The Drawbacks of a Prenatal Diagnosis

Yesterday I read some articles published in the American Journal of Medical Genetics. These were sent to me by a lady on the Rare Trisomy Parents Facebook group in response to some questions I had posted. As one of the co-authors and collaborators of these and other studies (not to mention the mother of a trisomy 13 daughter), Barb is kind of a go-to person on the parent page. I so appreciated the information she sent me. The studies were quite thorough and well-presented, with findings related to concrete statistics as well as open-ended input regarding parents' experiences and emotions. In this blog post, I want to highlight some specific information from an article titled "Parental Hopes, Interventions, and Survival of Neonates with Trisomy 13 and Trisomy 18" (full citation follows at the end of the post).

I sat down with a hot drink and highlighter in hand to carefully read the pages I had printed. I confess I was not prepared for what I felt was the most stunning finding of all. See what you think after reading this paragraph:

"The single most important factor independently related to mortality before going home or before one year, even when correcting for all other factors (including congenital anomalies, interventions, and palliative care), was the presence of a prenatal diagnosis." 

A prenatal diagnosis?! Something I have been thankful for, the one thing we DO know with certainty--the knowledge during pregnancy that our daughter has full trisomy 18--that knowledge actually could have a negative effect?!

Wow. And yet, when I consider the words of the NICU doctor with whom I had a consultation, it completely makes sense. Hang with me and follow this train of thought: Parents, trusting health care professionals, receive information that may or may not be current...filtered through lenses of personal beliefs...relying on grim statistics that ignore (or are ignorant of) any positive outcomes...and under the influence of a variety within the health care field, accept sentiments that become a self-fulfilling prophecy and act accordingly.

The vast differences in outcomes and care plans for children with a prenatal vs. a postnatal diagnosis showed up in several ways. For those who had a prenatal diagnosis, the study found that parents have similar hopes; in fact, our personal answers fit right in with the general consensus of those who chose to carry their babies to term: "They hope to meet their child alive, take their child home, be a family and give their child a good life."

So what did medical providers recommend to these parents whose hopes are outlined thus?

"...the recommendations parents had from medical providers were homogeneous: comfort care at birth with the plan of not prolonging life was recommended to all parents."

Referring to other medical articles/resources, the authors of this study noted that these recommendations were probably based solely on the chromosomal diagnosis, as evidenced by many position statements, hospital policies and authors who consider that interventions for these conditions are futile. (There's that word again! "Futile." Used multiple times by the NICU doctor with whom I spoke.)

Postnatal diagnoses for the respondents in the study came an average of 6 days after birth. So any interventions came as a result of medical personnel doing their jobs:

"Children with a postnatal diagnosis received ventilator support according to their respiratory status only (and not related to decision-making or genetic label)."

Next, there was a clear difference even in what constituted "palliative care" for babies with a prenatal vs. postnatal diagnosis.

"It seems that palliative care, for children with prenatal diagnosis, is directed to a goal of having as short a survival as possible, with medications being prepared even before delivery. Giving the child an optimal death seemed to be the goal of palliative care after a prenatal diagnosis of trisomy 13 or 18."

On the other hand:

"For children with postnatal diagnosis, palliative care may involve numerous different neonatal interventions...[to include] transfusion for weakness and inability to feed, tube feeds for comfort, CPAP for dyspnea, surgical closure of meningomyelocele, surgery for omphalocele, ventriculo-peritoneal shunt, and even 'cardiac surgery for comfort' (symptomatic child with a VSD). It is likely that many pediatricians would not describe such interventions as palliative."

There is certainly a lot more I could write or quote, but I think you get the general idea. Having a prenatal diagnosis can actually be a lot more harmful than being blissfully unaware of a chromosomal issue until after the baby arrives and makes his or her needs known.

So...what does this mean for us as a family? Further, what does it mean for YOU, perhaps a friend of our family, or even a random stranger who stumbled upon this humble blog entry? Here are some things I've been pondering...

First, as a parent of a baby girl with a prenatal diagnosis of full trisomy 18, I feel extremely grateful to be acting on the offensive instead of the defensive. While so much is out of our control, and though many things are uncertain about Verity's physical and mental status, simply KNOWING that any medical providers we encounter at delivery are likely going to have similar biases going into L&D with us helps us prepare to communicate firmly and effectively.

Second, as I read more of how other parents dealt with decision-making and care plans for their children, I feel much comfort in the fact that Ted and I are in agreement with each other, and also the fact that our "game plan" looks pretty much like what I see outlined in the report:

"Decisions were influenced by the state of the child and whether he was vigorous or weak with parents in general not wanting to impose undue suffering. Parents of almost half the children discharged on comfort care later decided to consider surgical interventions, because their child exceeded expectations."

In the absence of any concrete information at this time, we have simply said that we will wait and see what Verity needs when she needs it. As our genetic counselor told us, "Verity herself will let us know what she needs when she's born!" We plan to give her whatever support she needs, particularly help with respiration and feeding, as those are common issues. Anything that will not cause her undue discomfort but enhance her ability to breathe and receive nourishment--that's a given. That's our first plan of action. And then we take one day at a time and see how she's doing.

Now...what can all of this mean for YOU--and bless you, if you are still reading! Well, I can only encourage you to be willing to share information as you have the opportunity. Many health care providers are stuck in the "dark ages" when it comes to a diagnosis such as trisomy 13 or 18. And since these are fairly rare issues, it stands to reason that the average parent will know very little as well. Maybe someday you will be in the position of sharing information with a distraught couple who needs to know truth?

"Based on our findings and the current literature, if a baby is born near term, with a weight above 2.5kg, without a complex congenital anomaly, the chances of survival to discharge and to one year of age are significant. Our data about ventilator support and early survival are important. Poor respiratory drive immediately after birth is common. This support can often be removed after a short time and allow survival to go home. Sometimes, prolonged survival occurs, especially in neonates without complex cardiac anomalies or other significant adverse associated diagnoses. Infants with a prenatal diagnosis generally do not receive ventilator support, unless parents decide for interventions before birth."

Verity seems to fit the description of a trisomy 18 baby who may very well "exceed expectations." She does not have any complex cardiac anomalies or other "significant adverse associated diagnoses." It makes me wonder how many other trisomy 18 babies might have stood a chance at beating the odds and allowing their parents more time to spend with them on earth...if only they had had the opportunity for care before receiving a diagnosis. As the article queried, "It is important to examine decisions to withhold/withdraw interventions and whether they are in the best interest of neonates and whether our goal for these children is a good death, or is it a good life?"

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NOTE: This post refers to and quotes the following article, noted in italic text throughout the post:

Janvier A, Farlow B, Barrington KJ. 2016. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet Part C Semin Med Genet 999C:1-9.