Delivering a Down syndrome diagnosis: the importance of where over when

Two recent articles on how a Down syndrome diagnosis was delivered to parents made me remember an important point about delivering the diagnosis: the importance of where over when.

Last week, Amy Julia Becker, a mom of three whose first-born has Down syndrome, shared what praying with Penny has taught her. Included in the column, was how Penny’s diagnosis was delivered:

Her delivery seemed unremarkable. … For two hours, we experienced the euphoria of many a new parent—the relief that labor and delivery were over, the giddy excitement about what would come, the childlike wonder that we had been entrusted with caring for another human being.

But then a nurse called my husband out of the room, and when he returned, his eyes were brimming. “The doctors think Penny has Down syndrome,” he said.

Several mothers’ stories on how they received the diagnosis also were shared last week in a column by Maureen Wallace. One echoed our experience, where, even before the mother had seen her newborn daughter, a neonatal nurse said:

I wanted to tell you her vitals are fine but based on our physical assessment, we suspect she has Down syndrome.

These personal accounts demonstrated something about the way a diagnosis is being delivered that is both positive, but can be improved upon.

In his research on how mothers were given the diagnosis in a postnatal setting, Dr. Brian Skotko heard from many mothers about the awkward silence, averted glances, and hushed comments made when the medical team suspected a newborn had Down syndrome. It seemed a generational-thing where the fathers would be told outside the presence of the mother, but Amy Julia’s experience shows this practice is still done in some cases.

For children school-age or younger, it seems the medical community has been instructed on delivering the diagnosis sooner rather than later. This avoids the “knowing” feeling parents have when the staff avoids sharing what they suspect. This earlier-than-later approach is one that is recommended and seems to have gained traction. But, what the stories from the recent articles show, and what research backs up, is the importance of where over when.

Through his research, first individually, and then leading a team that surveyed studies, Dr. Skotko has presented on this importance of where over when. In a postnatal setting, delivering the diagnosis in an environment where the parents can openly express emotion in a private setting is recommended.

When I presented at the World Down Syndrome Congress in Dublin, Ireland, Dr. Patricia Jackson, a fellow panel member, had done a separate study similar to that of Dr. Skotko’s, and she too stressed the need to, when available, be in a private space and then deliver the diagnosis.

In our personal experience, this did not happen first–instead the nurse blurted out as she was leaving the delivery room that she suspected our daughter had Down syndrome–but then the delivering obstetrician cleared the delivery room and went through the physical signs they noticed, giving us that private space to process the diagnosis.

This recommendation is not limited to just a postnatal setting.

Dr. Skotko and the research team he led also made recommendations on how best to deliver a diagnosis prenatally. After hearing stories of women receiving the results of their prenatal test while in a grocery store and not being able to find their way out for half-an-hour, or receiving the results while driving and having to pull over because they couldn’t remember where they were headed, the recommendations also address where and when for delivering a prenatal diagnosis. Instead of the test results being delivered randomly, whenever the doctor’s office receives them and wherever the mother happens to be, it is recommended that parents, if the results can’t be delivered in person, to then establish a pre-arranged time for the doctor’s office to call with the test results. This allows a mother to have her partner present (another recommended best practice) and be in a space of their choosing so they can process the results.

These recommendations were made before NIPS was introduced into the prenatal testing options a mother could choose from. Because of NIPS’ high detection rate, fewer women are having invasive testing–relying on the NIPS result as close enough that they do not want to risk a miscarriage to know definitively. This is holding true for mothers who decide to continue a pregnancy after a Down syndrome diagnosis, as well. Therefore, the importance of where over when should still apply when delivering NIPS results.

When accepting NIPS testing, just as when a mother accepts invasive testing, establishing an agreed upon time for the test results to be delivered would allow mothers to receive the news in a place and at a time when they can process it, without risk of being disoriented while driving or having to turn to some pressing work matter.

What was your experience? Would it have been helpful if establishing a private place to deliver the diagnosis had taken priority over when the diagnosis was delivered?