New Guidelines on Trisomy 13 and 18 Promote Nuanced Care Decisions

On July 21, the American Academy for Pediatrics (AAP) released new landmark recommendations for the care of children with trisomy 13 and trisomy 18, in which babies are born with a third copy of chromosome 13 or 18. Historically, trisomy 13 and 18 have been framed as lethal, or diagnoses “incompatible with life.” In recent years, multiple studies have shown that long-term survival of children with trisomy 13 and 18 is more common than previously believed. This has led to debate in the medical community regarding the application of life-sustaining interventions like cardiac surgery and the placement of tracheostomy tubes.  

On July 31, The New York Times Magazine published a feature by investigative reporter and medical doctor Sheri Fink, who has followed the families of children with trisomy 18 for a decade.  The poignant story follows the family of Noah, a young boy with trisomy 18, and their experience with his diagnosis. It explores the five-year-old’s tumultuous medical history, the evolution of the medical literature on the treatment of trisomy 18, and the value of Noah’s life despite the unlikelihood of his survival. Noah’s medical needs are covered in depth, and it is made clear that he has a positive life and impact on the people around him. This is consistent with the experiences of other families who have children with trisomy 18, who almost unanimously report that these children’s lives are happy and improve their and their other children’s lives. 

The AAP’s new recommendations establish a handful of new principles for trisomy 13 and trisomy 18 care. The guidance states:

Although comfort-focused care is a very important option for postnatal care that should be offered and explained to families, it is no longer ethical to neglect to discuss other options, given that these are not universally lethal disorders.

They affirm that care should be tailored to each individual child’s case, and that “parents of infants with T13/T18 should be informed of the availability of appropriately individualized life-sustaining care and counseled in a fashion similar to other genetic syndromes and complex medical conditions.”  

The AAP’s focus on challenging the conception of trisomy 13 and trisomy 18 as uniformly lethal reflects a substantial shift in medical opinion, particularly towards centering parents’ desires in the decision-making process in medically complex situations. The 1982 Baby Doe case, in which doctors unsuccessfully attempted to provide medical care for a baby with Down Syndrome against the desires of the parents, set legal precedent for the best-interest standard in the treatment of children with disabilities. The best- interest standard aims to maximize benefit and minimize harm for the child, sometimes limiting parental control to withhold treatments. The Baby Doe Law includes exceptions for situations in which treatment is “virtually futile,” a category to which babies with trisomy 18 have often been considered to belong. 

Many have challenged this categorization, arguing that trisomy 18 survival rates serve as a  self-fulfilling prophecy. As a result of low survival rates, life-sustaining interventions are often withheld, which results in a lower survival rate that is used to justify withholding interventions from other children. Additionally, decision-making processes and the language used to discuss options with parents often are based on assumptions about quality of life in the case of future neurodevelopmental disability. These assumptions conflate lethality with a subjective analysis of quality of life that does not reflect the positive experiences of families to these children. Families often feel as though options for life-sustaining interventions are being withheld from them based on the diagnosis of trisomy 18. Some providers report not discussing options like cardiac surgery based on the assumption that the intervention would be futile.   

Discussions of care plans in trisomy 18 patients raise a complex, deeply necessary question: what is the value of a short life? Importantly, how does a system designed to extend lifespan grapple with an existence that occurs in the context of a shortened life?  

While describing her experience weighing which interventions to pursue for Noah, his mother Jacqueline said, “We want everything to be algorithmic in medicine, and it’s just not. It’s messy, and it’s complicated.”  The range of long-term outcomes of individuals with trisomy 18 shows the vast array of experiences that any given child with trisomy 18 could have, and the AAP’s guidelines specify that medicine has not reached a complete understanding of every factor that impacts trisomy 18 outcomes.  

It is crucial to not reduce trisomy 18 down to the statistics that have historically characterized the diagnosis. Rather, discussions surrounding life-sustaining and palliative care should be tailored to each individual child’s situation. The AAP’s recommendations state that it is imperative for families to be assured that:

their infants have not been excluded from desired information as a result of biased opinions about future disability, outdated approaches to T13/T18, or what some parents perceive to be discrimination against their infants on the basis of arbitrary rules because of the genetic diagnosis.

If each person will one day die, what length of time dictates that someone was compatible with the state of living? Acute fetal disorders are spoken about as if they are problems which are occurring to a patient and should be fixed. A baby with congenital heart disease and not a trisomy 18 diagnosis is treated as someone that has had a medical complication occur to them. A baby with trisomy 18, being someone with a chronic and terminal diagnosis, is spoken of as if it is them that is wrong— as if the genetic condition is a failing of their being. If our medical and social support systems were better tailored to care for disabled lives, how could the perceptions of these children continue to evolve? 

Jacqueline reports that Noah’s at-home healthcare bill totals about $300,000 annually, a cost that many families could not meet. Recent cuts to Medicaid, which pays for about half of Noah’s care, will make this even less feasible for many families. Disparities in access to treatment also complicate this inequity. Already, families with resources travel to “trisomy-friendly” hospitals where their children are more likely to receive treatment. To combat this, the AAP recommends that interventions like cardiac surgery should be performed as is consistent with the hospital’s institutional standards that would be applied to any other patient with congenital heart disease. As funding for Medicaid and Medicare programs decreases, closures and cuts to services, particularly in rural hospitals, will continue to affect the level of care that many families are capable of accessing.  

Amid the resurgence of eugenic rhetoric in the U.S., Noah’s story brings light to the value of disabled lives. The AAP’s new recommendations for treatment of trisomy 13 and trisomy 18 are representative of a shift in medical opinion towards the acknowledgement of this value. The Support Organization for Trisomy, or SOFT, in their press release on the AAP’s care recommendations described the impact by saying, “This AAP guidance marks not an end, but a new beginning in ensuring every child with trisomy 13 or trisomy 18 receives individualized and compassionate care.” Equitable and holistic approaches to genetic counseling and care plans are indicative of a desire to center the wishes and experiences of the families of children with trisomy 13 and trisomy 18, instead of imposing generalized quality of life assumptions to these children based solely on these diagnoses. 

Matteo Zumbano is supported by Collective Power for Reproductive Justice.