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Trisomy 13 and 18—Treatment Decisions in a Stable Gray Zone

Trisomy 13 and 18—Treatment Decisions in a Stable Gray Zone Thirty years ago, pediatric residents were taught that trisomy 13 and 18 were lethal congenital anomalies. Parents were told that these conditions were incompatible with life. There was a tacit consensus that life-sustaining treatment was not medically indicated.1 Clinical experience usually was consistent with this self-fulfilling prophecy. Occasionally, though, some infants with these conditions did survive. The children were invariably institutionalized and described as severely impaired.2 These case reports were considered as the rare exceptions that proved the rule. In the age of social media, however, everything changed. Parents share stories and videos, showing their happy 4- and 5-year-old children with these conditions. Survival, it turns out, is not as rare as once thought. Children who were not institutionalized looked happy, cared for, and loved. It became increasingly awkward to describe these conditions as incompatible with life to parents who had ready access to information showing that it was not true. Still, old myths die hard. Many physicians still tell parents that death is inevitable.3 Former Senator Rick Santorum has spoken about the counseling that he and his wife received about their daughter Bella, who has trisomy 13.4 After the infant spent 10 days in the neonatal intensive care unit, Bella’s condition was stable with supplemental oxygen. The parents and physicians agreed that Bella would go home and receive hospice care. The parents wanted to continue providing oxygen; the physicians wanted to discontinue it. One physician bluntly told the Santorums, “You realize that your child is going to die. You have to learn to let go.” They got the oxygen. Bella survived. A few months later, she had a viral upper respiratory tract infection that led to a respiratory arrest. Her parents provided cardiopulmonary resuscitation. Again, she survived. She is now 8 years old, off oxygen, and apparently, medically stable.5 This story illustrates how predictions of lethality become self-fulfilling prophecies. If Bella had not received supplemental oxygen or cardiopulmonary resuscitation, predictions that she would die early in life would have turned out to be true. Clearly, her chances of survival were not just a function of her underlying condition. They were also determined by the treatment she received. The study by Nelson and colleagues6 in this issue of JAMA describes survival and use of surgery in a large population-based cohort of children with trisomy 13 and 18 over a long period (21 years, until 2013) in Ontario, Canada. Of 174 children with trisomy 13, the median survival was 12.5 days; of 254 children with trisomy 18, median survival was 9 days. However, 12.9% of children with trisomy 13 and 9.8% with trisomy 18 survived to 10 years. Of children with trisomy 13, 23.6% underwent surgery with a 1-year survival after the first surgery of 70.7%, and of children with trisomy 18, 13.8% underwent surgery with a 1-year survival after the first surgery of 68.6%. The authors did not comment on how many deaths followed decisions to withhold or withdraw life-sustaining treatment. In the authors’ review of population-based studies (eTable 6 in the Supplement), it appears that survival rates are increasing for infants with trisomy 13 and 18. Thirty years ago, no reports indicated that these infants survived until age 1 year. Over the next few decades, 1-year survival rates increased to 5% to 10%. In the study by Nelson and et al,6 19.8% of infants with trisomy 13 and 12.6% of infants with trisomy 18 lived past their first birthday. As with the study by Nelson et al,6 no prior studies report the percentage of deaths that follow decisions to withhold life-sustaining treatment but, given the prevailing mindset, the number is probably high. Thus, reported rates of survival must be low estimates of the true possibility of survival. The increased survival over time is almost certainly a result of decisions to provide more treatment. Similar shifts in societal attitudes toward particular congenital conditions have occurred in the past. Pediatricians previously recommended not treating infants with trisomy 217 or myelomeningocele.8 Societal consensus regarding these conditions has shifted. It is now impermissible to withhold surgery (except in rare and complicated circumstances) from infants with these diagnoses.9 It often happens that yesterday’s moral gray zones disappear as more data elucidate that treatment is either clearly beneficial or ineffective. Will treatment decisions for infants with trisomy 13 and 18 evolve in the same way? It seems unlikely that they will or should. Instead, they are in a “stable gray zone,” in which treatment decisions are unlikely to become more clear. The response to infants with these conditions suggests important features about gray zones in neonatal bioethics that have implications for other decisions about other conditions. Three factors produce gray zones: survival, neurocognitive deficits, and the burdens of treatment. Each is important, but ethical decisions must consider all 3. If no infants with a particular condition survive, even with treatment, treatment is futile and should not be offered. Currently, few conditions fall into this category10; they would include anencephaly or birth at 21 weeks of gestation or less. Historically, it was thought that trisomy 13 and 18 belonged in this category. That belief was clearly wrong. If survival rates are high but survival is associated with severe neurocognitive deficits, treatment is not ethically obligatory. In such situations, the key questions focus on the likelihood and the severity of deficits. All infants with trisomy 21 will have neurocognitive deficits, but those deficits are not so severe as to justify withholding most life-sustaining treatments. The deficits are more severe in trisomy 13 and 18, severe enough to make withholding of treatment ethically justifiable. The third factor is the burden of treatment. If treatment is long, complex, painful, and expensive, it is less likely to be considered obligatory. Today, many physicians argue that the burdens of 3 cardiac operations, along with the guarded prognosis for survival, justify withholding surgery for infants with hypoplastic left heart syndrome.11 Consideration of these 3 factors suggests the reasons trisomy 13 and 18 will remain in the gray zone. Although survival rates are improving, most infants are still likely to die before their first birthday. More data on survival might shift survival curves upwards but it is likely that, even with treatment, mortality rates will remain high. All infants with these conditions have severe neurocognitive impairment. There is no treatment for the underlying disease, only treatment for the associated medical complications. In some cases, the treatment is not particularly burdensome; yet, other infants may require complex surgery and prolonged intensive care.12 The concept of quality of life is too vague and subjective to be helpful as a criterion for deciding about the appropriateness of treatment. No one can know with certainty what any infant is thinking, feeling, or experiencing, but what is observed can be interpreted. Children with trisomy 13 and 18 smile and laugh. They are not in pain. They give and receive love. These factors suggest that their subjective quality of life is not so poor that life-prolonging treatment should not be offered. Generally, the phrase quality of life is misused as a synonym for physical or neurological impairment. But if impairment is to be discussed, accurate terminology should be used. Some infants and children can have severe impairments and still have an excellent quality of life.13 One of the features of a gray zone is that different parents will make different decisions about life-sustaining treatment. Such situations raise the question of whether individuals or society can or should tolerate moral variation. Is it acceptable that some infants will receive life-prolonging medical and surgical treatments while other infants with the same condition and prognosis will be allowed to die? If not, then all gray zones evolve into sharp distinctions between black and white. If so, the criteria previously described, imprecise as they may be, should be the basis for defining gray zones that may remain stable. If survival rates are low but not too low, neurocognitive impairment is severe but not total, and treatment is not so burdensome as to be inhumane, then parental values should drive decisions. Back to top Article Information Corresponding Author: John Lantos, MD, Children’s Mercy Hospital, University of Missouri–Kansas City, 2401 Gillham Rd, Kansas City, MO 64108 (jlantos@cmh.edu). Conflict of Interest Disclosures: The author has completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported. References 1. McGraw MP, Perlman JM. Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics. 2008;121(6):1106-1110.PubMedGoogle ScholarCrossref 2. Smith A, Silink M, Ruxton T. Trisomy 18 in an 11 year old girl. J Ment Defic Res. 1978;22(4):277-286.PubMedGoogle Scholar 3. Thiele P, Berg SF, Farlow B. More than a diagnosis. Acta Paediatr. 2013;102(12):1127-1129.PubMedGoogle ScholarCrossref 4. Santorum R. Rick Santorum bares his soul about Bella. https://www.youtube.com/watch?v=5-OWKEUTjNU. Accessed June 18, 2016. 5. Chittal N. MSNBC website. Rick Santorum opens up about disabled daughter. http://www.msnbc.com/msnbc/rick-santorum-opens-about-disabled-daughter-bellas-gift. Accessed July 8, 2016. 6. Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and surgical interventions for children with trisomy 13 and 18. JAMA. doi:10.1001/jama.2016.9819.Google Scholar 7. Todres ID, Krane D, Howell MC, Shannon DC. Pediatricians’ attitudes affecting decision-making in defective newborns. Pediatrics. 1977;60(2):197-201.PubMedGoogle Scholar 8. Lorber J. Selective treatment of myelomeningocele: to treat or not to treat? Pediatrics. 1974;53(3):307-308.PubMedGoogle Scholar 9. Mercurio M. The aftermath of Baby Doe and the evolution of Newborn Intensive Care. Ga State Univ Law Rev. 2008;25(4):835-863. http://readingroom.law.gsu.edu/cgi/viewcontent.cgi?article=2389&context=gsulr. Accessed July 8, 2016.Google Scholar 10. Koogler TK, Wilfond BS, Ross LF. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33(2):37-41.PubMedGoogle ScholarCrossref 11. Kon AA. Healthcare providers must offer palliative treatment to parents of neonates with hypoplastic left heart syndrome. Arch Pediatr Adolesc Med. 2008;162(9):844-848.PubMedGoogle ScholarCrossref 12. Janvier A, Okah F, Farlow B, Lantos JD. An infant with trisomy 18 and a ventricular septal defect. Pediatrics. 2011;127(4):754-759.PubMedGoogle ScholarCrossref 13. Payot A, Barrington KJ. The quality of life of young children and infants with chronic medical problems: review of the literature. Curr Probl Pediatr Adolesc Health Care. 2011;41(4):91-101.PubMedGoogle ScholarCrossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Trisomy 13 and 18—Treatment Decisions in a Stable Gray Zone

JAMA , Volume 316 (4) – Jul 26, 2016

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Publisher
American Medical Association
Copyright
Copyright © 2016 American Medical Association. All Rights Reserved.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2016.9470
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Abstract

Thirty years ago, pediatric residents were taught that trisomy 13 and 18 were lethal congenital anomalies. Parents were told that these conditions were incompatible with life. There was a tacit consensus that life-sustaining treatment was not medically indicated.1 Clinical experience usually was consistent with this self-fulfilling prophecy. Occasionally, though, some infants with these conditions did survive. The children were invariably institutionalized and described as severely impaired.2 These case reports were considered as the rare exceptions that proved the rule. In the age of social media, however, everything changed. Parents share stories and videos, showing their happy 4- and 5-year-old children with these conditions. Survival, it turns out, is not as rare as once thought. Children who were not institutionalized looked happy, cared for, and loved. It became increasingly awkward to describe these conditions as incompatible with life to parents who had ready access to information showing that it was not true. Still, old myths die hard. Many physicians still tell parents that death is inevitable.3 Former Senator Rick Santorum has spoken about the counseling that he and his wife received about their daughter Bella, who has trisomy 13.4 After the infant spent 10 days in the neonatal intensive care unit, Bella’s condition was stable with supplemental oxygen. The parents and physicians agreed that Bella would go home and receive hospice care. The parents wanted to continue providing oxygen; the physicians wanted to discontinue it. One physician bluntly told the Santorums, “You realize that your child is going to die. You have to learn to let go.” They got the oxygen. Bella survived. A few months later, she had a viral upper respiratory tract infection that led to a respiratory arrest. Her parents provided cardiopulmonary resuscitation. Again, she survived. She is now 8 years old, off oxygen, and apparently, medically stable.5 This story illustrates how predictions of lethality become self-fulfilling prophecies. If Bella had not received supplemental oxygen or cardiopulmonary resuscitation, predictions that she would die early in life would have turned out to be true. Clearly, her chances of survival were not just a function of her underlying condition. They were also determined by the treatment she received. The study by Nelson and colleagues6 in this issue of JAMA describes survival and use of surgery in a large population-based cohort of children with trisomy 13 and 18 over a long period (21 years, until 2013) in Ontario, Canada. Of 174 children with trisomy 13, the median survival was 12.5 days; of 254 children with trisomy 18, median survival was 9 days. However, 12.9% of children with trisomy 13 and 9.8% with trisomy 18 survived to 10 years. Of children with trisomy 13, 23.6% underwent surgery with a 1-year survival after the first surgery of 70.7%, and of children with trisomy 18, 13.8% underwent surgery with a 1-year survival after the first surgery of 68.6%. The authors did not comment on how many deaths followed decisions to withhold or withdraw life-sustaining treatment. In the authors’ review of population-based studies (eTable 6 in the Supplement), it appears that survival rates are increasing for infants with trisomy 13 and 18. Thirty years ago, no reports indicated that these infants survived until age 1 year. Over the next few decades, 1-year survival rates increased to 5% to 10%. In the study by Nelson and et al,6 19.8% of infants with trisomy 13 and 12.6% of infants with trisomy 18 lived past their first birthday. As with the study by Nelson et al,6 no prior studies report the percentage of deaths that follow decisions to withhold life-sustaining treatment but, given the prevailing mindset, the number is probably high. Thus, reported rates of survival must be low estimates of the true possibility of survival. The increased survival over time is almost certainly a result of decisions to provide more treatment. Similar shifts in societal attitudes toward particular congenital conditions have occurred in the past. Pediatricians previously recommended not treating infants with trisomy 217 or myelomeningocele.8 Societal consensus regarding these conditions has shifted. It is now impermissible to withhold surgery (except in rare and complicated circumstances) from infants with these diagnoses.9 It often happens that yesterday’s moral gray zones disappear as more data elucidate that treatment is either clearly beneficial or ineffective. Will treatment decisions for infants with trisomy 13 and 18 evolve in the same way? It seems unlikely that they will or should. Instead, they are in a “stable gray zone,” in which treatment decisions are unlikely to become more clear. The response to infants with these conditions suggests important features about gray zones in neonatal bioethics that have implications for other decisions about other conditions. Three factors produce gray zones: survival, neurocognitive deficits, and the burdens of treatment. Each is important, but ethical decisions must consider all 3. If no infants with a particular condition survive, even with treatment, treatment is futile and should not be offered. Currently, few conditions fall into this category10; they would include anencephaly or birth at 21 weeks of gestation or less. Historically, it was thought that trisomy 13 and 18 belonged in this category. That belief was clearly wrong. If survival rates are high but survival is associated with severe neurocognitive deficits, treatment is not ethically obligatory. In such situations, the key questions focus on the likelihood and the severity of deficits. All infants with trisomy 21 will have neurocognitive deficits, but those deficits are not so severe as to justify withholding most life-sustaining treatments. The deficits are more severe in trisomy 13 and 18, severe enough to make withholding of treatment ethically justifiable. The third factor is the burden of treatment. If treatment is long, complex, painful, and expensive, it is less likely to be considered obligatory. Today, many physicians argue that the burdens of 3 cardiac operations, along with the guarded prognosis for survival, justify withholding surgery for infants with hypoplastic left heart syndrome.11 Consideration of these 3 factors suggests the reasons trisomy 13 and 18 will remain in the gray zone. Although survival rates are improving, most infants are still likely to die before their first birthday. More data on survival might shift survival curves upwards but it is likely that, even with treatment, mortality rates will remain high. All infants with these conditions have severe neurocognitive impairment. There is no treatment for the underlying disease, only treatment for the associated medical complications. In some cases, the treatment is not particularly burdensome; yet, other infants may require complex surgery and prolonged intensive care.12 The concept of quality of life is too vague and subjective to be helpful as a criterion for deciding about the appropriateness of treatment. No one can know with certainty what any infant is thinking, feeling, or experiencing, but what is observed can be interpreted. Children with trisomy 13 and 18 smile and laugh. They are not in pain. They give and receive love. These factors suggest that their subjective quality of life is not so poor that life-prolonging treatment should not be offered. Generally, the phrase quality of life is misused as a synonym for physical or neurological impairment. But if impairment is to be discussed, accurate terminology should be used. Some infants and children can have severe impairments and still have an excellent quality of life.13 One of the features of a gray zone is that different parents will make different decisions about life-sustaining treatment. Such situations raise the question of whether individuals or society can or should tolerate moral variation. Is it acceptable that some infants will receive life-prolonging medical and surgical treatments while other infants with the same condition and prognosis will be allowed to die? If not, then all gray zones evolve into sharp distinctions between black and white. If so, the criteria previously described, imprecise as they may be, should be the basis for defining gray zones that may remain stable. If survival rates are low but not too low, neurocognitive impairment is severe but not total, and treatment is not so burdensome as to be inhumane, then parental values should drive decisions. Back to top Article Information Corresponding Author: John Lantos, MD, Children’s Mercy Hospital, University of Missouri–Kansas City, 2401 Gillham Rd, Kansas City, MO 64108 (jlantos@cmh.edu). Conflict of Interest Disclosures: The author has completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported. References 1. McGraw MP, Perlman JM. Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics. 2008;121(6):1106-1110.PubMedGoogle ScholarCrossref 2. Smith A, Silink M, Ruxton T. Trisomy 18 in an 11 year old girl. J Ment Defic Res. 1978;22(4):277-286.PubMedGoogle Scholar 3. Thiele P, Berg SF, Farlow B. More than a diagnosis. Acta Paediatr. 2013;102(12):1127-1129.PubMedGoogle ScholarCrossref 4. Santorum R. Rick Santorum bares his soul about Bella. https://www.youtube.com/watch?v=5-OWKEUTjNU. Accessed June 18, 2016. 5. Chittal N. MSNBC website. Rick Santorum opens up about disabled daughter. http://www.msnbc.com/msnbc/rick-santorum-opens-about-disabled-daughter-bellas-gift. Accessed July 8, 2016. 6. Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and surgical interventions for children with trisomy 13 and 18. JAMA. doi:10.1001/jama.2016.9819.Google Scholar 7. Todres ID, Krane D, Howell MC, Shannon DC. Pediatricians’ attitudes affecting decision-making in defective newborns. Pediatrics. 1977;60(2):197-201.PubMedGoogle Scholar 8. Lorber J. Selective treatment of myelomeningocele: to treat or not to treat? Pediatrics. 1974;53(3):307-308.PubMedGoogle Scholar 9. Mercurio M. The aftermath of Baby Doe and the evolution of Newborn Intensive Care. Ga State Univ Law Rev. 2008;25(4):835-863. http://readingroom.law.gsu.edu/cgi/viewcontent.cgi?article=2389&context=gsulr. Accessed July 8, 2016.Google Scholar 10. Koogler TK, Wilfond BS, Ross LF. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33(2):37-41.PubMedGoogle ScholarCrossref 11. Kon AA. Healthcare providers must offer palliative treatment to parents of neonates with hypoplastic left heart syndrome. Arch Pediatr Adolesc Med. 2008;162(9):844-848.PubMedGoogle ScholarCrossref 12. Janvier A, Okah F, Farlow B, Lantos JD. An infant with trisomy 18 and a ventricular septal defect. Pediatrics. 2011;127(4):754-759.PubMedGoogle ScholarCrossref 13. Payot A, Barrington KJ. The quality of life of young children and infants with chronic medical problems: review of the literature. Curr Probl Pediatr Adolesc Health Care. 2011;41(4):91-101.PubMedGoogle ScholarCrossref

Journal

JAMAAmerican Medical Association

Published: Jul 26, 2016

Keywords: congenital heart defects,congenital heart disease,child,patau's syndrome,edward's syndrome

References