagnosis;
2. The American Academy of Pediatrics healthcare guidelines for Down syndrome; and,
3. The on-line resource brightertomorrows.org and its companion site, brighter-tomorrows.org, which provides on-line training for medical professionals on how to deliver the diagnosis.

The professional medical guidelines further recommend discussing three other resources:

• In a prenatal setting, all options are to be discussed, including the option of adoption, which is facilitated by the National Down Syndrome Adoption Network.
• Referral to the local Down syndrome parent support organization (recognized by ACOG, NSGC, & AAP as best practice). And,
• For those mothers who know they will continue their pregnancy, there is only one resource specifically written for them, which is also recommended by the NSGC: downsyndromepregnancy.org.

6. Why: a better flashbulb moment

This crib sheet of best recommended practices is important for medical professionals to follow for this very simple reason:

The patient will never forget receiving this diagnosis.

In 2005, Dr. Skotko published studies of moms who had received a prenatal and those that had received a postnatal diagnosis. Then, he led a team of researchers to survey best practices for delivering a prenatal and for delivering a postnatal diagnosis. From his research, mothers described receiving the diagnosis in specific, photographic detail, even decades later. Dr. Skotko described the delivery of a Down syndrome diagnosis as a “flashbulb moment” for the patient.

By following these guidelines, medical professionals can make better flashbulb moments for their patients.

Essential resources

Here’s a consolidated list of the links in this post specific to delivering a Down syndrome test result:

1. The NSGC guidelines and its 2015 fact sheet on Down syndrome.
2. The ACMG guidelines on non-invasive prenatal screening
3. Dr. Skotko’s team of researchers recommendations on delivering a prenatal and a postnatal diagnosis
4. brighter-tomorrows.org, on-line training shown by peer-review studies to improve how medical professionals deliver a Down syndrome diagnosis

Helpful pamphlets that list some of these guidelines can be found at the Down Syndrome Diagnosis Network and at Lettercase.