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An Infant With Trisomy 18 and a Ventricular Septal Defect

Annie Janvier, Felix Okah, Barbara Farlow and John D. Lantos


Pediatrics 2011;127;754; originally published online March 14, 2011;
DOI: 10.1542/peds.2010-1971

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

PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly


publication, it has been published continuously since 1948. PEDIATRICS is owned,
published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point
Boulevard, Elk Grove Village, Illinois, 60007. Copyright 2011 by the American Academy
of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.
An Infant With Trisomy 18 and a Ventricular Septal
Defect
AUTHORS: Annie Janvier, MD, PhD,a,b Felix Okah, MD,c,d
abstract Barbara Farlow, BS, MBAe and John D. Lantos, MDc,f
aDepartment of Pediatrics, University of Montreal, Montreal,
Decisions for critically ill infants with trisomy 18 raise thorny issues Quebec, Canada; bDivision of Neonatology, Hospital Saint Justine,
about values, futility, the burdens of treatment, cost-effectiveness, and Montreal, Quebec, Canada; cDepartment of Pediatrics, University
justice. We presented the case of an infant with trisomy 18 to 2 neona- of Missouri, Kansas City, Missouri; dDepartment of Neonatology
and fChildrens Mercy Hospital Bioethics Center, Childrens
tologists with experience in clinical ethics, Annie Janvier and Felix
Mercy Hospital, Kansas City, Missouri; and edeVeber Institute for
Okah, and to a parent, Barbara Farlow. They do not agree about the Bioethics and Social Research (Advisor), Toronto, Ontario,
right thing to do. Pediatrics 2011;127:754759 Canada
ABBREVIATION
CLINICAL ETHICS CASE REPORT: PART I VSDventricular septal defect
Infant Jones was born at 39 weeks gestation with a prenatal diagnosis www.pediatrics.org/cgi/doi/10.1542/peds.2010-1971
of trisomy 18 diagnosed by amniocentesis. At birth, he was noted to doi:10.1542/peds.2010-1971
have a murmur and was subsequently diagnosed with large perimem- Accepted for publication Nov 11, 2010
branous ventricular septal defect (VSD). Electroencephalography re- Address correspondence to John D. Lantos, MD, Childrens
vealed seizure activity. He was placed on phenobarbital. Ultrasound of Mercy Bioethics Center, Childrens Mercy Hospital, 2401 Gillham
his head showed prominent extra-axial uid but no evidence of a bleed. Rd, Kansas City, MO 64108. E-mail: jlantos@cmh.edu
The parents received counseling from the genetics department to in- PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).
form them that most infants with trisomy 18 do not survive their rst Copyright 2011 by the American Academy of Pediatrics
birthday. They were told that some infants survive longer but with FINANCIAL DISCLOSURE: The authors have indicated they have
severe cognitive impairments. The palliative care team offered sup- no nancial relationships relevant to this article to disclose.
port for the parents and discussed hospice care.
Should the parents be offered heart surgery to correct the VSD?

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-

754 JANVIER et al
SPECIAL ARTICLESETHICS ROUNDS

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-

PEDIATRICS Volume 127, Number 4, April 2011 755


pice care and encourage the parents prolongation of life. Survival beyond Should life-support be withdrawn over
to go that route. the rst year of life for this child is the objection of these parents? The an-
highly unlikely. Moreover, the available swer to this question requires know-
CLINICAL ETHICS CASE REPORT: evidence would suggest that signi- ing what is in the best interest of the
PART II cant prolongation of life from surgery child and who determines it. I suspect
When medical management of VSD is unlikely, because survival statistics that parents ability to represent their
was no longer adequate to control the of infants with trisomy 18 with and childs best interests (autonomy)
symptoms of heart failure, Infant without congenital heart defects are sometimes may be compromised emo-
Jones parents wanted to pursue sur- similar. tionally. All too often, people recount
gical intervention if it would prolong Given their wish to preserve life, it sur- the stories of those families who had
and improve his quality of life. The doc- prises me that the parents were not wonderful and happy memories of the
tors tried to talk them out of it. The deterred by the possibility of a fatal short lives of their children with this
parents said that they understood that outcome during the surgery. This posi- problem. There is no study to show
their infant might not survive the sur- tion seems prima facie to be at odds how those children really felt, only
gery but that, if the doctors would not with the goal of prolonging life. What, subjective parental reports and
operate, they wanted to be transferred then, is the underlying motivation for equally inadequate information about
to another hospital and other doctors seeking risky surgery? Might guilt the families with limited psychosocial/
who would. After a multidisciplinary from bringing a child with trisomy 18 economic resources or those who
care conference, the medical and sur- into the world be driving their deci- struggled with the guilt of prolonging a
gical team agreed to the surgery. sions to do everything possible? life that was perceived to have en-
Infant Jones had a rocky postoperative The decision by the physicians to per- dured much. Who denes pain and suf-
course that was complicated by car- form surgery rather than transfer fering for the sick and developmentally
diac arrest and arrhythmia and re- the patient to a different institution limited patient? Even cognitively intact
quired resuscitation and reopening of raises some ethical questions. They persons view situations differently and
the chest. Electroencephalography had deemed surgery to be unneces- exhibit signicant differences in what
performed after these events revealed sary and dangerous, so was the deci- will be tolerated for the sake of survival.
generalized slowing with poor neuro- sion to perform it nancial or altruis- It is difcult to see how articially sup-
logic prognosis. An MRI of his brain tic? Were the physicians concerned porting life under these circum-
showed marked generalized cerebral about the potential lost income or stances can be in the best interest of
volume loss and encephalomalacia about lower skills of the alternative the child or society. It is unfortunate
consistent with hypoxic brain injury. group of physicians? that the child is not in a position to
The patient was extubated on two oc- It is not surprising that the postopera- articulate that, and those who are
casions. Both times, he quickly went tive course was problematic. The ensu- making these decisions (parents and
into respiratory failure and was rein- ing complications have signicantly health care providers) possess biases
tubated. During this critical period, the diminished the prospects of short- from their own life experiences. Fur-
ICU team tried to convince the parents term survival and increased the thermore, such invasive and intensive
to withdraw life support. The parents chances of severe additional neuro- support of life may be potentially
would not agree. They were constantly cognitive impairment in the unlikely harmful, because it prolongs suffering
at his bedside, praying for his recovery. event of survival. and wastes health care resources.
Is further care futile? Should he be The parents refusal to withdraw life Nonetheless, even under such difcult
extubated over the objections of his support is understandable in the con- circumstances, keeping channels of
parents? text of wanting everything done and communication open often results in
their earlier ability to reverse the deci- collaboration between parents and the
Felix Okah sions of the medical team. It is impor- medical team and a solution that is
The parents wanted surgical repair of tant at this point to explore the par- mutually acceptable.
the VSD for their son if it would prolong ents motivation and reasons for their
his life. There ought to have been dis- position. Do they still represent the Barbara Farlow
cussion about what prolongation of best interests of their child, or are they Consent rights of loving and commit-
life means in this context and what protecting their own personal/emo- ted parents such as these should not
costs are worth the risk of the dened tional interests? be removed.

756 JANVIER et al
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-

PEDIATRICS Volume 127, Number 4, April 2011 757


ready limited neurodevelopmental po- In this case, that was not so. It did not modated this request, which reveals
tential. They ought also to be engaged sound like Infant Jones existence was that the parents were realistic about
in recurring discussions about the full of pain and suffering. Pain is easy to their sons limitations from the start,
changing needs and challenges asso- treat in an intensive care setting. because they have clearly satised
ciated with growth and what care pro- The only reservation I would have their commitment to care for him and
viders may or may not do in the event about this case is one of resource allo- even taken active steps that will make
of signicant changes in health status cation. Physicians are often stuck in him stronger and likely live longer.
such as cardiorespiratory failure for the conicting role of doing the best Therefore, one must question the qual-
any reason. These discussions should for patients while using societies re- ity of the experience of the childs life
be entered into his medical records, sources judiciously. These two can be and conclude it to be much more favor-
and the decisions should be available conicting and bring about value judg- able than the medical literature might
to parents and other care providers in ments. When one considers resource suggest. It is also noteworthy that de-
a written document. allocation, the principle of justice de- spite being off to a rocky start, it seems
This case captures the dilemma faced by mands that similar patients be treated that Infant Jones has been quite
parents and health care providers when similarly. Patients who are expected to healthy and has not spent a lot of time
dealing with situations that historically die or have severe neurodevelopmen- in the hospital.
have a poor outcome and for which lim- tal sequelae (similar to those that chil- This child had everything going
ited evidence exists for what the best dren with trisomy 18 have) should all against him. He seemed to be a bad
path of care should be. Both parents and be treated in the same manner. So, to case of trisomy 18, and the situation
health care providers need to gure out decide how to treat Infant Jones, we looked grim after the cardiac sur-
what might be in the best interest of the need to look at how we treat patients gery. Yet, he survived, is doing rea-
child rather than that of the parents and with severe Alzheimer disease, multi- sonably well, and is clearly loved by
the health care system. During these dis- ple strokes, asphyxia, or brain trauma. his family. He has not been an exces-
cussions, it is apparent that there is no These cases are frequent. Generally, sive burden to the health care sys-
consensus for what quality of life means we defer to families in these cases. On tem. It is interesting that the doctors
for the child. If our experience with cog- the other hand, a case like Infant turned out to be wrong about his
nitively intact persons is anything to go Jones is rare. It would not be just in chance of survival and the parents
by, quality of life will differ with each our health care system to impose hos- turned out to be right, which gives
child and ostensibly could differ from the pital policies and restrictions speci- credence to the often-heard sugges-
parents and health care providers un- cally for children with trisomy 18 when tion that futility assessments might
derstanding of an acceptable quality of policies for other patients with similar be a self-fullling prophecy. Perhaps
life for the child. There is obviously no severe limitations are nonexisting. If doctors should reconsider their
easy answer, and as with most human these policies existed for older pa- long-held belief that trisomy 18 is
interactions, honest respectful com- tients, than the resource-allocation synonymous with medical futility.
munication will be the route for provid- question would be a fair one to con-
ing a best outcome with the individ- sider. Infant Jones is not likely to bank- EDITORS COMMENTS
ual case. rupt our fragile health care budget,
Cases of trisomy 13 or 18 highlight
but the medical ICUs are.
an area of deep disagreement. Most
Annie Janvier parents would not want an infant
Barbara Farlow
Most infants with trisomy 18 die. Doctors with these conditions. Many of them
and nurses get used to it; we know the I believe the parents have revealed are grateful for the prenatal diagno-
routine, the quiet moves, the memory that they are rational and realistic by sis that allows them to terminate an
box to ll with pieces of hair and foot- agreeing to palliative care support, affected pregnancy. Others choose a
prints, and the ritual with the nal phys- given the expected life span of a child different course and either forego
ical examination. Parents do not get with trisomy 18. prenatal diagnosis or, as in this case,
used to it. They have to live with the deci- It is noteworthy that after spending use the information to make decisions
sions that they make and their memo- more than a year with a complex child, about obstetric and neonatal care.
ries forever. So, I generally defer to the the parents sought treatment to better Doctors are similarly deeply divided;
parents wishes unless I think that their nourish their son and help him to some feel that aggressive treatment is
requests will cause harm for the infant. breathe. The medical system accom- futile and should not be offered, and

758 JANVIER et al
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

SMARTPHONES AND PRIVACY: Whenever I log onto a website, download a new


application for my smartphone, or get a statement in the mail from my bank, I
am irked by the claims that the companies are busy protecting my privacy.
Almost everyone claims strong privacy protection for the consumer. However, it
would appear the strong protection means different things to different people
or organizations. Take for instance applications for smartphones. As reported
in The Wall Street Journal (December 17, 2010: Tech), downloaded applications
are sharing a wealth of personal information about the user with the outside
world. To learn what information was shared, investigators from The Wall Street
Journal intercepted and recorded the data transmitted from 50 commonly used
iPhone applications and 50 popular applications using Googles Android oper-
ating system. More than half of all applications transmitted the phones unique
device ID number, which cannot be changed or blocked, to other companies.
Almost half transmitted the phones location. Fewer sent age, gender, and other
personal information to outsiders. All this was without users awareness or
consent. One popular text messaging application for the iPhone sent the
phones unique ID number to eight advertising companies and the phones zip
code, along with the users age and gender, to two. A popular music application
common to both user platforms sent age, gender, location and phone identiers
to various advertising networks. Unfortunately, while there are ways to avoid
tracking from a personal computer, opting out of tracking from a smartphone
is almost impossible. Consumers dont have many protections. Almost half the
applications dont even have a written privacy statement on their website or
within their application. The companies getting information bluntly state they
monitor smartphone user data as much as possible. The companies want to
know which applications are downloaded and how much time is spent on an
application, and the depth to which the application is explored. As the two most
popular platforms for smartphones, the iPhone and Android, also generate the
most money from ad revenue, setting rules for transmission of personal data is
likely to be inherently challenging. What can consumers do? Alas, not much at
this time. Just know that while you may be storing lots of private information on
your smartphone, your phone is not a silent partner.
Noted by WVR, MD

PEDIATRICS Volume 127, Number 4, April 2011 759


An Infant With Trisomy 18 and a Ventricular Septal Defect
Annie Janvier, Felix Okah, Barbara Farlow and John D. Lantos
Pediatrics 2011;127;754; originally published online March 14, 2011;
DOI: 10.1542/peds.2010-1971
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