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The online version of this article, along with updated information and services, is
located on the World Wide Web at:
http://pediatrics.aappublications.org/content/127/4/754.full.html
Annie Janvier
Every fetus or child with trisomy 18 is different; some die in utero,
others cannot tolerate labor, others die at birth despite maximal ther-
apy, and still others survive for years without intensive care. Many
parents who receive a prenatal diagnosis of trisomy 18 choose to
terminate their pregnancy. Parents who choose to continue the preg-
nancy may do so for different reasons. What were and are the parents
expectations and goals for their son? Did they expect him to die in
utero? Did they oppose abortion but desire only comfort care at birth?
If so, I would support their decision and not give an extensive menu of
every possible intervention their son could have. If they did want to
pursue life-prolonging interventions, I would explore their current un-
derstandings. What do they know about the VSD and different treat-
ment options?
The discussion may be complex. VSD surgery does not usually need
to be performed in the rst weeks of life. Neonates with VSD are
rarely in serious heart failure. Instead, infants with a VSD can usu-
ally be managed medically for at least a couple of weeks, if not
months.
What are the risks of VSD surgery? For children without trisomy 18, the
mortality rate is 2% to 3%. The surgery, of course, requires intuba-
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tion, cardiopulmonary bypass, surgery that are packed with grieving friends cide to continue the pregnancy. Even
by an expert team, and admission to and community members. If so, they without an abortion, two-thirds of fe-
the ICU with gradual reduction in tech- may have reasonably concluded that tuses with trisomy 18 die in utero.1
nologic intervention. Presumably, for a children with trisomy 18 can provide Ninety percent of live-born infants die
fragile child, the risks of surgery are something essential and important to in the rst year of life. The mortality
higher, but we do not know how much those who love them. The parents rate is higher for boys than for girls.
higher. We need to realizeand com- probably do not consider their child to So, the odds are not good for this little
municatethe limits of our knowl- be a trisomy 18. Instead, they proba- boy.
edge on this topic for children with tri- bly think of him as a child with a
I would need to know much more about
somy 18. We do not really know serious medical condition for whom a
the parents. Was the decision to con-
whether VSD surgery in a stable but personal assessment and plan of
tinue the pregnancy based on a per-
fragile infant with trisomy 18 actually treatment should be developed. Many
sonal religious aversion to abortion
increases or decreases his or her life pediatricians think that offering VSD
one that might not inuence postbirth
expectancy and quality of life. surgery to prolong the life of an infant
decisions about medical intervention
The alternatives to VSD surgery are with trisomy 18 is not in the best inter-
or was it acceptance of the fetus and
medical treatment, other types of ex- est of the child or a prudent use of re-
infant despite the diagnosis? I would
perimental closure of the VSD (such as sources. But, to deny parents a choice
want to know the mothers age, obstet-
the Amplatzer septal occluder), or about surgery on the basis of the doc-
ric history, and family/social history.
comfort care. Most infants in this situ- tors assessment that the childs life
Do the parents have other children at
ation (eg, trisomy 18, large VSD, heart will be short and of limited quality
would be wrong. home? What resources does this fam-
failure) will probably die with comfort ily have to support this child, who will
care and purely symptomatic treat- Love, hope, and charity are esteemed have severe developmental problems
ment, but even this is not certain (I qualities. The lives of these children if he survives beyond infancy? Infant
have an ex-patient in this category are abundant in these qualities. Re- Jones parents may be willing to ac-
who is now 4 years old). When heart sources should be considered well cept limited functioning in their child if
surgery did not exist, many children spent if they prolong the life a child he survives. It will be important to ex-
without trisomy 18 with large VSDs who lives comfortably and is loved
plore how that decision will affect the
survived, developed Eisenmenger syn- intensely.
nancial and emotional resources of
drome, and eventually died of cor pul- The option of surgery for this child the family that will be available to their
monale in their teens, 20s, or 30s. Gen- should be treated like the option of other children.
erally, children with trisomy 18 do not surgery for any other child; that is, if
My discussion with the parents would
survive to be 20 to 30 years old. Thus, there are physiologic risk factors that
focus on the dismal facts, particularly
without surgery, this infant might well make surgery unlikely to be success-
die of something other than heart fail- the fact that his male gender and the
ful, that should be explained to the par-
ure. Surgery should be discussed with electroencephalographic evidence of
ents. If the risk of surgery is deemed
these parents, but they should be in- seizures both suggest a particularly
unacceptable, surgery should not be
formed how uncertain we are about poor prognosis. His VSD, on the other
offered. However, if there is a reason-
the benets of surgical intervention. hand, probably does not inuence his
able chance that the surgery will be
chance of survival.
successful, surgery should be offered.
Barbara Farlow Parents should be counseled about the From an ethical perspective, I would
This family has had months to prepare risks and benets and be given the op- keep in mind that treatment of Infant
for the birth of the infant. During that tion of surgery or palliative care. The Jones heart defect will not likely im-
time, they have likely followed blogs or medical team should ensure that the prove his chances for long-term sur-
even met families with beautiful, parents are cognizant of the signi- vival. In that sense, it is a burdensome
happy, and intensely loved children cant challenges ahead. and costly treatment that offers little,
with trisomy 18. From these contacts, if any, benet.
they have also certainly heard about Felix Okah Therefore, I should not offer Infant
children with trisomy 18 who died Typically, when a diagnosis of trisomy Jones parents heart surgery to cor-
young. Maybe they have heard about 18 is made prenatally, as it was in this rect the VSD. I would support the rec-
funeral services for these children case, only a small minority (20%) de- ommendations for palliative and hos-
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SPECIAL ARTICLESETHICS ROUNDS
These parents are apparently willing to the ICU. That goal does not seem im- less because their infant has an ex-
make extreme sacrices in their lives to possible to reach. tra chromosome.
raise a child with severe disabilities. Infant Jones is not actively dying. It is Infant Jones might die despite inten-
There is no indication that the parents difcult to predict whether he will sur- sive care in the next few days. The most
are neglectful or actually want their vive with intensive care. The prognos- important thing now is to make sure
child to suffer discomfort for no benet. tic value of an electroencephalogram that he is not in pain or uncomfortable.
Such disagreements often reect poor and a scan are uncertain, because
communication and lack of trust. there have been no studies about im- CLINICAL ETHICS CASE REPORT:
Many parents who have infants with aging sick and less sick infants PART III
trisomies lose trust because the staff with trisomy 18. All children with tri- After much discussion, the parents
treats their infant as a trisomy 18 somy 18 have serious mental and phys- agreed that Infant Jones should be ex-
rather than as a unique child. Once ical disabilities. Infant Jones prob- tubated but not reintubated if respira-
trust is lost, it is difcult to rebuild. In lems may be more serious than usual, tory failure ensued. This time, he was
parent groups, one often hears doc- which may be what the team is focus- successfully extubated. Two weeks
tors were wrong stories. ing on. They probably think discontinu- later, he was discharged to his home
ing the respirator is in Infant Jones with palliative care support. He re-
These parents will live for the rest of
best interest and that further intensive mained stable at home but continued
their lives with the events that occur in
care is futile because it is not worth to have occasional seizures and feed-
the ensuing days or weeks. The after-
it. They may think that death is a bet- ing problems. At 18 months of age, he
math of insensitivity can destroy fami-
ter outcome than the disabled life they got a gastric feeding tube and a tra-
lies. I believe this situation needs time predict for him. Doctors are more cheostomy and returned home. He
and compassionate communication to likely to feel this way than parents, who has been gaining weight well. His par-
reach a decision that is acceptable to generally prefer life with disability ents are grateful for the care that he
them all. over death.2 received.
Annie Janvier On the other hand, Infant Jones should
not only serve his parents interests. If Felix Okah
Futility can have multiple denitions. the parents want to continue the venti- It is always a good thing when the fam-
Were there discussions before the sur- lator because their son is the only ele- ily and medical team are on the same
gery about the expectations of the par- ment in their life keeping them to- page. The parents decision reects a
ents? If the parents wanted VSD sur- gether, for example, then the childs growing understanding of their childs
gery for their son to be on his high interest needs to take priority. In that condition and an acceptance of the
schools soccer team, the VSD surgery case, his parents should be helped to fact that they may lose him at any time.
was futile in the rst place. If the par- refocus on him and his interests. The latter point is reected in their de-
ents went on the Internet and saw (or As a pragmatic matter, removing the cision to not reintubate and an accep-
met) other families who had faced sim- respirator against the parents wishes tance of palliative care support on go-
ilar challenges, with children who have is easy to write about but hard to do ing home. It is not uncommon for
survived and seem happy despite their without feeling brutal and cruel. patients who are supported long
severe disability, they might want the enough to develop independent respi-
When infants do not have trisomy 18 but
same for their child. ratory capabilities that signicantly
have a prognosis similar to Infant Jones,
Why are the parents refusing to with- we tend to defer to parents who do not change the psychosocial, but not clini-
draw life support? Perhaps they do not wish to withdraw the respirator, even if cal, circumstances. The survival of this
trust physicians. They may have been we disagree with their choices. For ex- child up to this point does not validate
told all infants with trisomy 18 die in ample, for an asphyxiated infant in Sar- any one clinical or philosophical posi-
the rst year no matter what but then nat stage 3, we would accept to continue tion and should not engender unrealis-
may have discovered that that is not intensive care and generally empathize tic expectations in the care providers.
true. They probably think continuing with the parents. I have never heard any- The family should be commended for
ongoing intensive care is in their in- body suggest withdrawing the respira- the care they have provided, given that
fants best interest. Perhaps their goal tor against parents wishes in this case. boys rarely live that long, but helped to
is to have the infant come home for a We should do the same thing in Infant understand how the ongoing seizures
short time and die there rather than in Joness case. Parents do not grieve signicantly worsen the childs al-
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SPECIAL ARTICLESETHICS ROUNDS
others defer to parents. Drs Okah and value of life, the meaning of person- likely to be of benet. The doctors in
Janvier reect this professional dis- hood, and the limits of parental and this case did the right thing: they
agreement. Ms Farlow speaks for the professional authority. Deference to worked to nd common ground. As
parents who come down on the side of parents is generally the right course often happens, the infant surprised
treatment. These cases raise the most unless the infant is clearly suffering everybody.
fundamental questions about the from ongoing treatment that is un- John Lantos, Section Editor
REFERENCES
1. Niedrist D, Riegel M, Achermann J, Schinzel A. 2. Lam HS, Wong SP, Liu FY, Wong HL, Fok TF, with a high risk of developing long-term
Survival with trisomy 18: data from Switzer- Ng PC. Attitudes toward neonatal inten- disability. Pediatrics. 2009;123(6):
land. Am J Med Genet A. 2006;140(9):952959 sive care treatment of preterm infants 15011508