Disagreement About Surgical Intervention in Trisomy 18

Julia was born vaginally at term to a 28-year-old mother. The pregnancy was complicated by intrauterine growth restriction and multiple fetal anomalies. Trisomy 18 was confirmed by fluorescence in situ hybridization. The perinatologist shared this diagnosis with parents, providing them with the option of terminating the pregnancy. They declined. In extensive antenatal counseling, the parents expressed their desire for their daughter to “live as long as possible” and requested resuscitation in the delivery room. They hoped that Julia would “beat the odds.”

At delivery, Julia was limp, apneic, and cyanotic, requiring intubation, positive pressure ventilation, and prostaglandins. An echocardiogram revealed a ventricular septal defect with outlet extension and a dysplastic aortic valve. Aortic valvuloplasty via cardiac catheterization was performed at 2 weeks of life, after which the prostaglandins were successfully stopped. Julia failed several extubation attempts and remained on the ventilator. She required progressively escalating ventilatory support.

Julia had feeding intolerance and required parenteral nutrition. She received multiple courses of antibiotics because of fever. She required multiple blood transfusions for anemia. She remained on mechanical ventilation with frequent episodes of agitation, bradycardia, and desaturation. For comfort, medications for pain and sedation were added and escalated for tolerance. Julia’s parents continued to express hopes that Julia would improve. They wanted to “give Julia time to see what she is capable of” and emphasized their desire for quality time with their daughter.

After Julia was in the NICU for ∼2 months, discussions began to center on next steps in preparation for chronic intensive care, including surgical procedures such as gastrostomy tube (G-tube) placement, Nissen fundoplication for severe gastroesophageal reflux, and tracheostomy. However, after consultation, the pediatric surgical and anesthesia physicians were unwilling to perform these procedures because of their belief that surgery had an unacceptable risk/benefit ratio. They also expressed concern about Julia’s pain and suffering. The Ethical Advisory Committee was consulted to address the following ethical question: Is declining to perform the tracheostomy and/or G-tube and Nissen fundoplication or anesthesia for these procedures justifiable on the basis of risk/benefit assessment and concerns about pain and suffering? How should this clinical disagreement about appropriate intervention be resolved?

Many infants with trisomy 18 have received intensive care and surgeries aimed to sustain life.¹  Despite these interventions, mortality remains high. Still, there have been enough successful treatments that trisomy 18 can no longer be considered a “lethal” condition.¹  Some authors have contended that this shift toward a more active therapeutic approach is a result of “ceding to parental authority” and can result in the provision of “futile care.”²  Others argue that, given the clinical uncertainty and heterogenous perceptions of quality of life, a shared decision-making model between parents and medical providers is optimal and ethically justifiable.^3,4 

The law in the State of Maryland, where we practice, supports the idea that doctors can refuse to provide care that they believe to be inappropriate. The Maryland Health Care Decisions Act (2019) states the following:

Interpretation of the Health Care Decisions Act can be challenging because it requires clinical judgments that combine considerations of empirical evidence as well as personal moral values. The evidence surrounding outcomes for infants with trisomy 18 is problematic. Estimates of prognosis are based on many cases in which doctors and parents made decisions not to intervene.¹  Thus, we do not know whether intervention would have been effective. Some might consider performing a tracheostomy medically ineffective because it would not alter the pathophysiologic etiology of respiratory insufficiency, that is, the central nervous system anomalies that are associated with trisomy 18. Others may find the tracheostomy justifiable because the procedure may prevent death, or at least extend survival, by providing long-term respiratory support. It is reasonable for medical providers to be concerned with the prospect of providing intensive treatment, including surgery that produces pain and discomfort, if they believe that such treatment has no long-term benefit. The medical providers in Julia’s case may ethically object to surgical interventions for this reason.

According to a recent policy statement describing treatment in the intensive care setting, “Clinicians have an interest in not being compelled to act against their best understanding of their professional obligations.”⁶  However, a physician’s declination to perform a procedure should not preclude others from doing so, either within the same institution or after transfer of care. The Maryland Health Care Decisions Act states that, “If a health care provider intends not to comply with the instruction of a surrogate or agent, the provider must inform the person giving the instruction of that decision and inform the person that he or she may request a transfer to another health care provider.”⁵ 

Ideally, when diagnosis occurs prenatally, parental values can be explored during prenatal counseling with pediatric providers. When proposed treatments are deemed by providers to be futile or potentially inappropriate, ethical consultation could be pursued to resolve conflicts. Transfer of obstetric care is an option if providers have ethical objections to parental preferences regarding life-sustaining procedures after birth. It is critical to understand the short- and long-term goals of the family in the context of their religious, ethnic, and/or cultural values. If parents and providers remain at an impasse, every effort should be made to facilitate transfer to a provider willing to comply with the wishes of the family. Given the changing paradigm regarding active intervention for infants with this condition, finding such providers may not be difficult.

Julia’s initial procedure, a catheterization procedure, was intentionally undertaken after discussion with her parents to advance the possibility that she might extubate and avoid further mechanical ventilation and life-sustaining medical treatment (LSMT). Months passed, but she never breathed on her own and remained mechanically ventilated, and her underlying cardiac malformations and associated comorbidities limited her from ever becoming free of intensive care, the original shared goal of her parents and care team.

When a tracheostomy, Nissen fundoplication, and G-tube were requested, the pediatric anesthesia team and surgeons felt these procedures would subject Julia to additional risk, pain, suffering, and potential complications. As recently described by Kukora et al,⁷  the decision of whether a patient is a surgical candidate is multifaceted. Surgeons and anesthesiologists are uniquely qualified to assess candidacy for surgery.⁷  Although this may limit parental authority, “[p]arental permission does not legitimize an operation that cannot achieve an intended goal” in the surgeon’s mind.⁷  For this reason, declining to perform surgery may be justifiable. Although it had been previously demonstrated that Julia could be safely anesthetized from a strictly technical standpoint, disagreement with additional procedures was informed by the anesthesia teams’ experience and sound ethical and medical principles and was individualized to her unique pathophysiologic conditions. The anesthesia team at the treating hospital conscientiously objected, as did several other nearby children’s hospitals. Ultimately, from my perspective, Julia did not benefit from these additional procedures. She struggled more than she had when she was comfortably intubated, ventilated, nasogastrically fed, and swaddled in a bassinette in the NICU. Anesthesiologists and surgeons have a moral obligation to the infant to do no harm and relieve suffering. Not offering invasive procedures may, under individualized circumstances like Julia’s, be right, just, and ethically appropriate.

The procedures in question for infant Julia (tracheostomy, G-tube placement, and Nissen fundoplication) are commonly performed on severely impaired infants preparing for chronic intensive care. These operations are clearly beneficial for some patients. I suspect that the surgeons and anesthesiologists in this case have performed such procedures for other severely impaired infants with a similarly poor prognosis for long-term survival. The question in this case, then, is whether the prognosis for infants with trisomy 18 is so clearly dismal that treatment refusal is ethically appropriate.

Doctors may be less willing to provide medical and surgical interventions for infants with trisomy 18 (and 13) than they are to provide those same interventions in cases in which infants have comparably poor cognitive function and prognoses but no chromosomal anomalies.⁸  This seems unfair. If the relevant moral factor is the chance of survival, then trisomy is only relevant if it allows a better estimate of prognosis. That does not seem to be the case. Thus, we must seek other grounds for the doctors’ conscientious objection. Each potential justification is considered in turn.

One potential justification for refusal is that to perform the surgery would be inconsistent with the current standard of care. There might be limits to the validity of such a justification based on the scientific and ethical foundations of the standard, but nevertheless, the argument could be made. Standard of care could be described as what most qualified physicians in a community or subspecialty would do, and it commonly implies a consensus. When many currently practicing physicians were trained, patients with trisomy 18 were generally not offered critical support or surgical intervention. It could reasonably be stated that, for these physicians, this was the standard of care at one point. However, practice over the past 2 decades has clearly changed. In 2012, Nelson et al⁹  reported >3000 major surgical procedures on children with trisomy 18 over 5 years in a large group of US hospitals. Over this same time period, many pediatricians have advocated for parental choice in the setting of trisomy 18.^8,10–12  Although there may remain physicians who choose not to offer surgical interventions for such children, that can no longer be claimed as a clear consensus or standard of care. Given such disagreement within the profession, it might be argued that there is no present standard, but it can no longer reasonably be argued that the standard of care is to never provide such surgery.

Assume, then, that surgery should be and will be made available, today, to many patients with trisomy 18 whose parents want such surgery. That does not mean that all surgeries should be offered to every patient. Instead, an individualized approach based on the clinical details and parental preferences is advisable.¹⁰  Treatment that is appropriate for some infants is not necessarily appropriate for every infant. In an individualized approach, doctors should consider anticipated benefits and burdens, primarily for Julia, but also for her family. Her parents have asked for more time. They clearly value her ongoing life. Doctors should initiate discussions that include accurate clinical and prognostic information, an explanation of the risks and benefits of the surgery, and explicit articulation of the parents’ goals, values, and fears. Only then should doctors and parents make decisions together about what is best. For some physicians, that discussion might have included advising against ongoing LSMT.

If the surgeons and anesthesiologists believe that Julia is likely to die in surgery, they would be justified in refusing to operate solely because the risks of surgery outweigh the benefits. From the facts as presented, however, that does not seem to be the case. Although the mortality risk may be higher for Julia than for many other infants undergoing surgery, survival seems much more likely than not. Any increased risk of intraoperative mortality may weigh heavily on a surgeon considering surgery, and the responsibility the surgeon perceives in the event of such a death could be an understandably important factor in their thinking. The ethical analysis, however, should be based on the balance of perceived risks and benefits to the patient. Unless intraoperative death is likely, a surgeon or anesthesiologist refusing on the basis of a benefit versus burden analysis for the patient would essentially be saying that the pain associated with surgery would outweigh the benefit of prolonging life. Adequate anesthesia and pain control should minimize these burdens, as they do for other patients. Moreover, the result of such procedures is generally less pain and discomfort, not more, compared with ongoing LSMT without them. An objection based on pain and suffering might still hold up, however, if prolonging life with LSMT is more of a burden than a benefit to the patient. This might be the case if the patient were in severe pain that could not be adequately controlled, without a reasonable possibility of improvement. There is no reason to believe that to be the case for Julia. Furthermore, if high quality palliative treatment is available, then this should rarely be the case.

Claims about burden often rely on assessment of quality of life. In the most extreme cases, this might be valid, but physicians should be wary of making assessments of the quality of life of those with severe disabilities, or the value of such a life. Physicians often have different values than parents and patients. Is the quality of a person’s life so poor that, on balance, they are better off dead? This assessment can only reflect deeply held personal values. Reasonable people often disagree. Deference to the beliefs and values of parents is appropriate in the face of such disagreement.

Moreover, for this child, who is already being kept alive by LSMT, the relevant question is whether these surgeries will increase the burdensomeness of her ongoing treatment. That seems unlikely. In the setting of severe gastroesophageal reflux and chronic mechanical ventilation, the quality of her life could well be improved by surgery. For these reasons, refusal based on pain and suffering (and benefit versus burden analysis) does not appear to hold up.

So, if it is standard care these days to offer such treatment (or, at least, it is not standard of care to withhold it), and if the treatment is not likely to be unduly painful or burdensome, then the only remaining rationale for refusing that was presented for consideration would be the physicians’ conscientious objection to such treatment. Conscientious objection warrants serious consideration. Physicians are not, nor should they be, solely the agents of a family’s instructions. The physician should serve as a protector of what they see as the child’s interests. In that role, the physician has the right and, in rare situations, the obligation to refuse to abide by parental preferences for intervention. The conversation, however, should not stop there. It is incumbent on the physician to present a moral justification for the refusal based on something more than how they were taught or how they practiced in the past. The surgeons in this case seem to have done so, citing standard of care and pain and suffering. Their obligation goes further, however. It requires examination of relevant clinical factors and knowledge of current and relevant data. Is there evidence of pain? Have all efforts to address it been attempted? Is there evidence that the requested interventions will worsen the pain and suffering? What is the likelihood of operative mortality, assuming all efforts are made? Claims of conscience should be examined with these clinical considerations, and the previously discussed counter-arguments should be openly discussed.

There remain at least 3 additional obligations for the physician who claims conscientious objection: introspection, humility, and an appreciation that other professionals may disagree. The preconceived notions, or biases, of some physicians regarding disability can surely influence their decisions. Physicians needs to be honest with themselves as to how this might affect judgment. Moreover, humility requires an openness to the possibility that one’s long-standing practice might not be best. Medical progress and moral progress are not possible without it. Finally, conscientious objection in many cases may absolve a physician of responsibility for providing treatment. It does not absolve them of an obligation to transfer the patient’s care to another physician who does not share their qualms.

Physicians should not conflate inadvisable acts with those that are ethically impermissible or conscience claims with evidence-based assessments of benefits and burdens. There are interventions that physicians might advise against, but nevertheless should be willing to provide if requested by informed parents. They become impermissible only when the burdens to the child clearly and significantly outweigh the potential benefits. The tracheostomy, G-tube, and Nissen, in the setting of ongoing LSMT, do not appear to meet that standard. Thus, the refusal is not justified on the grounds stated, even if clinicians find that choice inadvisable.

Six years ago, we discovered our daughter had trisomy 18 during a first trimester ultrasound. A later anatomy screen and subsequent pediatric cardiology consult revealed tetralogy of Fallot, clenched hands, and delayed growth by 2 weeks. My husband and I both work in health care. We read the literature and could clearly understand the ramifications of a child with trisomy 18. We were told that this condition was not compatible with life. We were offered and declined termination of pregnancy.

We had wonderful counseling with a palliative care specialist. We visited with the neonatologist at our community hospital. We created a tentative birth plan and an equally tentative life plan for our daughter. We extensively researched what each scenario would look like with her if we chose life-saving measures. We learned what the common anomalies were and brainstormed about what we could and could not do for our daughter. Our goal was to bring her home and love her without much medical intervention. We had a hospice team counsel us, and then were under their care for the remainder of our daughter’s life.

We learned 4 key lessons during our daughter's time with us. The first was that trisomy 18 is not always incompatible with life. Some infants survive the delivery process and are able to leave their hospital with their families. Before our daughter was born, I became aware of children living with trisomy 18 through contacts provided by our pediatric hospice practice and through social media. Second, we learned that much that is written in the peer-reviewed medical literature on this condition is outdated and inaccurate. Certainly, trisomy 18 should no longer be described as a “lethal” disorder. However, this terminology was used when we met with our high-risk obstetrician and genetic counselor. Although our goal always was to bring our daughter home, we were counseled that this was unlikely, and she would likely not survive to delivery or beyond. Although our family decided against any invasive procedures during the early postnatal period, such interventions are available and may extend life. Third, social media and the ability to interact with other families give a different and much more nuanced picture of what life is like for these children and their families than does the peer-reviewed medical literature. Finally, we came to understand how subjective and variable the perception of the quality of life experienced by children with trisomy 18 can be. On the basis of these lessons, we developed a deeply held conviction that health care decisions should lie primarily with the person affected or their guardians.

Our experience shaped my approach to counseling patients and families who face choices similar to the ones that we faced. I am more tolerant of parents whose choices are different from my own. Julia’s parents, for example, chose an approach to treatment that was the complete opposite of our choice. Her parents clearly desired that all measures be taken to save her life. The team resuscitated her on day one, and this set the tone for the rest of her care.

Conscientious objection should not be considered in this case. When we discussed our plans about our daughter with the neonatologist at our delivering hospital, the physician expertly detailed her experience with trisomy 18. She then added that she had grown up with a sibling with Down Syndrome and that that child “was and still is a burden for the family.” We had already made our decision regarding palliative care for our child, but if we hadn’t, how would her subjective opinion have colored our decision for our child’s life? How is one human’s religious, historical, or personal opinion more important than another?

Many people discount children with trisomy 18 and their quality of life, especially when their life is short. Our daughter lived for 135 days. During that time, she had a powerful and positive effect on our family and our community. Many people told us, and we agree, that she had more of an impact on people’s lives than people who live a traditional amount of time.

Well-counseled parents do not take their decisions lightly. They must be counseled on the resources required to take care of a child with highly specialized needs. They need to fully comprehend each step of continuing medical intervention. If the health care team feels like they can get a patient through a surgery successfully, decreasing pain and suffering for that patient, the amount of days a person may ultimately live should have minimal effect on the surgical decision-making process.

At ∼4 months of age, Julia was transferred to another facility for placement of a G-tube, Nissen fundoplication, and tracheostomy. Julia’s course after surgery at the accepting facility included antibiotic treatment of postoperative cellulitis at the tracheostomy site, blood transfusions, and feeding intolerance requiring bowel rest and intravenous nutrition. After one month, she was transferred back to her birth hospital.

Julia’s subsequent hospital course at her birth hospital over ∼2 months was complicated again by multiple episodes of feeding intolerance requiring intravenous therapy placement, fluids, and parenteral nutrition. She developed recurrent, severe, refractory febrile episodes in the setting of rhinovirus/enterovirus infection, requiring scheduled antipyretic medication and a cooling blanket for 48 hours. Julia remained on mechanical ventilation. She developed episodes of agitation, bradycardia, and desaturation that progressively increased in frequency and severity. During one of the more severe episodes, she did not respond to prolonged bag-mask ventilation. As determined by previous conversation with her parents, chest compressions were not performed, and cardiac medications were not given. Julia was held first by her providers and then her parents, on arrival. She died at 7 months of life.

The paradigm shift in the treatment of trisomy 13 and 18 offers some insights into the ways that medicine is changing. First, prenatal diagnosis allows choices to be made about termination of pregnancy. It is fair to assume that, with more widespread prenatal testing, many parents who would not want life-sustaining treatment will choose to terminate their pregnancies. Thus, among infants born with trisomy 13 or 18, we should assume that more and more parents will have decided that they want life-sustaining treatment. Furthermore, parents will likely have accessed digital media resources and be aware of the possibility that their infant can survive for years and be accepted as a loved and loving family member. Given these realities, it seems difficult to ethically justify a physician’s refusal to provide life-sustaining treatment to such infants. I suspect that conflicts like the one in this case will soon disappear and that all doctors will offer life-sustaining treatment to infants with trisomy 13 and 18 if, after counseling, parents request such treatment. They should.

G-tube

gastrostomy tube

LSMT

life-sustaining medical treatment