Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care.

This report is informed by the themes of the session Trisomy 13/18, Exploring the Changing Landscape of Interventions at NeoHeart 2020-The Fifth International Conference of the Neonatal Heart Society. The faculty reviewed the present evidence in the management of patients and the support of families in the setting of trisomy 13 and trisomy 18 with congenital heart disease. Until recently medical professionals were taught that T13 and 18 were "lethal conditions" that were "incompatible with life" for which measures to prolong life are therefore ethically questionable and likely futile. While the medical literature painted one picture, family support groups shared stories of the long-term survival of children who displayed happiness and brought joy along with challenges to families. Data generated from such care shows that surgery can, in some cases, prolong survival and increase the likelihood of time at home. The authors caution against a change from never performing heart surgery to always-we suggest that the pendulum of intervention find a balanced position where all therapies including comfort care and surgery can be reviewed. Families and clinicians should typically be supported and empowered to define the best care for their children and patients. Key concepts in communication and case vignettes are reviewed including the importance of supportive relationships and the fact that palliative care may serve as an additional layer of support for decision-making and quality of life interventions. While cardiac surgery may be beneficial in some cases, surgery should not be the primary focus of initial family education and support.

Building trust and improving communication with parents of children with Trisomy 13 and 18: A mixed-methods study.

BACKGROUND: Trisomy 13 and trisomy 18 are common life-limiting conditions associated with major disabilities. Many parents have described conflictual relationships with clinicians, but positive and adverse experiences of families with healthcare providers have not been well described. AIM: (1) To investigate parental experiences with clinicians and (2) to provide practical recommendations and behaviors clinicians could emulate to avoid conflict. DESIGN: Participants were asked to describe their best and worse experiences, as well as supportive clinicians they met. The results were analyzed using mixed methods. SETTING/PARTICIPANTS: Parents of children with trisomy 13 and 18 who were part of online social support networks. A total of 503 invitations were sent, and 332 parents completed the questionnaire about 272 children. RESULTS: The majority of parents (72%) had met a supportive clinician. When describing clinicians who changed their lives, the overarching theme, present in 88% of answers, was trust. Parents trusted clinicians when they felt he or she cared and valued their child, their family, and made them feel like good parents (69%), had appropriate knowledge (66%), and supported them and gave them realistic hope (42%). Many (42%) parents did not want to make-or be part of-life-and-death decisions. Parents gave specific examples of supportive behaviors that can be adopted by clinicians. Parents also described adverse experiences, generally leading to conflicts and lack of trust. CONCLUSION: Realistic and compassionate support of parents living with children with trisomy 13 and 18 is possible. Adversarial interactions that lead to distrust and conflicts can be avoided. Many supportive behaviors that inspire trust can be emulated.

The 'ouR-HOPE' approach for ethics and communication about neonatal neurological injury.

Predicting neurological outcomes of neonates with acute brain injury is an essential component of shared decision-making, in order to guide the development of treatment goals and appropriate care plans. It can aid parents in imagining the child's future, and guide timely and ongoing treatment decisions, including shifting treatment goals and focusing on comfort care. However, numerous challenges have been reported with respect to evidence-based practices for prognostication such as biases about prognosis among clinicians. Additionally, the evaluation or appreciation of living with disability can differ, including the well-known disability paradox where patients self-report a good quality of life in spite of severe disability. Herein, we put forward a set of five practice principles captured in the "ouR-HOPE" approach (Reflection, Humility, Open-mindedness, Partnership, and Engagement) and related questions to encourage clinicians to self-assess their practice and engage with others in responding to these challenges. We hope that this proposal paves the way to greater discussion and attention to ethical aspects of communicating prognosis in the context of neonatal brain injury.

Measuring and communicating meaningful outcomes in neonatology: A family perspective.

Medium- and long-term outcomes have been collected and described among survivors of neonatal intensive care units for decades, for a number of purposes: (1) quality control within units, (2) comparisons of outcomes between NICUs, (3) clinical trials (whether an intervention improves outcomes), (4) end-of-life decision-making, (5) to better understand the effects of neonatal conditions and/or interventions on organs and/or long-term health, and finally (6) to better prepare parents for the future. However, the outcomes evaluated have been selected by investigators, based on feasibility, availability, cost, stability, and on what investigators consider to be important. Many of the routinely measured outcomes have major limitations: they may not correlate well with long-term difficulties, they may artificially divide continuous outcomes into dichotomous ones, and may have no clear relationship with quality of life and functioning of children and their families. Several investigations, such as routine term cerebral resonance imaging for preterm infants, have also not yet been shown to improve the outcome of children nor their families. In this article, the most common variables used in neonatology as well as some variables which are rarely measured but may be of equal importance for families are presented. The manner in which these outcomes are communicated to families will be examined, as well as recommendations to optimize communication with parents.

Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18.

Trisomy 13 and 18 are life-limiting conditions for which a palliative approach is frequently recommended. The objective of this study was to examine parental goals/decisions, the length of life of their child and factors associated with survival. Parents of children who lived with trisomy 13 or 18 that were part of English-speaking social networks were invited to participate in a questionnaire study. Participants answered questions about their hopes/goals, decisions regarding neonatal interventions, and the duration of their children's lives. The participants were 332 parents who answered questions about their 272 children (87% response rate based on site visits; 67% on invitations sent). When parents were asked about their hope after the diagnosis, the main themes invoked by parents were the following: meet their child alive (80% of parents with a prenatal diagnosis), spend some time as a family (72%), bring their child home (52%), and give their child a good life (66%). Parents wanted to give them a chance, but also reported their fears were medical complexity, pain and/or life in the hospital (61%). Healthcare providers recommended comfort care at birth to all parents. Life-sustaining interventions "as for any other child" was chosen as a plan of care by 25% of parents. Of the 216 children with full trisomy, 69% were discharged home after birth and 40% lived >1 y. The presence of a prenatal diagnosis was the strongest independent factor negatively associated with longevity: 36% of children with a prenatal diagnosis lived <24 hr and 47% were discharged home compared to 1% and 87%, respectively for children with a postnatal diagnosis (P < 0.01). Male gender, low-birth weight, and cardiac and/or cerebral anomaly were also associated with decreased survival (P < 0.05). After a prenatal diagnosis, palliative care at birth consisted of limited interventions, whereas after a postnatal diagnosis (median age of 6 days) it consisted of various interventions, including oxygen, ventilation, tube feeding and intravenous fluids, complicating the analysis. In conclusion, the goals of parents of children with trisomy 13 or 18 were to meet their child, be discharged home and be a family. Having a postnatal diagnosis was the independent factor most associated with these goals. Children with a postnatal diagnosis were treated "as any other children" until the diagnosis, which may give them a survival advantage, independent of palliative care. Rigorous transparency regarding specific interventions and outcomes may help personalize care for these children. © 2016 Wiley Periodicals, Inc.

Cardiac surgery for children with trisomies 13 and 18: Where are we now?

The objective is to examine whether cardiac surgery should be considered for children with trisomy 13 or 18 (T13 or 18).T13 or 18 were previously referred to as "lethal" conditions due to high mortality rates and severe disability among survivors. In the last decade, investigations have revealed these conditions are heterogeneous, with increasing numbers of studies describing interventions for these children. A number of factors makes the interpretation of reported outcomes after cardiac surgery challenging: (1) dissimilarities in practice lead to a wide variation in reported outcomes after cardiac surgery; (2) cardiac surgery is generally offered to older, healthier children; (3) cardiac surgeries of widely varying risks are often lumped together in individual studies, and (4) cases where cardiac surgery has been withheld are generally not included in publications. It is unclear whether withholding cardiac surgery for some children with a ventricular septal defect will lead to death, or the development of pulmonary hypertension, or if death will occur from other causes. In this article, we describe two children with different clinical situations and examine whether cardiac surgery would benefit them and how to communicate with their families. Cardiac surgery may be beneficial to some children with trisomy 13 or 18, but may harm others. Every child should be approached in an individual fashion and the goals of each family should be addressed. Children who are more likely to benefit from surgery may be older, healthier children without respiratory support. Rigorous and transparent research is needed to identify factors that affect survival in trisomy 13 or 18.

The ethics of neonatal research: An ethicist's and a parents' perspective.

The ethics of neonatal research are complex because vulnerable new parents are asked to provide consent on behalf of their fragile baby. Whereas clinical neonatal care has evolved to value personalized and shared decision-making, the goal of research ethics is still to standardize the informed consent process and make it as complete and thorough as possible. Ethicists, lawyers and physicians have shaped the field of research ethics and consent for research. The goal of detailed informed consent is to protect participants from harm, but procedures were developed without input from the principal stakeholders: ex-neonatal intensive care unit parents/patients. Empirical investigations examining patient and parental perspectives on research and research ethics are lacking. Rigorous investigations are needed to determine how parents of sick neonates want their families to be protected, knowing that a lack of research is also harmful. Large randomized controlled multicenter trials will always be needed to improve neonatal outcomes. These trials are costly and time-consuming. Currently, the way in which research is funded and regulated and the way in which academic merit is recognized lead to inefficiency and a waste of precious resources. Following a review of the history of research ethics, this article examines and discusses the ethics of research in neonatology. In addition, challenges and opportunities are identified and ideas for future investigations are proposed.

End-of-life decisions for extremely low-gestational-age infants: why simple rules for complicated decisions should be avoided.

Interventions for extremely preterm infants bring up many ethical questions. Guidelines for intervention in the "periviable" period generally divide infants using predefined categories, such as "futile," "beneficial," and "gray zone" based on completed 7-day periods of gestation; however, such definitions often differ among countries. The ethical justification for using gestational age as the determination of the category boundaries is rarely discussed. Rational criteria used to make decisions regarding life-sustaining interventions must incorporate other important prognostic information. Precise guidelines based on imprecise data are not rational. Gestational age-based guidelines include an implicit judgment of what is deemed to be an unacceptably poor chance of "intact" survival but fail to explore the determination of acceptability. Furthermore, unclear definitions of severe disability, the difficulty, or impossibility, of accurately predicting outcome in the prenatal or immediate postnatal period make such simplistic formulae inappropriate. Similarly, if guidelines for intervention for the newborn are based on the "qualitative futility" of survival, it should be explicitly stated and justified according to established ethical guidelines. They should discuss whether newborn infants are morally different to older individuals or explain why thresholds recommended for intervention are different to recommendations for those in older persons. The aim should be to establish individualized goals of care with families while recognizing uncertainty, rather than acting on labels derived from gestational age categories alone.

Communication with parents concerning withholding or withdrawing of life-sustaining interventions in neonatology.

The nature and content of the conversations between the healthcare team and the parents concerning withholding or withdrawing of life-sustaining interventions for neonates vary greatly. These depend upon the status of the infant; for some neonates, death may be imminent, while other infants may be relatively stable, yet with a potential risk for surviving with severe disability. Healthcare providers also need to communicate with prospective parents before the birth of premature infants or neonates with uncertain outcomes. Many authors recommend that parents of fragile neonates receive detailed information about the potential outcomes of their children and the choices they have provided in an unbiased and empathetic manner. However, the exact manner this is to be achieved in clinical practice remains unclear. Parents and healthcare providers may have different values regarding the provision of life-sustaining interventions. However, parents base their decisions on many factors, not just probabilities. The role of emotions, regret, hope, quality of life, resilience, and relationships is rarely discussed. End-of-life discussions with parents should be individualized and personalized. This article suggests ways to personalize these conversations. The mnemonic "SOBPIE" may help providers have fruitful discussions: (1) What is the Situation? Is the baby imminently dying? Should withholding or withdrawing life-sustaining interventions be considered? (2) Opinions and options: personal biases of healthcare professionals and alternatives for patients. (3) Basic human interactions. (4) Parents: their story, their concerns, their needs, and their goals. (5) Information: meeting parental informational needs and providing balanced information. (6) Emotions: relational aspects of decision making which include the following: emotions, social supports, coping with uncertainty, adaptation, and resilience. In this paper, we consider some aspects of this complex process.

Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18.

Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P < 0.05). Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families.

The experience of families with children with trisomy 13 and 18 in social networks.

BACKGROUND: Children with trisomy 13 and trisomy 18 (T13-18) have low survival rates and survivors have significant disabilities. For these reasons, interventions are generally not recommended by providers. After a diagnosis, parents may turn to support groups for additional information. METHODS: We surveyed parents of children with T13-18 who belong to support groups to describe their experiences and perspectives. RESULTS: A total of 503 invitations to participate were sent and 332 questionnaires were completed (87% response rate based on site visits, 67% on invitations sent) by parents about 272 children. Parents reported being told that their child was incompatible with life (87%), would live a life of suffering (57%), would be a vegetable (50%), or would ruin their family (23%). They were also told by some providers that their child might have a short meaningful life (60%), however. Thirty percent of parents requested "full" intervention as a plan of treatment. Seventy-nine of these children with full T13-18 are still living, with a median age of 4 years. Half reported that taking care of a disabled child is/was harder than they expected. Despite their severe disabilities, 97% of parents described their child as a happy child. Parents reported these children enriched their family and their couple irrespective of the length of their lives. CONCLUSIONS: Parents who engage with parental support groups may discover an alternative positive description about children with T13-18. Disagreements about interventions may be the result of different interpretations between families and providers about the experiences of disabled children and their quality of life.

An infant with trisomy 18 and a ventricular septal defect.

Decisions for critically ill infants with trisomy 18 raise thorny issues about values, futility, the burdens of treatment, cost-effectiveness, and justice. We presented the case of an infant with trisomy 18 to 2 neonatologists with experience in clinical ethics, Annie Janvier and Felix Okah, and to a parent, Barbara Farlow. They do not agree about the right thing to do.

Making existing technology safer in healthcare.

BACKGROUND: Technology, equipment and medical devices are vital for effective healthcare throughout the world but are associated with risks. These risks include device failure, inappropriate use, insufficient user-training and inadequate inspection and maintenance. Further risks within the developing world include challenging conditions of temperature and humidity, poor infrastructure, poorly trained service providers, limited resources and supervision, and inappropriately complex equipment being supplied without backup training for its use or maintenance. METHODS: This document is the product of an expert working group established by WHO Patient Safety to define the measures being taken to reduce these risks. It considers how the provision of safer technology services worldwide is being enhanced in three ways: through non-punitive and open reporting systems of technology-related adverse events and near-misses, with classification and investigation; through healthcare quality assessment, accreditation and certification; and by the investigation of how appropriate design and an understanding of the conditions of use and associated human factors can improve patient safety. RESULTS AND DISCUSSION: Many aspects of these steps remain aspirational for developing countries, where highly disparate needs and a vast range of technology-related problems exist. Here, much greater emphasis must be placed on failsafe, durable and user-friendly design--examples of which are described.

"Identifying the hospitalised patient in crisis"--a consensus conference on the afferent limb of rapid response systems.

BACKGROUND: Most reports of Rapid Response Systems (RRS) focus on the efferent, response component of the system, although evidence suggests that improved vital sign monitoring and recognition of a clinical crisis may have outcome benefits. There is no consensus regarding how best to detect patient deterioration or a clear description of what constitutes patient monitoring. METHODS: A consensus conference of international experts in safety, RRS, healthcare technology, education, and risk prediction was convened to review current knowledge and opinion on clinical monitoring. Using established consensus procedures, four topic areas were addressed: (1) To what extent do physiologic abnormalities predict risk for patient deterioration? (2) Do workload changes and their potential stresses on the healthcare environment increase patient risk in a predictable manner? (3) What are the characteristics of an "ideal" monitoring system, and to what extent does currently available technology meet this need? and (4) How can monitoring be categorized to facilitate comparing systems? RESULTS AND CONCLUSIONS: The major findings include: (1) vital sign aberrations predict risk, (2) monitoring patients more effectively may improve outcome, although some risk is random, (3) the workload implications of monitoring on the clinical workforce have not been explored, but are amenable to study and should be investigated, (4) the characteristics of an ideal monitoring system are identifiable, and it is possible to categorize monitoring modalities. It may also be possible to describe monitoring levels, and a system is proposed.