Aleksandra Tolczyk and Leila Hamzi DeWitt
Medical futility is often a point of debate in situations of hoping for an unlikely outcome, or a condition with a treatment that necessitates high levels of pain or discomfort. Anencephaly is generally accepted as incompatible with prolonged life, with few infants surviving into the neonatal period. Parents are typically counseled accordingly, resulting in pregnancy termination or comfort care after delivery. This case report examines the ethical considerations involved in the decision to continue life-prolonging treatment of an 8-month-old infant with anencephaly.
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Anencephaly – Diagnosis, Prognosis and Decision-Making
Anencephaly is a rare congenital neural tube defect incompatible with prolonged life without the use of life-sustaining interventions to maintain organ function and vital signs after birth. The incidence of anencephaly in the U.S. is 1 in 4,647 births, with an estimated 847 cases annually.  Cases of anencephaly and other neural tube defects have declined in the U.S. since the initiation of mandatory folic acid fortification of cereal and grains in 1998. Several studies have reported 100 percent mortality within the first year of life in children born with anencephaly, with others reporting 100 percent mortality within the first weeks of life.  Survival beyond this period requires mechanical ventilation, with the expectation that these patients will not progress developmentally. The longest reported survival of an anencephalic infant without life-sustaining modalities was 28 months, a rare exception to current literature and documented cases. 
Anencephaly is diagnosed prenatally, allowing physicians to begin parental education and provide counseling on available options. These discussions typically result in either pregnancy termination or palliative care of the newborn in the early neonatal period, with do-not-resuscitate (DNR) code status. Some parents additionally opt for organ donation. Although the data is scarce, the overall frequency of pregnancy termination following prenatal diagnosis of anencephaly ranges from 59 to 100 percent worldwide.  Due to the prognosis and high mortality rate, there is a scarcity of literature regarding care and outcomes of infants with anencephaly beyond the neonatal period and first year of life, nor is there a consensus regarding recommended course of action. Furthermore, there is no literature showing improved outcomes associated with prolonged care of anencephalic infants.
Beyond palliative care, additional care and treatment in situations of limited life expectancy is individualized largely based on the expectations and goals of the patient’s family. Common factors adding complexity to pediatric palliative care and decision-making include age, cognitive and language capacity of the patient, and parental influence. In most situations, the American Academy of Pediatrics (AAP) recommends a shared decision-making approach, involving the patient in decision-making in a way that is appropriate based on their level of cognition and understanding. 
However, the lack of developmental potential in anencephaly eliminates shared decision-making as a possibility at any point in the patient’s life, with the parent as the sole decision-maker. The Groningen Protocol was devised in the Netherlands 2002 in an attempt to create a shared decision-making protocol between parents and providers and advocate for quality of life by creating criteria for withdrawal of care in terminal pediatric patients with life-limiting conditions including anencephaly.  This was met with significant criticism. Such backlash importantly highlighted the role of parental autonomy in the decision-making process.  The AAP Section on Hospice and Palliative Medicine made a statement emphasizing the role of hospice and palliative care in working alongside families to promote quality of life.  Still no consensus or recommendations exist for when families do not wish to limit treatment to comfort care.
Ethical contention arises regarding how to proceed while both respecting familial autonomy and practicing evidence-based and ethically benevolent medicine. Through a single case, this paper examines the decision to pursue life-prolonging treatment of an anencephalic infant through a principle-based ethical approach.
The patient is an 8-month-old male with anencephaly diagnosed on prenatal ultrasound at 19 weeks gestational age (GA). He was born at 35 weeks GA via cesarean section due to poor fetal heart tones and was admitted to the NICU with minimal respiratory effort. Prior to his presentation, his care had previously been managed at the birth hospital and subsequently a second institution. Past medical history was notable for tracheostomy with ventilator dependence, ventriculoperitoneal shunt placement, gastro-jejunal tube dependence, severe developmental delay, seizures, blindness, and chronic respiratory failure. He presented with increased oxygen requirement, up to 10 liters from his baseline of 5 liters, with frequent desaturations, temperature dysregulation, and wheezing. He was admitted to the PICU for respiratory acidosis and acute on chronic hypoxic respiratory failure, and later observed for continued management of increased oxygen requirements.
The patient’s mother was at the bedside intermittently throughout his 5-week hospital stay. While demonstrating her understanding of her son’s prognosis, she expressed her wishes of pursuing all possible interventions to sustain life. Although it was unlikely that the patient was able to sense or experience pain to any degree due to the nature of his condition, the treatment team discussed with his mother that the measures he would require to be kept alive would typically be associated with a significant degree of pain and discomfort. When the patient was moved or manipulated for routine tasks such as blood draws or diaper changes, his vital signs often showed tachycardia and decreased oxygen saturation, but would typically self-resolve momentarily with cessation of the stimulus. This was interpreted by the treatment team as likely secondary to autonomic instability rather than true pain. The patient’s code status remained full code and his care team continued to use similar interventions to those used by the family at home to treat his oxygen desaturations, as requested by the mother. The mother posted on the patient’s door her own algorithm for treating the desaturations, detailing specific amounts of time before intervening, during a desaturation episode, and specific oxygen levels she used depending on the patient’s displayed oxygen saturation. She requested that the nursing staff follow her protocol.
The medical team expressed concerns about using such high levels of oxygen (up to 15 liters) to resuscitate the patient multiple times throughout the day and night, and whether such measures were in fact causing significant pain and distress. Throughout his hospitalization, concerns arose among his care team regarding the family’s goals of care and expectations of outcomes regarding the patient’s condition and quality of life. Numerous discussions were attempted with both parents to explore palliative care options. His mother participated in these discussions and expressed understanding but maintained her wish to continue the full scope of care. The patient’s father mostly declined to participate in these discussions, preferring to receive information solely from the mother due to persistent conflicts he experienced regarding his son’s prognosis with medical providers at prior institutions. Multiple medical and surgical issues arose throughout the hospitalization, and with respect to the parents’ wishes; subspecialty services were consulted and additional interventions discussed. Surgical repair of a ventral hernia was recommended due to increased risk of strangulation in the setting of his VP shunt, which prompted neurosurgical evaluation of the VP shunt.
Recommendations included conversations regarding whether the patient was a surgical candidate given his frequent desaturations and poor prognosis. On day 16 of admission, code sepsis was performed due to worsening temperature instability and desaturations in the setting of ventilator-associated tracheitis, requiring antibiotic treatment with worsening respiratory status. Ethical concerns arose among the medical team around providing an indefinitely high level of care, as no limitations had been set in terms of scope of care or time period, with an understanding that these efforts would ultimately be futile in the setting of an inevitably poor prognosis. Despite these concerns and conversations, continued treatment towards the goal of discharge was pursued based on the family’s expressed understanding and authority.
At time of discharge, the care team continued to express concerns about the safety of allowing the patient to return home in his current condition, including persistent oxygen desaturations potentially causing further impairment of neurologic status, and the likelihood that the patient could suffer an episode of sustained hypoxia causing cardiac arrest and sudden death. These possibilities were posed to the family in discussion of risks associated with discharging home. Discussion of end-of-life wishes was offered in an effort to plan for these possibilities and avoid a situation of unexpected death at home.
The patient’s mother and grandmother were present for these conversations and expressed understanding of these risks. The patient was to be cared for at home by his mother and family members, as in-home nursing agencies declined to provide services due to safety concerns regarding the level of support required and volatility of his respiratory status. The care team also raised concerns regarding the mother’s level of exhaustion and the mental and physical stress associated with providing this level of care indefinitely. She acknowledged the risks and expressed her feelings that discharge home was the best course of action for the patient and family. Resources for respite care were offered. The discharge plan was discussed and agreed upon by the primary medical team in consultation with the hospital ethics committee.
Discussion and Ethical Considerations
This case illustrates ethical challenges surrounding decision-making for pediatric patients with life-limiting conditions through a largely unprecedented presentation. Though the circumstances were unique, the ethical challenges faced by the care team and the family in this case can be applied to many scenarios involving medical futility and shared decision-making. The challenges faced in coming to an agreement regarding the overall goals of care for this patient can be understood through the framework of principle-based medical ethics. These principles have endured the test of time and are relied upon by the likes of physicians, ethicists, and chaplains regularly. Like many age-old codes of law, despite their universal acceptance, their interpretation will forever be a point of contention. The ethical challenges experienced by the medical team and family involved in the decision-making of this case incorporate three of the four main principles of medical ethics.
Stating that medical providers are responsible for assisting and respecting patients in making autonomous decisions regarding their own care, autonomy is central to this case.  In pediatrics, this translates to shared decision-making between the patient and the parent when possible, deferring to the parent in situations when the patient is not of appropriate age or developmental stage to participate in decision-making. In this case, the medical team acknowledged their duty to respect the authority of the patient’s mother in making decisions on behalf of her child, which became morally difficult as she continued to request aggressive medical intervention in the form of resuscitative efforts and life-sustaining treatment. The mother’s authority was often in conflict with the palliative-based measures that providers felt to be more appropriate based on their own medical expertise and threshold of comfort in providing treatments that ultimately would not change the patient’s outcome.
Having encountered multiple hospital systems and medical teams, the patient’s mother felt that her authority had been threatened previously, and she clearly stated that her decision-making must be prioritized moving forward in order for the treatment team to be allowed to participate in caring for her son. The patient’s mother posting and requesting that her home treatment algorithm be followed was an expression of her authority and a test of whether it would be respected. This specific gesture was respected by the care team to an extent but eventually called into question for numerous reasons including the patient’s comfort, and the liability of the providers and staff in following protocols incongruent with the standard of care for a patient not under comfort-care protocols.
In pediatrics, authority is often afforded to parents of medically complex patients, who frequently dedicate their lives to providing much of their own at-home care and therefore gain a certain level of informal expertise. Parents in these situations may be uncomfortable relinquishing much of their authority when they enter the hospital setting and entrust medical providers to provide the best care of their child, which may conflict with the care that was provided at home. This is also challenging for providers who navigate leadership of difficult decisions when they feel the patient’s best interest is not being served.
Beneficence, or acting in the patient’s best interest by providing care in which the benefit to the patient’s well-being outweighs any negative aspects, is the second ethical principle highlighted in this case.  Both the medical providers and the patient’s mother felt they were each advocating for the patient’s best interests through their actions and goals. Per the medical team, beneficence was best served through easing the patient’s suffering and minimizing futile resuscitative efforts, prompting multiple attempts to encourage the family to pursue palliative-driven care. These attempts were in direct contrast to the mother’s perspective of what was best, exhausting all medical actions to prolong the patient’s life. The conflicting ideas of beneficence in this case present a disagreement of quality versus quantity of sustained life.
The principle of nonmaleficence complements the principle of beneficence in that while providing interventions that are of benefit to the patient, providers must not take measures that cause undue harm, and the risks of harm must not outweigh the potential benefit of a given procedure or treatment.  Physicians have historically acknowledged this tenet of medical ethics by way of the Hippocratic Oath. In preserving the duty of nonmaleficence in this case, the medical team’s attempts to minimize painful resuscitative treatment conflicted with the mother’s attempts to prevent what she saw as an untimely death, illustrating the divisive perspectives on the definition of harm. The subjectivity of the phrase ‘do no harm’ allows both parties to believe they are acting benevolently while still being at odds with each other.
Considering the above ethical issues in context of this case, and after multiple discussions with the care team, the patient’s mother, and the ethics committee, it was ultimately decided that advocating for the patient in this scenario was equivalent to advocating for the patient’s mother. Respecting the mother’s authority as a proxy for patient autonomy was necessary to form a productive and beneficial patient-provider relationship, and to maintain involvement in the patient’s care. Shifting goals as a medical team to equip his mother with the necessary information, resources, options, and time to make an informed and autonomous decision was the best way to advocate for the patient’s best interest. The mother’s goal of continuing to prolong her child’s life and care for him at home, and the medical team’s new goal of providing safe and appropriate levels of care in the hospital setting as well as allowing the patient to be discharged home with an informed plan of care in place, were ultimately both met.
With the rapid growth of technology and innovation comes the increasing ability to care for medically complex children at a higher level and for longer periods of time. This medical achievement will come with a level of moral distress among the providers involved in the challenging decisions regarding the benefit versus futility of care of these patients. This case was discussed at the hospital’s Schwartz Rounds presentation, during which multidisciplinary providers shared their experience and perspectives on the case and the moral challenges faced by all. Such discussions and debriefings help improve communication and foster community support among providers and care team members. Though each case will be different and uniquely challenging, documenting and discussing medically rare, ethically difficult situations and their outcomes in the context of established ethical principles is important in order to help establish precedent, inform how decisions are made, and impact how to best care for these complex patients as we collectively care for more of them.
Aleksandra Tolczyk, MS-4
Wake Forest School of Medicine
Leila Hamzi DeWitt, DO, MA
Wake Forest School of Medicine
Department of Pediatrics
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