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Moving toward a shared process: The impact of parent experiences on perinatal palliative care
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Available online at www.sciencedirect.com
Seminars in Perinatology www.seminperinat.com
Moving toward a shared process: The impact of parent experiences on perinatal palliative care Susan L. Hasegawa, MD, PhD, and Jessica T. Fry, MDn Division of Neonatology, Ann & Robert H. Lurie Childrenʼs Hospital of Chicago, Box 45, 225 E. Chicago Ave, Chicago, IL 60611
article info
abstra ct
Keywords:
Perinatal palliative care programs seek to support parents expecting a baby diagnosed with
Palliative care
a serious medical condition. Clinicians have increasingly recognized the importance of
Parent experiences
parental perspectives on the medical care mothers and their fetuses and live-born children
Neonatal
receive, especially regarding factors influencing individual choices and knowledge of the
Perinatal
medical community. We describe, using literature on trisomy 13 and trisomy 18, how
Trisomy 13
information shared between parents and providers can improve perinatal counseling and
Trisomy 18
family support.
Decision Making
Introduction Every year across the United States thousands of pregnant women receive shattering news from obstetrical clinicians. These women learn through a variety of screening and diagnostic studies that the babies they are expecting suffer from a serious medical condition. Some women hear the grim news that their babies may die before birth. This occurs all too commonly: birth defects annually complicate an estimated 3% of all U.S. pregnancies and contribute to 20% of all infant deaths.1 After receiving such a diagnosis, the pregnant woman typically receives a tremendous amount of medical information regarding her two possible choices: continuing her pregnancy with ongoing expectant management or pregnancy termination. Though the overall incidence of serious birth defects has remained relatively stable over time, medical knowledge regarding prognosis and therapy for many serious congenital conditions has greatly expanded over the past decade. This has led to changes in the way professionals counsel and support families. Several serious congenital conditions, until recently regarded as uniformly fatal, now respond to treatments that can extend life for weeks, months n
Corresponding author. E-mail address: [email protected] (J.T. Fry).
http://dx.doi.org/10.1053/j.semperi.2016.11.002 0146-0005/& 2016 Elsevier Inc. All rights reserved.
& 2016 Elsevier Inc. All rights reserved.
or years. Reports of long-term survivors with so-called “lethal” conditions highlight the considerable ambiguity inherent in prenatal prognostication. In this discussion we focus on families dealing with this uncertainty amidst their grief. How do medical providers and families approach decision-making in perinatal palliative care, and how has this changed in recent years? How does increasing parent autonomy in a changing social environment better inform care for families struggling with adverse prenatal diagnoses?
Perinatal palliative care Perinatal palliative care is a developing field that aims to provide multidisciplinary and comprehensive patient- and family-centered support for decision-making and care coordination after a concerning fetal diagnosis. Perinatal palliative care providers seek to help expectant parents and families digest overwhelming information so that they can better formulate and enact personalized plans of care.2 Focused palliative care in the perinatal period originated relatively recently and applied principles of modern adult
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hospice care to the prenatal period and beyond. Hoeldtke et al.3 described their work caring for women who received fetal diagnoses predicted as lethal and chose to continue their pregnancies. The authors noted that obstetrical care teams often strongly recommended pregnancy termination, placing women who chose expectant management in a professional blind spot. Subsequently, a number of different reports described implementation of formal perinatal hospice programs, centered on providing postpartum comfort care to newborns after diagnoses with well-established high rates of intrauterine fetal demise or early postnatal death.4–7 Ongoing advances in prenatal screening and diagnosis have brought increasing complexity to prenatal prognostication. Studies such as maternal–fetal MRI, cell-free fetal DNA testing of maternal blood, and advanced fetal genetic and genomic analyses have resulted in earlier and more frequent diagnoses of congenital anomalies prior to birth.8 Multiple studies of communication during the perinatal period have shown that families want and benefit from definitive information delivered in a clear and empathic manner.9,10 However, vague predictions may be less useful and may indeed cause secondary trauma after the initial diagnosis.11 Interpretation of relatively new test results may prove challenging, as rapidly advancing diagnostic technologies may outpace the clinical understanding of patient outcomes. Medical and surgical interventions continue to grow in number and intensity, allowing improved survival and decreased morbidity for some infants. Without complete data on outcomes of infants with rare prenatally diagnosed conditions, clinicians cannot provide accurate prognostic and therapeutic counseling for parents. To illustrate how advancing medical knowledge and shifting practice may affect prenatal prognostication and family experiences, we examine the situation regarding children with trisomies 13 and 18.
Trisomies 13 and 18 and the changing landscape of perinatal palliative care Parental experience of children with trisomies 13 and 18 may serve as a model for how social change and emerging evidence have altered perinatal palliative care, mirroring experiences with trisomy 21 in the late 20th century.12,13 Since initial descriptions in the 1960s, trisomies 13 and 18 were commonly regarded as lethal conditions due to high pre- and postnatal mortality.14,15 Population-based surveys of infants during this period reported median survival of liveborn infants between a few days to weeks and survival beyond 1 year averaging 5–10%, accompanied by profound neurodevelop-mental disability.16–19 Along with high rates of intrauterine and intrapartum demise,20,21 these statistics prompted care for prenatally diagnosed cases to center on either pregnancy termination or maternally-focused obstetric management and nearly exclusive provision of comfort care for neonates.16 In spite of this, case reports surfaced documenting long-term survival for both conditions.17,19,22 A relatively thin evidence base regarding the factors that contribute to longevity complicated prognostication, with outcomes remaining poorly studied. As a result, clinical management proceeded based solely upon abnormal karyotypes.
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Over the past decade, however, several intersecting medical and societal factors began to influence this practice. First, progressive advancement of neonatal intensive care prolonged the lives of many medically complex, fragile newborns. Several small case series from the mid-2000s, primarily from Japan, began to report the experiences of infants with trisomy 13 and 18 receiving neonatal intensive care and cardiac surgery. One center described a cohort of 24 infants with trisomy 18: 88% received mechanical ventilation, with a median survival of 152.5 days and survival rates of 83% at 1 month and 25% at 1 year. Congenital cardiac disease was the most common factor in mortality.23 An analysis of intensive treatment for 16 neonates with trisomy 13 revealed median survival of 733 days with a bimodal pattern of 1-year survival: approximately half survived less than 2 months and the remainder lived for at least 1 year.24 Subsequent series reported the impact of cardiac surgery on infants with both trisomy 13 and 18 and suggested improved overall survival with either palliative surgery or cardiac repair for of a variety of congenital heart defects.25–27 Together these studies introduced the idea that, at least for some neonates, early interventions can substantially prolong survival. However, neonatal intensive care and surgery remained controversial in much of the world. Perinatal palliative care for these children continued to focus on comfort with hospice-based care, citing the “best interest of the child.”28 At about the same time, the disability rights movement prompted changes in societal attitudes regarding the quality of life of those with severe disabilities, encouraging an emphasis on patient capacity and autonomy or, where appropriate, surrogate decision-making.29,30 The rise of family advocacy organizations, accompanied by online support and social media, provided widespread access to a more positive outlook on life with surviving children. Surveys of parents of children with trisomies 13 or 18 who belong to support groups almost universally describe their child as happy, interactive with family members, and enriching family life.30,31 Psychomotor assessments show that these children, while having severely disabilities, can achieve some developmental milestones.32 Following initial diagnosis, families searching online encounter images of these children which counter providers’ dire predictions of “certain” mortality or rare survivors in a “vegetative” state. Many parents who seek and find such online support feel empowered to advocate for more intensive medical care for their children. In this changing medical and social landscape, larger and more recent studies from North America have shown that children with both trisomies increasingly experience hospitalization, often receiving intensive medical and surgical interventions that may contribute to longer survival. One large study surveyed a U.S. database of in-hospital care for children with either trisomy 13 or 18.33 One-third of hospitalizations represented birth admissions, with 46% discharged home alive. Another third of hospitalizations were for children over 1 year of age. Over 2500 major therapeutic interventions were performed over the 5 years of the study. A separate study from Canada indicated that more children with these conditions receive surgical care, ranging from minor procedures to major cardiac surgery.34 While early mortality remained very common, survival rates appeared to stabilize for both
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trisomies after several months. Of those undergoing surgery, 1-year survival was 70% for trisomy 13 and 68.6% for trisomy 18. Overall survival was 10–13% at 10 years. While these data cannot definitively attribute survival to interventions, they suggest some children may benefit from the efforts. A recent single-center review of 132 children with either trisomy 13 or 18 showed procedures increased in quantity and intensity per patient over time. In this review, 1-year survival of children undergoing at least one major procedure was 30% for trisomy 13 and 22% for trisomy 18, compared to 3% and 7%, respectively, for those without a major procedure.35 A recent, multi state, population-based study found 5-year survival to be 9.7% for trisomy 13 and 12.3% for trisomy 18.36 As in other studies, early mortality remained high; however, survival past the first week of life conferred a 60–70% chance of surviving the neonatal period. Lower mortality was associated with higher gestational age, female sex, and birth to non-Hispanic black mothers. Large differences in survival were noted by state, suggesting regional differences in the care provided for these children. A survey of parents with children living with trisomies 13 or 18 recognized increased 1-year survival of 40% with 25% of the group opting for life-sustaining interventions.37 The survey sampled from social networks and therefore excluded families who experienced fetal demise or pregnancy termination; however, the study revealed some striking findings.31 As noted previously, male gender, low birth weight, and congenital heart anomalies were associated with early mortality. However, the most important independent factor associated with survival was timing of diagnosis. Children with prenatal diagnoses most often received strict comfort care (no life-prolonging interventions), while those with a postnatal diagnosis received full interventions, “as any other children,” including mechanical ventilation, until clinicians made a definitive genetic diagnosis. At that point, clinicians and parents sometimes agreed to discontinue life support; however, in spite of treatment withdrawal, many in this group survived longer than those in the nonintervention group. The authors suggest that a trial of mechanical ventilation may provide a small survival advantage for some infants with these trisomies. In addition, neonatal care measures considered “palliative” differed based on the timing of diagnosis. Palliative care for prenatally diagnosed infants consisted mainly of warmth, skin-to-skin care and medication for comfort. Palliative care for postnatally diagnosed babies expanded to include oxygen, intravenous fluids, cardiac and apnea monitoring, caffeine, and other measures, “meant to maximize the comfort of their child.”37 Together, these findings suggest that a broader and more individualized approach to palliative care may be warranted for children with these conditions.
Parental experiences following a serious prenatal diagnosis In order to understand how changing information and practice affect parental experiences with palliative care, one must examine how parents experience perinatal diagnosis and ongoing medical care. A pregnancy complicated by a prenatal
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diagnosis of a life-threatening condition remains one of the most traumatic and life-altering experiences that befalls anyone. Parents generally anticipate a healthy baby. Finding out otherwise immediately transforms them, thrusting them into “a series of nested and time-sensitive decisions” affecting the remainder of the pregnancy and beyond.38 Given the prognostic uncertainty of many conditions, processing clinical information and making decisions place cognitive and emotional demands on the pregnant woman and her partner, though the experience generally has more impact on the expectant mother.38–40 Regardless of decisions made, parents enter a period that disrupts the developmental pathway of becoming parents,40 creating emotional shock, profound grief, and multiple losses. This experience disturbs both self-identity and relationships with others.39,41 Clinicians need at least a basic understanding of this distress to establish and maintain a compassionate, trusting parent– provider relationship. Although pregnancy termination is almost universally included in counseling,37,42,43 between 37% and 87% of parents elect to continue to term when offered the choice.2 Parents cite several reasons for doing so. While personal values guide most of these decisions, religious beliefs or attitudes about abortion do not drive all of the choices.43 Some parents base decisions on personal belief systems, unrelated to religion, in which elective termination for a serious condition or disability did not “seem right” or felt “selfish.”42 A majority of parents cite child-centered reasons, such as love for their baby and the intrinsic value of their child’s life, as justifications for continuing a pregnancy. Others offer parent-centered reasons, such as the opportunity to meet and parent their child and to avoid future regret.43 Past experiences with disability, prior pregnancy termination, and prognostic uncertainty about their child’s condition may also factor into decisions.42 Following diagnosis, parents find their pregnancy journey altered regarding two main themes: their developing identity as parents and their interactions with others.41 The personal dimension includes grief over losing a normal pregnancy and a healthy baby, an abrupt halt to the process of becoming a parent, and intense needs to legitimize the pregnancy and assert their baby’s value in spite of an adverse diagnosis. In recognizing these threats, parents often resent providers dehumanizing their baby as a “fetus,” referring to him or her as “it” and not recognizing the ongoing emotional bond between parent and child.44 Parents come to realize that their pregnancy may be their only time with the baby.40 Prenatal parenting following an adverse diagnosis can make the parenting effort more deliberate, accelerated, and compressed.41,45 This may involve seeking out specialized medical care, attending more closely to maternal health and birth planning, and taking a more active role in decision-making. Parents promote their child’s innate value and humanity by giving him or her a name, including the child in family rituals and holidays, and seeking meaning in a short life by donating breastmilk or the baby’s organs or tissue after death. Parents may seek closer physical, auditory and visual interactions with the baby both pre- and postnatally to make memories from the time they have together. Even though parents may fear attachment, many need to normalize the pregnancy and
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appreciate continuing usual obstetric management, including monitoring, ultrasound exams, and routine blood tests.43 Interactions with others often change dramatically and can result in feelings of isolation from social support systems.41 Unable to understand a situation that seems beyond comprehension, family and friends may emotionally disconnect from the affected couple, respond insensitively, or show a lack of empathy, despite good intentions. Parents report experiencing feeling socially abandoned as friends “drop off” or feel that their relationships were strained.40,46 Parents often intentionally expand or restrict their social circles depending on the situation and their coping styles.40 Furthermore, parents may struggle with sharing prenatal diagnosis and management decisions for fear of others’ judgment and/or social stigmatization of the disabled.39,41,42 Many parents perceive that others devalue their babies or their status as parents. Other couples feel that family and friends cannot understand their grief and expect them to recover quickly from their loss because they are not expected to strongly attach to their baby.44 However, one study of personal growth following an adverse prenatal diagnosis found that altered relationships with others may also prompt positive change.47 The women surveyed described increased emotional closeness to their partners and sharing experiences allowed them to find support from extended family members and develop compassion for strangers.
Potential conflict between parents and providers An adverse prenatal diagnosis can abruptly disrupt a parent’s relationship with medical providers and the entire healthcare system. Uncomfortable interactions may begin at the first indication of a problem. Parents notice when sonographers grow silent, spend extended time examining the baby, or suddenly exit the room, leaving the couple in emotional turmoil.41,48,49 During counseling sessions, parents may feel providers fail to fully disclose management options or invalidate their pregnancy and child by repeatedly promoting termination.49 Some parents feel abandoned by clinicians who offer insufficient emotional support, discontinue clinical care, or fail to offer referrals.50 Additionally, high levels of parental distress and emotions (shock, anger, sadness, etc.) can result in heightened perception of clinician insensitivity or the feeling that a provider’s impassive behavior represents a lack of empathy.51 Families worry that they may receive different care because of their decision to continue the pregnancy. Many mothers perceive that their obstetric providers focused exclusively on maternal safety, with resultant substandard care for their baby.42,49 The experiences reported by families emphasizes the critical importance of healthcare providers recognizing how their own personal beliefs and biases influence their interactions with parents and their recommendations for decisionmaking. Provider bias, though in some ways inevitable, may reflect social stereotyping and represents reductionist thinking, ultimately acting to counter patient best interest or undermine autonomy. Biased language alone may promote self-fulfilling prophecies.52,53 Once a condition acquires the label of lethal, based on historical statistics about individuals
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who generally received no treatment, those data “justify” nonintervention and result in continued poor outcomes. In social media and support groups, families cite providers’ use of the terms “lethal disorder” and “incompatible with life” as emotionally charged terms that devalue their children.31 As noted, these terms remains ambiguous53 because of growing numbers of long-term survivors54,55 and a wide range of phenotypes. The concept of “medical futility” similarly involves a lack of definitional clarity and problems in assessing individual cases. Its use may reflect a provider’s need to limit patient/parent autonomy by ending conversations and the withholding of requested treatment.55 Historically, a consensus among obstetricians has favored maternal-based care and nonintervention for fetuses with serious genetic conditions. Chervenak and McCullough assert that severe fetal anomalies place ethical limits on both providers’ and parents’ beneficence-based obligations to the fetus with a high probability of either death or survival with severe developmental disability. In their view, for these conditions “the fetal patient should be considered a dying patient” and aggressive management is not obligatory; however, more active management can be considered and offered. These authors assert that honoring requests for caesarian section may be reasonable for maternal psychosocial reasons, notably hope for a live birth.56 Similarly, neonatologists have demonstrated a tacit consensus that babies with lethal anomalies should not undergo delivery room resuscitation and that intensive care measures which cause pain are “futile.” The understanding that terms such as lethal and futile are rarely useful for families should prompt changes in what neonatologists say and offer. Increasingly, though, shared decision-making has resulted in more variation in delivery room and neonatal management.57 Some providers may abandon the above outmoded language but still feel poor “quality of life” should compel withholding treatment. Historically, clinicians often used the term as a synonym for severe, irreversible physical or neurological impairment,52,53 suggesting an automatic negative normative response. Indeed, the phrases “lethal anomaly” and “quality of life” are often linked. It has been well documented, however, that clinicians often judge individuals’ quality of life much more negatively than parents and families and that providers underestimate the developmental potential and positive contribution of these children to the lives of their families.19,30–32,43,58
Aligning parents and providers Providers may observe that as parents’ identities transform with an adverse diagnosis, the families become fervent advocates for the child in healthcare decisions.40,45,49 While consultation with multiple disciplines can help allay fears and offer confidence that the baby will receive specialized care, it can also result in fragmented care and poor communication among providers or staff members.41,50,51,59 A dedicated care coordinator assigned to a family can help establish trust in other professionals, improve communication between services, and help care proceed more smoothly.59,60 Parents especially appreciate “special” healthcare providers
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who deliver balanced and personalized information, offer choices, respect the baby and parental decisions, and provide emotional support.43,44,49,50 Parents need providers to invite expressions of their hopes, fears, and goals for their child and, whenever possible, allow these to guide management decisions. Once parents understand the diagnosis and its implications, they begin to rethink their goals for the pregnancy and their child’s life.40 In a survey of members of a trisomy 13 and 18 online support group, 80% of parents mentioned that a major goal became meeting their child alive in the delivery room or nursery.37,43 Other goals included being together as a family (72%), giving their child a good life (66%), and bringing their child home (52%). A total of 61% of parents desired giving their child a chance at survival, but did not want living to come at the expense of excessively burdensome interventions and lifelong hospitalization.37 About 20% of parents expressed hope that their child would exceed expectations or be among the rare survivors and only a few parents (4%) hoped for either a misdiagnosis or a miracle.43 An overarching goal of parents facing adverse fetal diagnoses is to “have no regrets” and feel they “did the best that they could for their baby.”40 Providers need to ask parents specifically about their goals and try to achieve what matters most to the family, especially surrounding end-of-life care. Often parents carry hopes they silently cultivate over time. Unless providers ask, these wishes may remain unfulfilled and may serve as a source of regret.61 Healthcare providers hold a unique position to help fulfill families’ profoundly meaningful desires, which, in turn, can be deeply moving for staff.
Conclusion Emerging medical and psychosocial evidence suggests that nuanced and individualized approaches to perinatal palliative care are warranted for babies with life-threatening or life-limiting conditions. A one-size-fits-all model of nonintervention may not serve the best interest of every child and may not align with a family’s values and goals for care.12,13 At present, a number of serious medical conditions, including trisomy 13 and trisomy 18, have no prospect of cure in the strictest sense. Given the high degree of perinatal mortality even among those receiving intensive care, there will remain patients for whom procedures may prove burdensome, inflict unnecessary suffering, and even hasten death. For these children, comfort care with limited intervention and intense emotional support remains appropriate. At the same time, providers may find guidance from combining growing evidence about the factors affecting survivorship and interventions that may reduce morbidity. Clinicians should consider strategic observation of a patient’s stability over time and balance this with family goals and values in selecting appropriate and ethically sound clinical care.12,13,37 In this way, consistent with the spirit of family-centered perinatal palliative care, clinicians and parents can share decisions about medical and surgical interventions to ameliorate the burden of disability and improve quality of life for individual children. Providers from multiple clinical disciplines should promote open communication, recognize bias and areas of
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uncertainty, and allow families to express values, fears, and overall goals from early in the relationship and along every step of the decision-making process.62 In this emerging age of personalized medicine, individualized care should extend even to palliative care in the smallest, most vulnerable patients.
refere nces
1. CDC. Update on overall prevalence of major birth defects— Atlanta, Georgia 1978–2005. Morbid Mortal Wkly Rep. 2008;57(1): 1–5. 2. Balaguer Albert, Ana Martín-Ancel, Dario Ortigoza-Escobar, Joaquin Escribano, Josep Argemi. The model of palliative care in the perinatal setting: a review of the literature. BMC Pediatr. 2012;12(1):25–32. 3. Hoeldtke Nathan J, Byron C Calhoun. Perinatal hospice. Am J Obstet Gynecol. 2001;185(3):525–529. 4. Leuthner Steven R. Palliative care of the infant with lethal anomalies. Pediatr Clin North Am. 2004;51(3):747–759. 5. Munson David, Leuthner Steven R. Palliative care for the family carrying a fetus with a life-limiting diagnosis. Pediatr Clin North Am. 2007;54(5):787–798. 6. Pierucci Robin L, Kirby Russell S, Leuthner Steven R. End-oflife care for neonates and infants: the experience and effects of a palliative care consultation service. Pediatrics. 2001;108 (3):653–660. 7. Catlin Anita, Carter Brian. Creation of a neonatal end-of-life palliative care protocol. Neonatal Netw. 2002;21(4):37–49. 8. Hui Lisa, Bianchi Diana W. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genetics. 2013;29(2):84–91. 9. Miquel-Verges Franscesca, et al. Prenatal consultation with a neonatologist for congenital anomalies: parental perceptions. Pediatrics. 2009;124(4):e573–e579. 10. Gaucher N, Payot Antoine. From powerlessness to empowerment: mothers expect more than information from the prenatal consultation for preterm labour. Paediatr Child Health. 2011;16(10):638–642. 11. Lemmon Monica E, et al. Communication challenges in neonatal encephalopathy. Pediatrics. 2016;138(3):e20161234. 12. Lorenz John M, Hardart George E. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr. 2014;26(2):169–176. 13. McCaffrey Martin J. Trisomy 13 and 18: selecting the road previously not taken. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):251–256. 14. Bos AP, et al. Avoidance of emergency surgery in newborn infants with trisomy 18. The Lancet. 1992;339(8798):913–915. 15. Wyllie Jonathan P, et al. Natural history of trisomy 13. Arch Dis Child. 1994;71(4):343–345. 16. Embleton ND, et al. Natural history of trisomy 18. Arch Dis Child—Fetal Neonatal Ed. 1996;75(1):F38–F41. 17. Rasmussen Sonja A, et al. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111 (4):777–784. 18. Niedrist D, et al. Survival with trisomy 18—data from Switzerland. Am J Med Genet A. 2006;140(9):952–959. 19. Cereda Anna, Carey John C. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7(1):81–94. 20. Morris Joan K, Savva George M. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008;146(7):827–832. 21. Burke Annette L, Field Katie, Morrison John J. Natural history of fetal trisomy 18 after prenatal diagnosis. Arch Dis Child— Fetal Neonatal Ed. 2013;98(2):F152–F154.
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22. Baty Bonnie J, Blackburn Brent L, Carey John C. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994;49(2):175–188. 23. Kosho Tomoki, et al. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A. 2006;140(9):937–944. 24. Tsukada Keiko, et al. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63(3):191–198. 25. Kaneko Yukihiro, et al. Cardiac surgery in patients with trisomy 18. Pediatr Cardiol. 2009;30(6):729–734. 26. Muneuchi Jun, et al. Outcomes of cardiac surgery in trisomy 18 patients. Cardiol Young. 2010;21(2):209–215. 27. Maeda Jun, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A. 2011;155(11):2641–2646. 28. Merritt T Allen, et al. Trisomy 18 and Trisomy 13. NeoReviews. 2012;13(1):e40–e48. 29. Janvier Annie, Watkins Andrew. Medical interventions for children with trisomy 13 and trisomy 18: what is the value of a short disabled life? Acta Paediatr. 2013;102(12):1112–1117. 30. Kosho Tomoki, et al. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group. Am J Med Genet A. 2013;161(7):1531–1542. 31. Janvier Annie, Farlow Barbara, Wilfond Benjamin S. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics. 2012;130(2):293–298. 32. Baty Bonnie J, et al. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. 1994;49(2):189–194. 33. Nelson Katherine E, Hexem Kari R, Feudtner Chris. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics. 2012;129(5):869–876. 34. Nelson Katherine E, et al. Survival and surgical interventions for children with trisomy 13 and 18. J Am Med Assoc. 2016;316 (4):420–428. 35. Josephsen Justin B, et al. Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐ center review. Am J Med Genet Part C: Semin Med Genet. 2016;172 (3):264–271. 36. Meyer Robert E, et al. Survival of children with trisomy 13 and trisomy 18: a multi‐state population‐based study. Am J Med Genet A. 2015;170A(4):825–837. 37. Janvier Annie, Farlow Barbara, Barrington Keith J. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):279–287. 38. Sandelowski Margarete, Barroso Julie. The travesty of choosing after positive prenatal diagnosis. J Obstet Gynecol Neonatal Nurs. 2005;34(3):307–318. 39. Howard Elisabeth D. Family‐centered care in the context of fetal abnormality. J Perinat Neonatal Nurs. 2006;20(3):237–242. 40. Côté-Arsenault Denise, Denney-Koelsch Erin. “Have no regrets:” Parents’ experiences and developmental tasks in pregnancy with a lethal fetal diagnosis. Soc Sci Med. 2016;154(10):100–109. 41. Côté-Arsenault Denise, Denney-Koelsch Erin. “My baby is a person”: parents’ experiences with life-threatening fetal diagnosis. J Palliat Med. 2011;14(12):1302–1308. 42. Redlinger‐Grosse Krista, et al. The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet. 2002;112 (4):369–378.
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43. Guon Jennifer, et al. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet A. 2014;164(2):308–318. 44. Lathrop Anthony, VandeVusse Leona. Affirming motherhood: validation and invalidation in women0 s perinatal hospice narratives. Birth. 2011;38(3):256–265. 45. Côté-Arsenault Denise, Krowchuk Heidi, Hall Wendasha Jenkins, Denney-Koelsch Erin. We want what’s best for our baby: prenatal parenting of babies with lethal conditions. J Prenat Perinat Psychol Health. 2015;29(3):157–176. 46. Hickerton Chriselle L, et al. Did you find that out in time? New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet A. 2012;158(2):373–383. 47. Black Beth, Sandelowski Margarete. Personal growth after severe fetal diagnosis. West J Nurs Res. 2010;32(8):1011–1030. 48. Locock Louise, Crawford Jane, Crawford Jon. The parents’ journey: continuing a pregnancy after a diagnosis of Patau’s syndrome. Br Med J. 2005;331(7526):1186–1189. 49. Walker LV, Miller VJ, Dalton VK. The health-care experiences of families given the prenatal diagnosis of trisomy 18. J Perinatol. 2008;28(1):12–19. 50. Thiele Pauline. Going against the grain: Liam’s story. J Paediatr Child Health. 2011;47(9):656–658. 51. Chitty Lyn S, Barnes Chris A, Berry Caroline. Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for management. Br Med J. 1996;313:478–480. 52. Koogler Tracy K, Wilfond Benjamin S, Ross Lainie Friedman. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33 (2):37–41. 53. Lantos John D. Trisomy 13 and 18—treatment decisions in a stable Gray zone. J Am Med Assoc. 2016;316(4):396–398. 54. Tosello Barthélémy, et al. Lethal fetal abnormalities: how to approach perinatal palliative care? J Matern—Fetal Neonatal Med. 2016(6):1–13. 55. Wilkinson DJC, et al. Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK. Prenat Diagn. 2014;34(1):42–49. 56. Chervenak Frank, McCullough Laurence B. Responsibly counselling women about the clinical management of pregnancies complicated by severe fetal anomalies. J Med Ethics. 2012;38 (7):397–398. 57. McGraw Melanie P, Perlman Jeffrey M. Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics. 2008;121(6):1106–1110. 58. Payot Antoine, Barrington Keith J. 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. 59. Catlin Anita, et al. From diagnosis to birth: Parents0 experience when expecting a child with congenital anomaly. Adv Neonatal Care. 2008;8(6):348–354. 60. Wool Charlotte. State of the science on perinatal palliative care. J Obstet Gynecol Neonatal Nurs. 2013;42(3):372–382. 61. Carter BS, et al. Four wishes for Aubrey. J Perinatol. 2012;32(1): 10–14. 62. Andrews Sasha E, et al. Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):1–7.
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Available online at www.sciencedirect.com
Seminars in Perinatology www.seminperinat.com
Moving toward a shared process: The impact of parent experiences on perinatal palliative care Susan L. Hasegawa, MD, PhD, and Jessica T. Fry, MDn Division of Neonatology, Ann & Robert H. Lurie Childrenʼs Hospital of Chicago, Box 45, 225 E. Chicago Ave, Chicago, IL 60611
article info
abstra ct
Keywords:
Perinatal palliative care programs seek to support parents expecting a baby diagnosed with
Palliative care
a serious medical condition. Clinicians have increasingly recognized the importance of
Parent experiences
parental perspectives on the medical care mothers and their fetuses and live-born children
Neonatal
receive, especially regarding factors influencing individual choices and knowledge of the
Perinatal
medical community. We describe, using literature on trisomy 13 and trisomy 18, how
Trisomy 13
information shared between parents and providers can improve perinatal counseling and
Trisomy 18
family support.
Decision Making
Introduction Every year across the United States thousands of pregnant women receive shattering news from obstetrical clinicians. These women learn through a variety of screening and diagnostic studies that the babies they are expecting suffer from a serious medical condition. Some women hear the grim news that their babies may die before birth. This occurs all too commonly: birth defects annually complicate an estimated 3% of all U.S. pregnancies and contribute to 20% of all infant deaths.1 After receiving such a diagnosis, the pregnant woman typically receives a tremendous amount of medical information regarding her two possible choices: continuing her pregnancy with ongoing expectant management or pregnancy termination. Though the overall incidence of serious birth defects has remained relatively stable over time, medical knowledge regarding prognosis and therapy for many serious congenital conditions has greatly expanded over the past decade. This has led to changes in the way professionals counsel and support families. Several serious congenital conditions, until recently regarded as uniformly fatal, now respond to treatments that can extend life for weeks, months n
Corresponding author. E-mail address: [email protected] (J.T. Fry).
http://dx.doi.org/10.1053/j.semperi.2016.11.002 0146-0005/& 2016 Elsevier Inc. All rights reserved.
& 2016 Elsevier Inc. All rights reserved.
or years. Reports of long-term survivors with so-called “lethal” conditions highlight the considerable ambiguity inherent in prenatal prognostication. In this discussion we focus on families dealing with this uncertainty amidst their grief. How do medical providers and families approach decision-making in perinatal palliative care, and how has this changed in recent years? How does increasing parent autonomy in a changing social environment better inform care for families struggling with adverse prenatal diagnoses?
Perinatal palliative care Perinatal palliative care is a developing field that aims to provide multidisciplinary and comprehensive patient- and family-centered support for decision-making and care coordination after a concerning fetal diagnosis. Perinatal palliative care providers seek to help expectant parents and families digest overwhelming information so that they can better formulate and enact personalized plans of care.2 Focused palliative care in the perinatal period originated relatively recently and applied principles of modern adult
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hospice care to the prenatal period and beyond. Hoeldtke et al.3 described their work caring for women who received fetal diagnoses predicted as lethal and chose to continue their pregnancies. The authors noted that obstetrical care teams often strongly recommended pregnancy termination, placing women who chose expectant management in a professional blind spot. Subsequently, a number of different reports described implementation of formal perinatal hospice programs, centered on providing postpartum comfort care to newborns after diagnoses with well-established high rates of intrauterine fetal demise or early postnatal death.4–7 Ongoing advances in prenatal screening and diagnosis have brought increasing complexity to prenatal prognostication. Studies such as maternal–fetal MRI, cell-free fetal DNA testing of maternal blood, and advanced fetal genetic and genomic analyses have resulted in earlier and more frequent diagnoses of congenital anomalies prior to birth.8 Multiple studies of communication during the perinatal period have shown that families want and benefit from definitive information delivered in a clear and empathic manner.9,10 However, vague predictions may be less useful and may indeed cause secondary trauma after the initial diagnosis.11 Interpretation of relatively new test results may prove challenging, as rapidly advancing diagnostic technologies may outpace the clinical understanding of patient outcomes. Medical and surgical interventions continue to grow in number and intensity, allowing improved survival and decreased morbidity for some infants. Without complete data on outcomes of infants with rare prenatally diagnosed conditions, clinicians cannot provide accurate prognostic and therapeutic counseling for parents. To illustrate how advancing medical knowledge and shifting practice may affect prenatal prognostication and family experiences, we examine the situation regarding children with trisomies 13 and 18.
Trisomies 13 and 18 and the changing landscape of perinatal palliative care Parental experience of children with trisomies 13 and 18 may serve as a model for how social change and emerging evidence have altered perinatal palliative care, mirroring experiences with trisomy 21 in the late 20th century.12,13 Since initial descriptions in the 1960s, trisomies 13 and 18 were commonly regarded as lethal conditions due to high pre- and postnatal mortality.14,15 Population-based surveys of infants during this period reported median survival of liveborn infants between a few days to weeks and survival beyond 1 year averaging 5–10%, accompanied by profound neurodevelop-mental disability.16–19 Along with high rates of intrauterine and intrapartum demise,20,21 these statistics prompted care for prenatally diagnosed cases to center on either pregnancy termination or maternally-focused obstetric management and nearly exclusive provision of comfort care for neonates.16 In spite of this, case reports surfaced documenting long-term survival for both conditions.17,19,22 A relatively thin evidence base regarding the factors that contribute to longevity complicated prognostication, with outcomes remaining poorly studied. As a result, clinical management proceeded based solely upon abnormal karyotypes.
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Over the past decade, however, several intersecting medical and societal factors began to influence this practice. First, progressive advancement of neonatal intensive care prolonged the lives of many medically complex, fragile newborns. Several small case series from the mid-2000s, primarily from Japan, began to report the experiences of infants with trisomy 13 and 18 receiving neonatal intensive care and cardiac surgery. One center described a cohort of 24 infants with trisomy 18: 88% received mechanical ventilation, with a median survival of 152.5 days and survival rates of 83% at 1 month and 25% at 1 year. Congenital cardiac disease was the most common factor in mortality.23 An analysis of intensive treatment for 16 neonates with trisomy 13 revealed median survival of 733 days with a bimodal pattern of 1-year survival: approximately half survived less than 2 months and the remainder lived for at least 1 year.24 Subsequent series reported the impact of cardiac surgery on infants with both trisomy 13 and 18 and suggested improved overall survival with either palliative surgery or cardiac repair for of a variety of congenital heart defects.25–27 Together these studies introduced the idea that, at least for some neonates, early interventions can substantially prolong survival. However, neonatal intensive care and surgery remained controversial in much of the world. Perinatal palliative care for these children continued to focus on comfort with hospice-based care, citing the “best interest of the child.”28 At about the same time, the disability rights movement prompted changes in societal attitudes regarding the quality of life of those with severe disabilities, encouraging an emphasis on patient capacity and autonomy or, where appropriate, surrogate decision-making.29,30 The rise of family advocacy organizations, accompanied by online support and social media, provided widespread access to a more positive outlook on life with surviving children. Surveys of parents of children with trisomies 13 or 18 who belong to support groups almost universally describe their child as happy, interactive with family members, and enriching family life.30,31 Psychomotor assessments show that these children, while having severely disabilities, can achieve some developmental milestones.32 Following initial diagnosis, families searching online encounter images of these children which counter providers’ dire predictions of “certain” mortality or rare survivors in a “vegetative” state. Many parents who seek and find such online support feel empowered to advocate for more intensive medical care for their children. In this changing medical and social landscape, larger and more recent studies from North America have shown that children with both trisomies increasingly experience hospitalization, often receiving intensive medical and surgical interventions that may contribute to longer survival. One large study surveyed a U.S. database of in-hospital care for children with either trisomy 13 or 18.33 One-third of hospitalizations represented birth admissions, with 46% discharged home alive. Another third of hospitalizations were for children over 1 year of age. Over 2500 major therapeutic interventions were performed over the 5 years of the study. A separate study from Canada indicated that more children with these conditions receive surgical care, ranging from minor procedures to major cardiac surgery.34 While early mortality remained very common, survival rates appeared to stabilize for both
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trisomies after several months. Of those undergoing surgery, 1-year survival was 70% for trisomy 13 and 68.6% for trisomy 18. Overall survival was 10–13% at 10 years. While these data cannot definitively attribute survival to interventions, they suggest some children may benefit from the efforts. A recent single-center review of 132 children with either trisomy 13 or 18 showed procedures increased in quantity and intensity per patient over time. In this review, 1-year survival of children undergoing at least one major procedure was 30% for trisomy 13 and 22% for trisomy 18, compared to 3% and 7%, respectively, for those without a major procedure.35 A recent, multi state, population-based study found 5-year survival to be 9.7% for trisomy 13 and 12.3% for trisomy 18.36 As in other studies, early mortality remained high; however, survival past the first week of life conferred a 60–70% chance of surviving the neonatal period. Lower mortality was associated with higher gestational age, female sex, and birth to non-Hispanic black mothers. Large differences in survival were noted by state, suggesting regional differences in the care provided for these children. A survey of parents with children living with trisomies 13 or 18 recognized increased 1-year survival of 40% with 25% of the group opting for life-sustaining interventions.37 The survey sampled from social networks and therefore excluded families who experienced fetal demise or pregnancy termination; however, the study revealed some striking findings.31 As noted previously, male gender, low birth weight, and congenital heart anomalies were associated with early mortality. However, the most important independent factor associated with survival was timing of diagnosis. Children with prenatal diagnoses most often received strict comfort care (no life-prolonging interventions), while those with a postnatal diagnosis received full interventions, “as any other children,” including mechanical ventilation, until clinicians made a definitive genetic diagnosis. At that point, clinicians and parents sometimes agreed to discontinue life support; however, in spite of treatment withdrawal, many in this group survived longer than those in the nonintervention group. The authors suggest that a trial of mechanical ventilation may provide a small survival advantage for some infants with these trisomies. In addition, neonatal care measures considered “palliative” differed based on the timing of diagnosis. Palliative care for prenatally diagnosed infants consisted mainly of warmth, skin-to-skin care and medication for comfort. Palliative care for postnatally diagnosed babies expanded to include oxygen, intravenous fluids, cardiac and apnea monitoring, caffeine, and other measures, “meant to maximize the comfort of their child.”37 Together, these findings suggest that a broader and more individualized approach to palliative care may be warranted for children with these conditions.
Parental experiences following a serious prenatal diagnosis In order to understand how changing information and practice affect parental experiences with palliative care, one must examine how parents experience perinatal diagnosis and ongoing medical care. A pregnancy complicated by a prenatal
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diagnosis of a life-threatening condition remains one of the most traumatic and life-altering experiences that befalls anyone. Parents generally anticipate a healthy baby. Finding out otherwise immediately transforms them, thrusting them into “a series of nested and time-sensitive decisions” affecting the remainder of the pregnancy and beyond.38 Given the prognostic uncertainty of many conditions, processing clinical information and making decisions place cognitive and emotional demands on the pregnant woman and her partner, though the experience generally has more impact on the expectant mother.38–40 Regardless of decisions made, parents enter a period that disrupts the developmental pathway of becoming parents,40 creating emotional shock, profound grief, and multiple losses. This experience disturbs both self-identity and relationships with others.39,41 Clinicians need at least a basic understanding of this distress to establish and maintain a compassionate, trusting parent– provider relationship. Although pregnancy termination is almost universally included in counseling,37,42,43 between 37% and 87% of parents elect to continue to term when offered the choice.2 Parents cite several reasons for doing so. While personal values guide most of these decisions, religious beliefs or attitudes about abortion do not drive all of the choices.43 Some parents base decisions on personal belief systems, unrelated to religion, in which elective termination for a serious condition or disability did not “seem right” or felt “selfish.”42 A majority of parents cite child-centered reasons, such as love for their baby and the intrinsic value of their child’s life, as justifications for continuing a pregnancy. Others offer parent-centered reasons, such as the opportunity to meet and parent their child and to avoid future regret.43 Past experiences with disability, prior pregnancy termination, and prognostic uncertainty about their child’s condition may also factor into decisions.42 Following diagnosis, parents find their pregnancy journey altered regarding two main themes: their developing identity as parents and their interactions with others.41 The personal dimension includes grief over losing a normal pregnancy and a healthy baby, an abrupt halt to the process of becoming a parent, and intense needs to legitimize the pregnancy and assert their baby’s value in spite of an adverse diagnosis. In recognizing these threats, parents often resent providers dehumanizing their baby as a “fetus,” referring to him or her as “it” and not recognizing the ongoing emotional bond between parent and child.44 Parents come to realize that their pregnancy may be their only time with the baby.40 Prenatal parenting following an adverse diagnosis can make the parenting effort more deliberate, accelerated, and compressed.41,45 This may involve seeking out specialized medical care, attending more closely to maternal health and birth planning, and taking a more active role in decision-making. Parents promote their child’s innate value and humanity by giving him or her a name, including the child in family rituals and holidays, and seeking meaning in a short life by donating breastmilk or the baby’s organs or tissue after death. Parents may seek closer physical, auditory and visual interactions with the baby both pre- and postnatally to make memories from the time they have together. Even though parents may fear attachment, many need to normalize the pregnancy and
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appreciate continuing usual obstetric management, including monitoring, ultrasound exams, and routine blood tests.43 Interactions with others often change dramatically and can result in feelings of isolation from social support systems.41 Unable to understand a situation that seems beyond comprehension, family and friends may emotionally disconnect from the affected couple, respond insensitively, or show a lack of empathy, despite good intentions. Parents report experiencing feeling socially abandoned as friends “drop off” or feel that their relationships were strained.40,46 Parents often intentionally expand or restrict their social circles depending on the situation and their coping styles.40 Furthermore, parents may struggle with sharing prenatal diagnosis and management decisions for fear of others’ judgment and/or social stigmatization of the disabled.39,41,42 Many parents perceive that others devalue their babies or their status as parents. Other couples feel that family and friends cannot understand their grief and expect them to recover quickly from their loss because they are not expected to strongly attach to their baby.44 However, one study of personal growth following an adverse prenatal diagnosis found that altered relationships with others may also prompt positive change.47 The women surveyed described increased emotional closeness to their partners and sharing experiences allowed them to find support from extended family members and develop compassion for strangers.
Potential conflict between parents and providers An adverse prenatal diagnosis can abruptly disrupt a parent’s relationship with medical providers and the entire healthcare system. Uncomfortable interactions may begin at the first indication of a problem. Parents notice when sonographers grow silent, spend extended time examining the baby, or suddenly exit the room, leaving the couple in emotional turmoil.41,48,49 During counseling sessions, parents may feel providers fail to fully disclose management options or invalidate their pregnancy and child by repeatedly promoting termination.49 Some parents feel abandoned by clinicians who offer insufficient emotional support, discontinue clinical care, or fail to offer referrals.50 Additionally, high levels of parental distress and emotions (shock, anger, sadness, etc.) can result in heightened perception of clinician insensitivity or the feeling that a provider’s impassive behavior represents a lack of empathy.51 Families worry that they may receive different care because of their decision to continue the pregnancy. Many mothers perceive that their obstetric providers focused exclusively on maternal safety, with resultant substandard care for their baby.42,49 The experiences reported by families emphasizes the critical importance of healthcare providers recognizing how their own personal beliefs and biases influence their interactions with parents and their recommendations for decisionmaking. Provider bias, though in some ways inevitable, may reflect social stereotyping and represents reductionist thinking, ultimately acting to counter patient best interest or undermine autonomy. Biased language alone may promote self-fulfilling prophecies.52,53 Once a condition acquires the label of lethal, based on historical statistics about individuals
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who generally received no treatment, those data “justify” nonintervention and result in continued poor outcomes. In social media and support groups, families cite providers’ use of the terms “lethal disorder” and “incompatible with life” as emotionally charged terms that devalue their children.31 As noted, these terms remains ambiguous53 because of growing numbers of long-term survivors54,55 and a wide range of phenotypes. The concept of “medical futility” similarly involves a lack of definitional clarity and problems in assessing individual cases. Its use may reflect a provider’s need to limit patient/parent autonomy by ending conversations and the withholding of requested treatment.55 Historically, a consensus among obstetricians has favored maternal-based care and nonintervention for fetuses with serious genetic conditions. Chervenak and McCullough assert that severe fetal anomalies place ethical limits on both providers’ and parents’ beneficence-based obligations to the fetus with a high probability of either death or survival with severe developmental disability. In their view, for these conditions “the fetal patient should be considered a dying patient” and aggressive management is not obligatory; however, more active management can be considered and offered. These authors assert that honoring requests for caesarian section may be reasonable for maternal psychosocial reasons, notably hope for a live birth.56 Similarly, neonatologists have demonstrated a tacit consensus that babies with lethal anomalies should not undergo delivery room resuscitation and that intensive care measures which cause pain are “futile.” The understanding that terms such as lethal and futile are rarely useful for families should prompt changes in what neonatologists say and offer. Increasingly, though, shared decision-making has resulted in more variation in delivery room and neonatal management.57 Some providers may abandon the above outmoded language but still feel poor “quality of life” should compel withholding treatment. Historically, clinicians often used the term as a synonym for severe, irreversible physical or neurological impairment,52,53 suggesting an automatic negative normative response. Indeed, the phrases “lethal anomaly” and “quality of life” are often linked. It has been well documented, however, that clinicians often judge individuals’ quality of life much more negatively than parents and families and that providers underestimate the developmental potential and positive contribution of these children to the lives of their families.19,30–32,43,58
Aligning parents and providers Providers may observe that as parents’ identities transform with an adverse diagnosis, the families become fervent advocates for the child in healthcare decisions.40,45,49 While consultation with multiple disciplines can help allay fears and offer confidence that the baby will receive specialized care, it can also result in fragmented care and poor communication among providers or staff members.41,50,51,59 A dedicated care coordinator assigned to a family can help establish trust in other professionals, improve communication between services, and help care proceed more smoothly.59,60 Parents especially appreciate “special” healthcare providers
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who deliver balanced and personalized information, offer choices, respect the baby and parental decisions, and provide emotional support.43,44,49,50 Parents need providers to invite expressions of their hopes, fears, and goals for their child and, whenever possible, allow these to guide management decisions. Once parents understand the diagnosis and its implications, they begin to rethink their goals for the pregnancy and their child’s life.40 In a survey of members of a trisomy 13 and 18 online support group, 80% of parents mentioned that a major goal became meeting their child alive in the delivery room or nursery.37,43 Other goals included being together as a family (72%), giving their child a good life (66%), and bringing their child home (52%). A total of 61% of parents desired giving their child a chance at survival, but did not want living to come at the expense of excessively burdensome interventions and lifelong hospitalization.37 About 20% of parents expressed hope that their child would exceed expectations or be among the rare survivors and only a few parents (4%) hoped for either a misdiagnosis or a miracle.43 An overarching goal of parents facing adverse fetal diagnoses is to “have no regrets” and feel they “did the best that they could for their baby.”40 Providers need to ask parents specifically about their goals and try to achieve what matters most to the family, especially surrounding end-of-life care. Often parents carry hopes they silently cultivate over time. Unless providers ask, these wishes may remain unfulfilled and may serve as a source of regret.61 Healthcare providers hold a unique position to help fulfill families’ profoundly meaningful desires, which, in turn, can be deeply moving for staff.
Conclusion Emerging medical and psychosocial evidence suggests that nuanced and individualized approaches to perinatal palliative care are warranted for babies with life-threatening or life-limiting conditions. A one-size-fits-all model of nonintervention may not serve the best interest of every child and may not align with a family’s values and goals for care.12,13 At present, a number of serious medical conditions, including trisomy 13 and trisomy 18, have no prospect of cure in the strictest sense. Given the high degree of perinatal mortality even among those receiving intensive care, there will remain patients for whom procedures may prove burdensome, inflict unnecessary suffering, and even hasten death. For these children, comfort care with limited intervention and intense emotional support remains appropriate. At the same time, providers may find guidance from combining growing evidence about the factors affecting survivorship and interventions that may reduce morbidity. Clinicians should consider strategic observation of a patient’s stability over time and balance this with family goals and values in selecting appropriate and ethically sound clinical care.12,13,37 In this way, consistent with the spirit of family-centered perinatal palliative care, clinicians and parents can share decisions about medical and surgical interventions to ameliorate the burden of disability and improve quality of life for individual children. Providers from multiple clinical disciplines should promote open communication, recognize bias and areas of
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uncertainty, and allow families to express values, fears, and overall goals from early in the relationship and along every step of the decision-making process.62 In this emerging age of personalized medicine, individualized care should extend even to palliative care in the smallest, most vulnerable patients.
refere nces
1. CDC. Update on overall prevalence of major birth defects— Atlanta, Georgia 1978–2005. Morbid Mortal Wkly Rep. 2008;57(1): 1–5. 2. Balaguer Albert, Ana Martín-Ancel, Dario Ortigoza-Escobar, Joaquin Escribano, Josep Argemi. The model of palliative care in the perinatal setting: a review of the literature. BMC Pediatr. 2012;12(1):25–32. 3. Hoeldtke Nathan J, Byron C Calhoun. Perinatal hospice. Am J Obstet Gynecol. 2001;185(3):525–529. 4. Leuthner Steven R. Palliative care of the infant with lethal anomalies. Pediatr Clin North Am. 2004;51(3):747–759. 5. Munson David, Leuthner Steven R. Palliative care for the family carrying a fetus with a life-limiting diagnosis. Pediatr Clin North Am. 2007;54(5):787–798. 6. Pierucci Robin L, Kirby Russell S, Leuthner Steven R. End-oflife care for neonates and infants: the experience and effects of a palliative care consultation service. Pediatrics. 2001;108 (3):653–660. 7. Catlin Anita, Carter Brian. Creation of a neonatal end-of-life palliative care protocol. Neonatal Netw. 2002;21(4):37–49. 8. Hui Lisa, Bianchi Diana W. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genetics. 2013;29(2):84–91. 9. Miquel-Verges Franscesca, et al. Prenatal consultation with a neonatologist for congenital anomalies: parental perceptions. Pediatrics. 2009;124(4):e573–e579. 10. Gaucher N, Payot Antoine. From powerlessness to empowerment: mothers expect more than information from the prenatal consultation for preterm labour. Paediatr Child Health. 2011;16(10):638–642. 11. Lemmon Monica E, et al. Communication challenges in neonatal encephalopathy. Pediatrics. 2016;138(3):e20161234. 12. Lorenz John M, Hardart George E. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr. 2014;26(2):169–176. 13. McCaffrey Martin J. Trisomy 13 and 18: selecting the road previously not taken. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):251–256. 14. Bos AP, et al. Avoidance of emergency surgery in newborn infants with trisomy 18. The Lancet. 1992;339(8798):913–915. 15. Wyllie Jonathan P, et al. Natural history of trisomy 13. Arch Dis Child. 1994;71(4):343–345. 16. Embleton ND, et al. Natural history of trisomy 18. Arch Dis Child—Fetal Neonatal Ed. 1996;75(1):F38–F41. 17. Rasmussen Sonja A, et al. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111 (4):777–784. 18. Niedrist D, et al. Survival with trisomy 18—data from Switzerland. Am J Med Genet A. 2006;140(9):952–959. 19. Cereda Anna, Carey John C. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7(1):81–94. 20. Morris Joan K, Savva George M. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008;146(7):827–832. 21. Burke Annette L, Field Katie, Morrison John J. Natural history of fetal trisomy 18 after prenatal diagnosis. Arch Dis Child— Fetal Neonatal Ed. 2013;98(2):F152–F154.
6
SE
M I N A R S I N
P
E R I N A T O L O G Y
22. Baty Bonnie J, Blackburn Brent L, Carey John C. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994;49(2):175–188. 23. Kosho Tomoki, et al. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A. 2006;140(9):937–944. 24. Tsukada Keiko, et al. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63(3):191–198. 25. Kaneko Yukihiro, et al. Cardiac surgery in patients with trisomy 18. Pediatr Cardiol. 2009;30(6):729–734. 26. Muneuchi Jun, et al. Outcomes of cardiac surgery in trisomy 18 patients. Cardiol Young. 2010;21(2):209–215. 27. Maeda Jun, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A. 2011;155(11):2641–2646. 28. Merritt T Allen, et al. Trisomy 18 and Trisomy 13. NeoReviews. 2012;13(1):e40–e48. 29. Janvier Annie, Watkins Andrew. Medical interventions for children with trisomy 13 and trisomy 18: what is the value of a short disabled life? Acta Paediatr. 2013;102(12):1112–1117. 30. Kosho Tomoki, et al. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group. Am J Med Genet A. 2013;161(7):1531–1542. 31. Janvier Annie, Farlow Barbara, Wilfond Benjamin S. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics. 2012;130(2):293–298. 32. Baty Bonnie J, et al. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. 1994;49(2):189–194. 33. Nelson Katherine E, Hexem Kari R, Feudtner Chris. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics. 2012;129(5):869–876. 34. Nelson Katherine E, et al. Survival and surgical interventions for children with trisomy 13 and 18. J Am Med Assoc. 2016;316 (4):420–428. 35. Josephsen Justin B, et al. Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐ center review. Am J Med Genet Part C: Semin Med Genet. 2016;172 (3):264–271. 36. Meyer Robert E, et al. Survival of children with trisomy 13 and trisomy 18: a multi‐state population‐based study. Am J Med Genet A. 2015;170A(4):825–837. 37. Janvier Annie, Farlow Barbara, Barrington Keith J. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):279–287. 38. Sandelowski Margarete, Barroso Julie. The travesty of choosing after positive prenatal diagnosis. J Obstet Gynecol Neonatal Nurs. 2005;34(3):307–318. 39. Howard Elisabeth D. Family‐centered care in the context of fetal abnormality. J Perinat Neonatal Nurs. 2006;20(3):237–242. 40. Côté-Arsenault Denise, Denney-Koelsch Erin. “Have no regrets:” Parents’ experiences and developmental tasks in pregnancy with a lethal fetal diagnosis. Soc Sci Med. 2016;154(10):100–109. 41. Côté-Arsenault Denise, Denney-Koelsch Erin. “My baby is a person”: parents’ experiences with life-threatening fetal diagnosis. J Palliat Med. 2011;14(12):1302–1308. 42. Redlinger‐Grosse Krista, et al. The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet. 2002;112 (4):369–378.
] (2016) ]]]–]]]
43. Guon Jennifer, et al. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet A. 2014;164(2):308–318. 44. Lathrop Anthony, VandeVusse Leona. Affirming motherhood: validation and invalidation in women0 s perinatal hospice narratives. Birth. 2011;38(3):256–265. 45. Côté-Arsenault Denise, Krowchuk Heidi, Hall Wendasha Jenkins, Denney-Koelsch Erin. We want what’s best for our baby: prenatal parenting of babies with lethal conditions. J Prenat Perinat Psychol Health. 2015;29(3):157–176. 46. Hickerton Chriselle L, et al. Did you find that out in time? New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet A. 2012;158(2):373–383. 47. Black Beth, Sandelowski Margarete. Personal growth after severe fetal diagnosis. West J Nurs Res. 2010;32(8):1011–1030. 48. Locock Louise, Crawford Jane, Crawford Jon. The parents’ journey: continuing a pregnancy after a diagnosis of Patau’s syndrome. Br Med J. 2005;331(7526):1186–1189. 49. Walker LV, Miller VJ, Dalton VK. The health-care experiences of families given the prenatal diagnosis of trisomy 18. J Perinatol. 2008;28(1):12–19. 50. Thiele Pauline. Going against the grain: Liam’s story. J Paediatr Child Health. 2011;47(9):656–658. 51. Chitty Lyn S, Barnes Chris A, Berry Caroline. Continuing with pregnancy after a diagnosis of lethal abnormality: experience of five couples and recommendations for management. Br Med J. 1996;313:478–480. 52. Koogler Tracy K, Wilfond Benjamin S, Ross Lainie Friedman. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33 (2):37–41. 53. Lantos John D. Trisomy 13 and 18—treatment decisions in a stable Gray zone. J Am Med Assoc. 2016;316(4):396–398. 54. Tosello Barthélémy, et al. Lethal fetal abnormalities: how to approach perinatal palliative care? J Matern—Fetal Neonatal Med. 2016(6):1–13. 55. Wilkinson DJC, et al. Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK. Prenat Diagn. 2014;34(1):42–49. 56. Chervenak Frank, McCullough Laurence B. Responsibly counselling women about the clinical management of pregnancies complicated by severe fetal anomalies. J Med Ethics. 2012;38 (7):397–398. 57. McGraw Melanie P, Perlman Jeffrey M. Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics. 2008;121(6):1106–1110. 58. Payot Antoine, Barrington Keith J. 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. 59. Catlin Anita, et al. From diagnosis to birth: Parents0 experience when expecting a child with congenital anomaly. Adv Neonatal Care. 2008;8(6):348–354. 60. Wool Charlotte. State of the science on perinatal palliative care. J Obstet Gynecol Neonatal Nurs. 2013;42(3):372–382. 61. Carter BS, et al. Four wishes for Aubrey. J Perinatol. 2012;32(1): 10–14. 62. Andrews Sasha E, et al. Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am J Med Genet Part C: Semin Med Genet. 2016;172C(3):1–7.