Janvier A, Farlow B, Barrington KJ. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet. 2016: This new article draws on the results of the on-line survey that Annie and Barb performed with Ben Wilfond. It is an exploration of parental hopes, medical interventions, and factors associated with survival among a cohort of families who had a live-born child with trisomy 13 or trisomy 18.
We found that the hopes of parents in this group fitted a number of very frequent themes, they hoped to meet their child alive, to take them home, to be a family, and to give their child a good life.
We also found that about 100% of parents recall receiving a recommendation soon after the diagnosis to pursue comfort care, and most of those with antenatal diagnosis had a recommendation to terminate the pregnancy. Some of those recommendations were quite directive, and a few of the remarks made by medical professional that the parents quoted are shockingly inappropriate.
One of the comparisons that we made, that was quite a powerful predictor of outcomes, in fact the most powerful predictor of outcomes, was when the diagnosis was made. Babies with an antenatal diagnosis had fewer interventions, were much more likely to die on the first postnatal day (compared to almost none of the postnatal diagnoses), were much less likely to go home with their family, and had a very restricted approach to comfort care, often without oxygen or tube feeding. Those diagnosed after birth were very likely to be able to go home (87%) and had more interventions, even when the decision was made for comfort care.
Which suggests a number of things, first of all, many children with these diagnoses survive to discharge if they have some medical interventions immediately after birth; there appears to be decreased respiratory drive after birth that tends to resolve quickly if they get a little support, so CPAP, non-invasive ventilation, or invasive ventilation may be an approach that gets the babies through the first couple of days; caffeine might also help to shorten or avoid mechanical respiratory support.
Secondly, palliative care means a lot of different things, so much that maybe it has become a term that means nothing, some children in palliative care mode had cardiac surgery, presumably with the idea that they would be more comfortable afterward, which I think may well be the right thing for those babies, but is it really palliative care? Or is it just good medicine?
Many children who received comfort care survived to discharge, mostly those who had a postnatal diagnosis, but also some of those also who had a prenatal diagnosis. Part of our planning with these families, even when comfort care is decided, should be to consider how to facilitate a discharge home.
This study adds the decision-making part of the picture that you can’t get from registry or population based studies. Although this is a self-selected group the results overall for survival don’t look that much different from the population based study I posted about recently, with much longer survival among those who opt for some active medical intervention than we are used to seeing in the older literature. Most children who have surgery will be able to be discharged home.
Neonatal Research 
“Babies with an antenatal diagnosis had fewer interventions, were much more likely to die on the first postnatal day (compared to almost none of the postnatal diagnoses), … Those diagnosed after birth were very likely to be able to go home (87%) and had more interventions,..” Perhaps this is because infants who could be diagnosed antenatally had more severe malformations that were obvious on ultrasound, whereas infants diagnosed postnatally did not have as many features (if the median age at diagnosis is 6 days surely it was not an obvious diagnosis)? Is this just an indicator of illness severity? Adjustment for presence of a malformation (cerebral/cardiac) and not the severity of such malformation may be an issue.
That’s a good thought, but our data don’t support the conclusion: most of the babies in the antenatal diagnosis group who died on day 1 were not reported to have serious cardiac or other malformations. Most heart disease (among both antenatal and postnatal diagnosis groups) was VSDs, and, as you know, even very severe heart disease doesn’t usually lead to death on day 1. Serious malformations that could lead to very early death, such as diaphragmatic hernias, were uncommon and didn’t account for the discrepancies in timing of death.
The age of diagnosis was the age at which the diagnosis was confirmed, so needed time for genetic/chromosomal analysis. For some families that required an old-fashioned karyotype, which might take several days, for others a FISH could give results much more quickly. We don’t know when the diagnosis was first considered, just when the parents were given the news that it was confirmed.
Thank you for the clarification. This is an useful study.
Hello Dr. Barrington,
I used to get regular research updates but not anymore.
Could you please add me again to your mailing list?
Thank you
Ruby Gupta
rgupta@mcw.edu
Neonatologist at Medical college of Wisconsin
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I tried to input your email address into the system, and it told me you are already subscribed. Maybe you have the emails blocked, or maybe its just been a quiet period. But not to worry, there is some good stuff coming out!