A study of parents of children with Down syndrome reports on their experiences with finding out the diagnosis. It finds that too many physicians still are doing it wrong.
The study is entitled: “Receiving the initial Down syndrome diagnosis: a comparison of prenatal and postnatal parent group experiences.” Parents were made aware of the study through the National Down Syndrome Congress and its affiliated local parent groups, the Down Syndrome Guild of Kansas City, Band of Angels, and the Council for Exceptional Children. The respondents were divided into two groups: those with a prenatal diagnosis (46) and those with a postnatal diagnosis (115). Here’s what the study reports these parents experienced:
Prenatal testing
Both groups were asked about their decisions to accept or forgo prenatal testing. For those who had prenatal testing, their reasons included:
- The age of the mother
- To be better prepared
For the parents who did not have prenatal testing, their reasons included:
- Avoiding worry and stress
- Avoiding the risk involved with diagnostic testing
- A test result would not affect the decision to continue the pregnancy
Reaction to diagnosis
Parents were asked about their reactions to the diagnosis.
“Grief was reported as a primary reaction to the diagnosis from parents in both the pre- and post-natal group. … Parents described having to go through the process of ‘mourning the loss of their baby.'”
Having a child to hold allowed acceptance to progress. As one mom with a prenatal diagnosis put it:
Those fears continued until minutes after I delivered her. I stared at her in awe and realized she was perfect. I felt a sense of calm at that point.
The prenatal group described knowing beforehand as a positive experience for allowing the parents to prepare for when the child arrived.
Resources for adjusting to diagnosis
The study identified three resources parents cited for progressing through the adjustment process.
Medical professionals
Were mostly not cited as a positive resource.
Parents reported having a negative experience with their medical professionals by a 2.5-to-1 ratio as compared to those parents who had a positive experience with their medical professional.
Among those in the prenatal group:
- Almost 1-in-4 had a medical professional who was insistent on terminating the pregnancy
- They reported a lack of information provided to them about Down syndrome from their medical professional
- And a lack of compassion by their medical professional
The postnatal group cited similar reasons, including a lack of compassion, being pressured to have prenatal testing, the lack of information or perceived ignorance on their physician’s part about Down syndrome, and the lack of support and low expectations for their children with Down syndrome.
For the prenatal group, only 11% reported a positive experience with their physician. Reasons for the positive experience included discussing options beyond simply terminating and providing resources immediately with the diagnosis. Only 4% of the postnatal group reported a positive experience with their medical professional in adjusting to the diagnosis.
Seeking information and support
Both groups reported seeking information about Down syndrome as a resource for adjusting to the diagnosis. These information sources included finding their local parent support organization and meeting with other parents of children with Down syndrome. One mom with a prenatal diagnosis described her realization upon finding out more about Down syndrome:
I realized I didn’t know enough about the condition and that all of preconceptions were wrong. I began to feel hopeful about my baby’s possible future.
Meeting another family was identified as having a greater impact in moving the adjustment process along. One mom with a prenatal diagnosis put it this way:
After meeting [the other family] I knew I would be able to make this work and thought it would be hard but would figure things out.
Those who reported a negative experience with seeking resources also stated there were positive aspects to these resources. A common complaint for those with a negative experience was that the materials they found were outdated.
Faith as a resource
The study identifies faith as an identified resource for 17% of the prenatal group and 20% of the postnatal. Those responding with this as a resource described their child as a “blessing” or “gift” from a higher power.
Conclusion
The study has a discussion section covering their findings and then it ends with a recommendation. In medical terms, I’ll present block quotes representative of those findings and recommendation.
Diagnosis: medical professionals, still too many of you are doing it wrong
[S]imilar to other research, how that diagnosis was delivered resulted in a very clear theme described parents in both groups, most describing negative experiences with medical professionals. … [T]he prenatal group reported slightly more negative experiences (35%) compared with the postnatal group (24%) and the differences involved primarily pressure to terminate the pregnancy for the prenatal group. Both groups reported a lack of accurate and current information about Down syndrome and little to no compassion or support from the medical professionals with whom they interacted. While this might be expected 15-20 years ago, based on the children’s ages, these parents were reporting on very recent experiences, some occurring within the past 1-2 years.
Prescription: follow what your guidelines have been telling you to do since 2007
Foremost, it is critical that medical professionals provide accurate and current information to parents facing a difficult diagnosis in a supportive and compassionate manner. The way the diagnosis is provided the parents and how they are (or are not) supported by medical professionals seems to be as important as the diagnosis itself. These early contacts may be particularly important for new parents to get resources specific to Down syndrome in the local community, like parent support groups, or other national resources that can provide information and support to parents … .
Key takeaways:
- Parents with a prenatal diagnosis valued being able to prepare for their child
- Too many of them were pressured to terminate by their physician
- Too few of them were provided accurate, up-to-date information about Down syndrome
- Too many of them did not receive the compassion they needed from their physicians
- Too often information parents found or were provided was outdated
- One of the best resources they found was meeting with another family raising a child with Down syndrome
Since prenatal testing guidelines were changed to offer it to all expectant mothers, those same guidelines recognized the need to provide information to patients about Down syndrome and that linking them up with their local parent support organization could be very helpful. The National Society for Genetic Counselors and the American Academy of Physicians in 2011 reiterated this: provide accurate written information and contact information for a local family, with the NSGC identifying approved written and on-line resources. And, in 2013, the American College of Medical Genetics and Genomics made it even simpler, identifying just three resources for physicians to provide their patients with a prenatal test result.
All of these resources are available at the Prenatal Resources tab. But, as this study shows, despite having more than half-a-decade to change their practice habits, too many physicians are still doing prenatal testing for Down syndrome wrong, and not serving their patients as their guidelines instruct.
[…] 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 […]