The Term “Incompatible with Life” and Trisomy 18

The Term “Incompatible with Life” and Trisomy 18

“Incompatible with life” is a term any parents would dread hearing. The shock and fear and grief surrounding such a term makes its usage fraught. Parents in the Trisomy 18 community have heard this term used to label their child after a prenatal test or after a birth. But they can easily learn about children surviving Trisomy 18 within the community. And, for some parents, their children defy expectations and live years past that diagnosis. A few children live for decades beyond that label.

Many families wish to ban the term because its use denied medical treatments and a level of care routinely given to other infants. Or parents felt pressured to make particular decisions regarding their pregnancy. Others do not believe the use of “incompatible with life” is ever justified. For some parents, though, the term “incompatible with life” is accepted within the grieving process. They believe the term to be an accurate diagnosis for their child.

Discussing the term and its implications can be difficult and divisive. By doing so, we may build a consensus on not only acceptable medical terminology but the range of treatment and care appropriate for each child diagnosed with Trisomy 18.

Language affects perception. Standard treatments for heart and gastrointestinal defects are often viewed as “aggressive” for an infant diagnosed with Trisomy 18 and may not be offered. A heart condition and other treatable conditions can then become themselves lethal . So then is the untreated condition or Trisomy 18 “lethal”?

Why Trisomy 18 was categorized as lethal?

No treatment exists yet to prevent, reverse or cure the underlying genetic cause of Trisomy 18. That said, many of the complications associated with Trisomy 18 were fatal before advances in neonatal care and pediatric surgery on small infants. Historically, only comfort care was all that could be given.

As a result, Trisomy 18, Trisomy 13, anencephaly and other conditions were categorized as lethal. Very few children survived long after birth, and those that did died very young

In the 1990s, the concept of “medical futility” was extensively debated in the medical community. It was introduced as a justification for denying requests for treatments that were seen as not benefitting the patient or whose outcomes would not resolve the underlying health issues. Eventually, the topic faded because of a lack of consensus on defining a treatment as futile or what criteria should be used for judging. The arguments behind calling a treatment futile are the same arguments used to label Trisomy 18 “incompatible with life” or not offering certain treatments to children diagnosed with Trisomy 18.

What has changed for children diagnosed with Trisomy 18 and what has not?

Assisted ventilation, g-tubes, cardiac surgery, medications and other treatments can and do manage and alleviate some of the associated symptoms of Trisomy 18—if offered. Recent studies have shown that cardiac surgery cardiac surgery can effectively prevent heart-related deaths and may may extend survival in some cases.

A small percentage of infants with Trisomy 18 survive more than a year. More than half of infants born alive survive more than a week. That is a week or a month or a year of life for those infants, rather than the hours or days once predicted. Clearly some children with Trisomy 18 can and do live longer.

In spite of these advances, the term “incompatible with life” is still used in the medical community. This term negatively judges the quality of life children have with Trisomy 18 and can influence treatment. And this is why many parents and families want to ban the term.

Many medical professionals recognize that “lethal” and “incompatible with life” are biased and inaccurate as a general diagnosis. The medical community overall has moved towards complying with parents’ wishes regarding prenatal and neonatal care. But disagreement over what treatments, or if any, should be offered remains.The challenge now is communicating between medical providers and families and building a care team that works together to determine what would most help the child and family. Terms like “incompatible with life” can create distrust rather than foster the necessary relationships.

How should we discuss Trisomy 18?

Rather than a generic label, parents need to know what the chances are for survival, how severe  the symptoms are expected to be, and what the likely developmental and physical outcomes are for their individual child. They need answers to the questions they are most likely to ask after hearing a Trisomy 18 diagnosis:

1. What is Trisomy 18, and how certain is the diagnosis?
2. What are the chances of survival after birth and long term for their child?
3. What kind of treatments will be required for survival and how hard will they be on their child and their family?
4. What are the likely long-term health problems and impairments? What is the range?

 

Is there a need for any term?

Other terms have been suggested as replacements to “incompatible with life”. Some people prefer to label particular conditions as “life limiting” or “potentially lethal”. While these terms don’t deny the reality of children living with Trisomy 18, they do little to explain the range of outcomes and severity.

Is any term useful then? No term is in explaining a Trisomy 18 diagnosis to parents, but labels are used and applied in laws, court rulings and elsewhere. Texas, for example, legally allows ending a pregnancy after 20 weeks for a “severe fetal abnormality” that in a doctor’s judgment a“is incompatible with life outside the womb.”

Rather than a label, some medical professionals recommend that allowances be made for specific conditions such as anencephaly or Trisomy 18. Either way, treatment decisions could remain contentious. Choosing a term such as “life-limiting” or using a list of genetic anomalies and birth defects to restrict or allow termination or specific treatments still devalues children with particular disorders. Neither option considers the child’s unique health issues or the range of possibilities.

Informed parental choice is the best option. All parents want what is best for their child and families. If they are given the information they need, they can work with a medical team to choose what care is right for their child’s unique needs.  

 

What is the best solution for families and their children?

Children with Trisomy 18 may not survive to birth, or they may live for years. Some children have serious heart defects, apnea and feeding problems. Others do not. Trisomy 18 impacts development, so children may have widely different outcomes. Parents within the Trisomy 18 community hold differing beliefs and have dissimilar experiences. Respecting their individual choices benefits everyone.

Some consensus is needed to provide a framework for what treatments can and should be offered. More research is needed to determine what range of care is most effective especially as new treatments are developed. Research may bring additional options in the future for treating underlying causes of symptoms.  But, with parental choice as the guiding principle, families and their medical teams can develop a plan that adapts to their child’s specific needs.

Children with Trisomy 18 are family members with unique health needs. Parents in our community need accurate information and the ability to make personal decisions for their children respects the family and the child.