Physicians & Medical Professionals
M R Mercurio
Authors and Disclosures
Posted: 01/12/2011; J Perinatol. 2010;31(1):1-9. © 2010 Nature Publishing Group
Case No. 1: Trisomy 13 and Ventricular Septal Defect
A 2300-gram male infant (‘Daniel’) was born at 38 weeks gestation to a 36-year-old woman with two other living children. Prenatal studies revealed Trisomy 13 and a large ventricular septal defect (VSD). Parents were counseled at length regarding the very poor prognosis, including likelihood of death in infancy. They were offered termination of the pregnancy but declined. He did well at delivery, but was noted to be hypotonic, in addition to physical appearance consistent with the diagnosis of Trisomy 13, and was sent to the NICU for observation and care.
For the first several days of hospitalization Daniel was noted to be stable in room air, with no other major anomalies, but required feeding via a naso-gastric tube due to a poor suck reflex. Cardiac ultrasound confirmed a large VSD. He remained in the NICU, and oral feeding slowly improved over the next 4 weeks. By 4 weeks of age he was feeding nearly entirely by mouth, but then began to show early signs of pulmonary edema/congestive heart failure, presumed due to the VSD. It was explained to the parents that progression of his pulmonary edema and respiratory distress would most likely gradually lead to respiratory failure and death, and this was often how patients with Trisomy 13 died. The parents, who had studied this issue on the internet, asked to speak with a pediatric cardio-thoracic surgeon, and after that meeting requested that Daniel’s VSD be surgically repaired. The surgeon expressed a willingness to do it, but given Daniel’s underlying condition, and the fact that a child with Trisomy 13 had never undergone cardiac surgery in this institution before, the physicians involved were unsure whether it was appropriate, and requested a consultation with the PEC.
Pediatric Ethics Committee Meeting and Ethical Considerations
The PEC met with the parents, cardiologist, surgeon, neonatologist, NICU nurse and geneticist. The case was presented, and the question posed to the committee was: Should Daniel undergo VSD repair in accordance with his parents’ wishes? All were in agreement that the timing of the surgery, if it was to be done at all, would be left to the medical and surgical teams depending on his clinical course. But should it be done at all? The following points were discussed and considered in the recommendation.
The standard of care at this institution was to provide children with Trisomy 13 with comfort measures only and allow them to die without surgery or any intensive measures such as mechanical ventilation. For many questions in medicine, the standard of care is often used to determine the best course of action, but a good physician will always want to know upon what that standard is based. It might be based on several large controlled trials, on sound physiological reasoning in the absence of trials, on anecdotal experience, or simply on habit. Good medical practice requires knowing the strength of the evidence and arguments that support any standard, and basing one’s degree of flexibility with regard to the standard on the strength of its foundation. A similar point could be made with regard to ethical questions in medicine: our obligation to adhere to a standard of care should be greatly informed by the strength of the data and the ethical reasoning that support that standard.
The first thing to be clarified should be the data. ECs are generally dependent on the clinicians who bring a case before them to provide unbiased current data. Unless the EC happens to have a member with particular expertise in the subject in question, or they choose to do exhaustive research before the consultation (which is generally impractical), their deliberations, and ultimately their recommendation, can only be as good as the data provided. Though not generally the case, it has occurred that clinicians have presented incorrect or outdated outcome information. In this case, all of the physicians agreed that the vast majority of infants with Trisomy 13 die within the first year, often from untreated cardiac disease, sometimes from other causes. Furthermore, though some have survived for many years, all survivors are left with a profound level of disability.
With regard to the probability of early death, however, there is an important problem with the data: the risk of self-fulfilling prophecy. Most die a very early death, but that may be at least in part because efforts are generally not made to save them. Of course, this perpetuates the high early mortality, which is then used to justify non-treatment. What would happen to such children, the committee asked, if more efforts such as VSD repair were made to save them? The cardiologist reported that cardiac surgery has been carried out on some children with Trisomy 13, and data suggest that life expectancy can sometimes be extended, which seemed to make sense.[19, 20] However, as consistently aggressive care is relatively new and not widespread, it remains unclear what the life expectancy under such circumstances would be. Mortality data were thus understood to be generally grim but uncertain, and the discussion turned to predicted morbidity.
Exactly how severe is the disability among survivors? The parents reported information obtained from the internet, primarily parent support group sites, suggesting that some of these children seem to be aware of their surroundings, and capable of feeling pleasure and happiness. They are also said to be able to interact with others, including some rudimentary speech. Clearly great caution is advised when obtaining medical information from the internet, and the EC is well advised to seek information from an experienced and unbiased individual; they turned in this case to the geneticist for confirmation of these facts. She reported that though she had heard parents say their child with Trisomy 13 could speak, she herself had never heard it. When asked if such children are aware and able to interact with their environment, she said that some parents would say yes, but she herself was not sure.
The ethical reasoning applied in this case was based primarily on two fundamental principles: parental authority and patient’s best interest. In our society parents are generally accorded the right to decide what is done to their children, including medical matters. The long history of this right cannot be adequately covered in this essay, but suffice it to say that it is widely accepted, and is not refuted here. With regard to major medical decisions, the American Academy of Pediatrics Committee on Bioethics Guidelines on Forgoing Life-sustaining Medical Treatment has rightly stated that in difficult ethical matters the values and judgments of the parents should generally be honored. However, in that same document they acknowledge that medical professionals should seek to override parental wishes when their request is clearly opposed to the child’s best interest. Thus, parental authority is seen as strong, but not absolute, and may be limited by an understanding of the child’s best interest, which is assessed by comparing the anticipated benefits and burdens of the proposed treatment.
This is not to say that for a parental decision to be supported it must always be clearly consistent with the child’s best interest, but rather that there is some lower threshold (that is, clearly opposed to the child’s best interest) below which the physician should no longer support the decision. Indeed, many ethicists have argued that the harm principle, rather than the best interest standard, best describes obligations to the pediatric patient. As explained by Diekema: ‘The real question is not so much about identifying which medical alternative represents the best interest of the child, but rather about identifying a harm threshold below which parental decisions will not be tolerated.' In Diekema’s article, however, application of the harm principle is recommended to determine when clinicians or the state should override parental choice for cases in which parents refuse recommended medical treatment, which was not the issue here. Whether it is also applicable to parental requests or demands for treatment about which the clinical team is opposed or unsure, is possible but less clear. That question was not addressed in this consultation, and is not addressed in this essay.
In this case, the PEC felt that the surgery should not be withheld simply because that had been the standard of care, and should not be provided simply because the parents had requested it. In the final analysis, the recommendation regarding whether the procedure should be done would hinge on an assessment of the child’s best interest, by weighing the potential benefits and burdens (harm) of the requested treatment.
The potential benefit of surgery would be the chance of longer life. Whatever pleasures Daniel might experience in the future could be seen as a benefit of the surgery. That might be as simple as the pleasure of human touch, laughter or a full stomach. The degree to which he might experience such pleasures was not clear to the committee members even after hearing from all involved. In addition, the surgeon noted that, in his opinion, congestive heart failure was a very difficult way to die, and the surgery might reduce the total amount of suffering Daniel would experience. The cardiologist agreed, stating that VSD repair could even be described as optimizing ‘comfort care.’ The parents also felt that his life would be a benefit to them and to their two older children, giving them an opportunity to give love and learn to care for someone less fortunate. The committee took note of this, but understood the need to be cautious about considering the benefits to others in the family. On that question there is a difference of opinion among ethicists: some feel the best interest standard requires weighing the benefits and burdens to the patient only, others believe that the interests of others affected by the decision, particularly the family, should also be taken into account.
The potential burdens of the surgery included pain, risk of complications and the ongoing burdens of severe disability for the time his life may be extended by the procedure. The potential burdens on the siblings and on society were also raised, but again the committee considered these with caution for the reason cited above. The physicians felt the pain could be kept to a minimum with proper anesthesia/analgesia, and the risk of surgical complications, including death, was very low. The primary burden to the child, then, seemed to be the burden of the ongoing disability from potentially prolonging his life.
Next the social setting and family situation was discussed. The parents were married and highly educated. There were two other healthy children, ages 5 and 8 years. The mother was at home with the children, the father was self-employed, and they were financially very well off. They would easily be able to pay for help with Daniel and the other children as needed. When asked if they felt having Daniel at home might be a burden to the other children, they acknowledged there could be some difficulties, but also felt there could be some advantages to them in learning to love and care for someone like Daniel. The parents talked at length about how they felt this could be a good thing for their family, but in any case they felt the surgery and prolonging his life as much as possible was good for Daniel. They seemed to understand the idea of patient’s best interest, heard the concerns of the physicians, in particular the geneticist, about the severity of the disability, and nevertheless felt it was in his best interest to have the surgery. They reported having done extensive research on Trisomy 13 and the availability of cardiac surgery, and informed the committee that if they could not get the surgery done at this center they would find another that would do it, but preferred to have it done here, and by this surgeon.
The Chair of the PEC then asked everyone else present if they wished to express an opinion as to whether the surgery should be provided, based at least on the arguments and considerations put forth at the meeting. The surgeon felt it should; others were unsure or declined to give an opinion. No one voiced opposition to the surgery. It is possible that some were opposed to the surgery but felt uncomfortable saying so in the presence of others, including the parents. One important purpose of the meeting is to give everyone involved the opportunity to hear the opinions and reasoning of the others, and it is important that an environment be established that is open to honest discourse. For this reason parents should be encouraged to invite others of their choosing (for example, grandparents, friends, clergy) as support, and all should be encouraged to speak freely. Also, the Chair of the committee may for certain cases choose to offer some individuals the opportunity to share their opinion in private. In this case, no one involved voiced opposition to the surgery, at the meeting or afterward.
Immediately after this meeting the members of the PEC met alone and reviewed the case. This second, separate session offers EC members an opportunity before making a recommendation to share further impressions, concerns and opinions with one another that they may not have wished to share in the larger meeting.
The question of improper use of resources was raised, in terms of the surgery and hospitalization, and the ongoing services that would be required should Daniel survive long-term. This is a reasonable consideration, often raised under the heading of distributive justice, the fair allocation of scarce resources. Surely this money could be used to help far more children, who could appreciate a far greater benefit. Would the procedure have been a consideration if the parents had fewer financial resources? Should parental wealth be a consideration in such decisions? The point here, the committee determined, was that very often patients in this hospital are provided with resources that could perhaps have been allocated to help far more children, but they generally receive those resources based on an assessment of the needs and interest of the patient in question. It did not seem fair to single out this child for a different approach. Should a different, broad-based approach be chosen by the medical profession or society for all such patients, it might lead to a different conclusion, but unless and until that occurs the PEC felt that it would not be fair to apply the patient’s best interest standard inconsistently.
Most often PEC… consults involve a conflict or disagreement between two parties, commonly parents and staff. In this case, it was noted, the parents wanted the procedure, the surgeon was willing to provide it, and no one had voiced opposition. Thus, it might seem that there was no real need for the PEC, but that is not the case. Put simply, the fact that a physician and parents agree on a course of action does not insure that the course is ethically advisable, or even permissible. The role of the committee is to work through their reasoning with them, in light of important ethical considerations and relevant past cases. And, ultimately, if the committee concludes that the parents and staff have together reached an inappropriate decision, that conclusion needs to be shared and explained.
Recall that in the Baby Doe case in 1982, a physician and parents agreed that it was best to withhold lifesaving surgery from a child with Trisomy 21 due to the predicted disability, and the child was allowed to die. Though this was consistent with the standard of care at that time, in retrospect was felt to be a poor decision. The degree of disability had been exaggerated, and it was almost certainly in that child’s best interest to be kept alive. It was largely in response to that case that ECs were recommended to provide guidance with such decisions, and have now become nearly ubiquitous in US hospitals. For Daniel, it was considered that the opposite mistake could be made. That is, the parents and physician might agree to keep a child alive even though it would be opposed to his best interest to do so. Parent/physician agreement did not guarantee an ethically acceptable answer, and further discussion and analysis was appropriate.
Surrogate decision-makers, in this case the parents, are expected to decide based on their assessment of the patient’s best interest, and there seemed to be no compelling evidence that these parents were doing otherwise. In addition, the medical team is expected to support the parental decision whenever feasible, unless it is clearly opposed to the child’s interests. To the PEC, both the potential benefits and potential burdens/harms seemed difficult to discern. How much benefit or burden would he appreciate from being kept alive longer? Would he be aware of his surroundings? Would he be suffering? Had the committee felt that the burdens clearly outweighed the benefits, they would have recommended against the surgery. Though many felt that burdens may well outweigh the benefits, none believed it was clearly so. Given that lack of clarity, it was ultimately agreed to defer to the parents’ assessment of the child’s interests.
For this case, despite the well-established standard to the contrary, the PEC felt it was ethically permissible to provide the surgery for Daniel. Moreover, given that reasonably informed parents clearly wanted it, and the surgeon clearly wanted to do it, and the PEC had been asked to make a recommendation, the committee recommended that it be done.
The surgery was performed without incident, and Daniel is now 4 years old, living at home with his family. The question of whether cardiac surgery or other intensive care measures should be offered to parents of patients with Trisomy 13 remains controversial within this institution and beyond.