Chapters Transcript Video The Evolving Landscape in the Care of Infants with Trisomy 13 and 18 I have the distinct honor of introducing dr Nandita Mamdani, I was lucky enough to learn lessons in both neonatology and in life from her during all three years of my residency, she is a neonatologist who enjoys managing complex medical and surgical problems and considers it an honor to walk with families on some of the most challenging journeys of their lives. She has special interests in neonatology or neonatal neurology, rather gastrointestinal disorders and extreme prematurity, as well as medical ethics, palliative care and teaching residents. She earned her medical degree at the Chattisgarh Institute of Medical Sciences in India. She then completed residency at Einstein Medical Center in Philly and fellowship at Emory University, having resided in three different countries and witnessing the common thread of humanity everywhere. She is passionate about bridging differences, focusing on common goals and harnessing people's goodness wherever she goes. So take it away Nandita, thank you, thank you, Sheila. All right, good morning everybody and thank you for joining me today as we talk about this um um important topic and very relevant topic, I think. So, I'm going to talk about the evolving landscape in the care of infants with trisomy 13 and 18 and I have nothing to disclose And here are my objectives. So, my hope is to be able to describe the historical context in the management of infants which drives me 13 and 18 to examine the recent literature and outcomes and approaches in the care of these infants to recognize parental perspectives on lives with infants which rise me 13 and 18. And finally, to assess recommendations and next steps in the care of these infants. So let's get started with. First talking about the prevalence of trisomy 18 and 13, which I believe many of us attending this today are probably aware already. Um, trisomy 18 is the second most common order symbol. Trisomy, trisomy 13 is the third most common. The live bond prevalence of trisomy 18 is estimated at one in 6 to 8000 infants. For the overall prevalence is actually estimated to be higher. That is one in 25 to 2600 and that is because of the high frequency of fetal loss and pregnancy termination. After a prenatal diagnosis. The live on prevalence of trisomy 13 is less so one in 10 to 15,000 birds, but the overall prevalence is higher as estimated with trisomy 18, that is one in 6000 birds. Trisomy 13 and 18 presentations is what I'm going to talk about next. And the goal of my presentation today is really not to go into the clinical presentation and the fino typical aspect of these of these trees means, but more a big picture directional directionality sort of perspective. And so for this slide, I'm going to focus on the genetics of trisomy 13 and 18 and the most common presentation is a full trisomy And what that means is that there is an extra chromosome whether 13 or 18 in all somatic cell lines. 1% of affected patients to present with mosaic trisomy, which means that there is an extra chromosome in some cells and 8% have a partial trisomy, in which there is a fragment of either trisomy 13 or 18. An extra fragment in all cell lines. And these variations have been associated with greater survival. A seven year study in England and Wales found a one year survival of 80% in mosaic drives me 13 70% in mosaic trisomy 18 and 29% impartial drives me 13 and there were no partial trisomy 18 cases. But if you look at the numbers and we'll talk about survival overall, these numbers are much higher. So talking about common causes of death in these, in these infants, 40-60% of fetuses diagnosed with trisomy 13 or 18 are electively or spontaneously dominated. The major causes of death after birth include central apnea, cardiac failure due to cardiac malformations and former hypertension, respiratory insufficiency due to hyperventilation and aspiration and upper airway obstruction and likely the combination of these and other factors, including decisions regarding intensive care. Briefly talking about survival in the first year and this is what I'm going to talk about in great detail in the coming slides and when we talk about the evidence, but just to give you guys a big picture perspective, about half of these babies survived the first week. So 30 to 56% survived the first week, 11 to 44% survived the first month, 33% survived the third month And about 3-15% survive six months. And survival up to one year of life is 2-5 to 15%. Again, these numbers are fairly broad and we'll discuss them more so. And this is one of the focuses of my presentations to talk about the dilemma. The reason why this is a topic that is being actively discussed in the neonatology and ethics, community and palliative care community. And um what is, what is the reason that positions are taking a little bit of a pause in how we approach infants with this diagnosis. And over the years, there has been a tremendous amount of debate amongst both parents and healthcare professionals about whether it's appropriate to provide expensive, painful and invasive procedures to infants with these diagnosis, if the only known outcome is either death or severe neurocognitive impairment. So there are multiple sides of the debate and we're going to talk about the one side which talks about the potential experience of pain and suffering and the perception of uniformly totality. There's also the concept of the fact that care can be futile in these infants. Although futility should be based on the goals of care and who is defining these goals. And what are these goals? And then is the argument of allocation of scarce resources, which also as the ethical principle of justice demands that equal patients should be treated equally. So if you're adopting this argument and should be applied to other diagnoses with similar outcomes as well. And on the other side of the debate is the argument of the value of preserving life and that cognitive impairment does not lead to pain or suffering, and that discomfort of many interventions is temporary and that surgical procedures have improved outcomes. And so the uniformly fatality is not true anymore. So a little bit of historical context of where we started and where and you know, give us to give us a little perspective on where we are today. Um non treatment of trisomy 21, as many of us know, was actually routine in the 50s and 60s and was supported by leading pediatricians and theologians. And this is a statement from an article published in the 1960s, in the Atlantic. And this is a hard statement. Just a caveat before I actually read it. Um, people have no reason to feel guilty about putting a down syndrome baby away. Whether it's put away in the sense of hidden in a sanitarium or in a more responsible, lethal sense. It is sad, yes, dreadful, but it carries no guilt. True guilt arises only from an offense against a person and a Down's is not a person. Every time I read this, it is disturbing Just to give everybody a bit of context on where we were in the 1960s. Um, so moving on to the 1980s, there was a well well publicized case of a new born with down syndrome baby Doe, who you may have heard about post parents chose not to pursue surgery and that case got a lot of attention and led to a change in regulations. By the 1990s, discussions on selective non treatment of newborns with seizures. Anomalies began to focus on newborns with trisomy 13 and 18. Since the discussion about trisomy 21 had then evolved quite a bit um in 2005 A. P. S. And neonatal resuscitation guidelines included trisomy 13 and 18 in the list of conditions for which resuscitation is not indicated. In 2006, Trisomy 18 was removed from the above list and in 2010ha guidelines made similar recommendations on the basis of unacceptably high morbidity. However, there was a simultaneous shift in neurologist attitudes regarding how we resuscitate these infants with 44% of providers reporting in in a in a survey that was done in 2008 and that they would consider initiation of resuscitation for an infant to trisomy, 18 even with congenital heart, disease. one of the reasons for this shift has been parental advocacy, as well as physicians and ethicists arguing that for at least some of these infants and Children, lethality is a self fulfilling prophecy by the medical community. A self fulfilling prophecy, One that um when we hold we hold onto a belief which influences our expectations, which influences our behavior, which influences our results and reinforces our beliefs. More and more interventions as we know are now available in medicine that are improving survival. Whether it's for preemies at the age at the cusp of viability, whether it's for hypoplastic left heart sits infants with forgetting tricks and G tubes, but with increased survival comes increased risk. So the question then is should we intervene and ideally you want to use data to answer this question. However, the data we look at can be reflective of our values, both as an individual or as a group. And so with that caveat and encouraging us to be mindful of our biases. Let's go ahead and look at some of the data that we have. So speaking of survival and outcomes. Um prior to 2016 population studies for the most part show the survival. Um one year survival in both trisomy 13 and 18 ranging from 0 to 6 to 8%. Only 6 to 8% of these babies lived up to a year of age, which is traditionally what was taught and what we used to support two families when we would do consults or talk to them after birth, when the diagnosis was made in 2016. However, there were two big population based studies that came out. Um One done by the Myers group that was done in the United States and they looked at nine states based uh population registries and what they found was the population was that the survival had almost doubled. So the one year survival in trisomy 13 at that point was 11.5% and it tries to meet 18 was 13.4%. And the five year survival for instance, which drives me 13 was close to 10% and drives the meeting was close to 12% in the same year. Catherine nelson's group up in Canada also published another population based study and her numbers published in that study were also fairly high compared to what was previously known. The one year survival for trisomy 13 was close to 20%. Trisomy 18 was close to 13% and the 10 year survival of trisomy 13 was 13% trisomy 18 was close to 10%. So, again, these numbers are not large and you know, there was still, and there continues to be a pretty significantly high mortality, but there was improvement and that needs to be noted. And as well as the fact that what was interesting in these studies was that most infants, if they were to make it to the one year time point, it seemed like many of them would make it to the five and 10 year time point as well. So that was also an interesting finding of these big population based studies of note in both of these investigations. The early neonatal mortality in the first week of life and the median survival were quite similar to the previous studies. The median survival in nelson study was seven days for trisomy 13 and about 15 days for trisomy 18. In the mire study was five days for trisomy 13 and eight days for trisomy 18. And the medium mortality in the first week of life was close to 50% across many registers, half of which occurred on the first day of life. So this is another important study that is often quoted in any article you read on infants with trisomy 18, even though it's an old study but had pretty dramatic findings. So this was published back in 2006 in Japan and this study was trying to answer the important question that was being asked then and now is that if you were to provide intensive care to these infants, how would it change outcomes? Would it? And what would that look like? So they included a cohort of 24 patients of trisomy 18 with diagnosis of trisomy 18, and intensive care was provided to all those 24 infants. Of these, 24 67% ended up getting a was were born by C section 63% were resuscitated with intubation and 42% ended up getting surgeries keeping in mind these were not cardiac surgeries And what they found in this in this small cohort was that survival at one week was 88%, 1 month was 83% and one year was 25%, which is much higher than what was known at that time and the most common underlying factors associated with death work in general heart defects and heart failure, followed by foundry hypertension. Five patients of this running forward discharged home and three needed home oxygen therapy. And the median hospital stay, among the five patients was 137 days. So off the five that survived to discharge, they had a pretty long hospital stay. I do not expect anybody to look into the details of this slide and I'm sorry that it looks so busy. And my point of showing the slide was just to give you a sense of what these 24 patients look like in terms of their comorbidities. As you can see the big picture wise, most of them did happen. General heart disease and most of them did have anomalies associated with the Gi system, their respiratory system seizures even, and renal system involvement. And the reason why I'm mentioning this is because one of the big limitations of this of this study was selection bias is they may have chosen 24 patients that they chose may have been the more robust infants who did not have a significant problems overall, they also did not comment on most cases. Um, so those were the confound Urz that obviously need to be kept in mind as we evaluate the results of that forward Moving on to cardiac defects and trisomy 13 and 18, which is the hottest topic in the discussion of these infants currently. Um and and whether to repair and what to repair and whatnot. 90% of patients with trisomy 18 and 80% of patients tries to make 13 are currently diagnosed with congenital heart disease and they primarily have septal defects. But other defects that can be found are waiting dr sicario sis tetralogy of fellow co optation of Biota and valvular defects. These infants have a higher risk of hypertension. Elevated pulmonary vascular resistance may be noted sooner and more often than other Children without these genetic diagnoses and the physiology of hypertension is likely multifactorial combination of upper airway, obstruction, aspiration, skeletal muscle hyper Tonia causing angular hyperventilation infection and increased flow and pressure due to cardiac shins. And there are many challenges to cardiac surgical repair that is unique to this patient population, some of which are low birth weight. These infants are generally growth restricted, increased pulmonary vascular resistance and reactivity in these infants, they generally tend to have a difficult airway, mostly upper and less likely to have take in Malaysia. They tend to overall have weaker immunity and they also tend to have a weak autonomic response to stress. Um The cortisol levels tend to be low. They almost always end up needing hydrocortisone on post op um They also tend to have an increased vehicle response so they can have prolonged british guardia's that are much longer to recover. And they also tend to have a reduced respiratory drive and increase risk of apnea. And all these things make it difficult to repair these. Um these Children successfully. So speaking of cardiac surgery, um, and like I mentioned since, this is most actively debated in this patient population. Let's talk about this study that was published in 2004, where they looked at data from the periodic cardiac care consortium And they found 35 infants who are undergoing cardiac surgery. The age of same surgery was ranged from 77-1 45 days. So the surgery was done when the kids were a little older And what they found was that that they had a 91% hospital survival rate, which is again higher than what was known at that time. But the other interesting thing about this study was that they stratified these infants on the basis of whether they were ventilated prior to surgery or not. So, infants that were that had prolonged ventilation prior to surgery so ventilated for greater than two days. Again, of course, these numbers are really small, but often nine that were ventilated for greater than two days eight survived, but of those 85 were ventilated at the time of discharge as well. However, infants that are ventilated for less than two days prior to surgery, most survived and were excavated at the time of discharge. So their conclusion was that infants that did not require long ventilation prior to surgery were more likely to be to not require the same after surgery and likely to be extricated and able to be discharged without needing a trick and prolonged ventilation. This is another study that was published relatively recently in 2017 and this was done by a neighboring hospital down in stanford and Tom Collins group did this study and they were also looking at congenital heart surgery and and the effect of it on in hospital mortality. And they looked at data over 10 years from the periodic health information system database and identified patients with trisomy 13 or 18 with congenital heart disease. And they had, they included more patients in their analysis about 1000 plus infants in driver trisomy 18, 600 plus infants with trisomy 13. And they found that heart surgery was performed in 7% of each group. And what they found was that in hospital mortality was decreased in those who underwent surgery, 64% lower in trisomy 18 and 45% lower in trisomy 13. And it remained decreased throughout the 24 months of follow up in hospital mortality was decreased in infants with higher weight, female sex and older age at admission. And so this was again, trying to ask the question and try to find an answer of one if, if cardiac surgery was even possible in these infants and if it were possible, what would outcomes look like. And so it seemed like at least um the theory that heart surgery was futile in these infants may not be completely true And that it may actually at least in a subset. Again, the caveat was this the surgery was only performed in 7% of these patients. So it could be that they just chose the more healthy infants. Um and that we did not have other comorbidities for their for for surgery, but that, but the the conclusion was that there could be a subset of patients who could end up getting surgery and could even be able to be discharged home of the surgery. And if the goal of the pay of those parents was to was for their Children to not die in the hospital, then that may be a consideration that could be considered. That could be assessed in the future. The same group then also did uh had this other, published this other article fairly recently in 2021, where they tried to build a model for prediction of survival to six months in these patients. And what they found was that there were certain variables that they predict survival after six months of age and cardiac surgery was one of those variables, as was gassed, Rostami placement, parental nutrition, and interestingly mechanical ventilation as well, which is contradictory to some of the other data that we have. Um and all this to say that mechanical ventilation itself probably needs to be evaluated with a little more nuanced in further studies. Um, this was another study that is also relatively recently published in 2020, um, since it seemed like there there could be a subset that could be that could be considered for cardiac surgery. What would that look like? How do you make that decision? And in trying to determine what those patients could look like? Um this was this was a study that tried to answer or try to assess that question. And what they found was that patients with minimal or no preoperative while we have attention and mechanical ventilation Undergoing corrective surgery at a weight greater than 25 2.5 kg suffer from lower postoperative mortality. Older age of surgery, complete surgical repair rather than police station. Also support and improved prognosis, infants with low complexity cardiac defects are likely to benefit the most from surgery. Although they're expected mortality is higher than that of infants without trials on me on fallacies can pose an increased mortality risk regardless of cardiac surgery, gastrointestinal commodities increase the risk of Castro's committee of placement while those with prolonged mechanical ventilation and respiratory commodities are more likely to require a trick. Um, this is another study that is also has gotten a lot of attention since it's it's published. Um, um, and this was a study that was looking at long term outcomes of Children with trisomy 13 and 18 after congenital heart disease. So, um, the data that I, that I spoke about before. This was rather short term outcomes. And this was looking at longer term and um, this was a retrospective review of the pediatric cardiac care consortium. Um, data identified between 1982 and 2008. Compared with patients that were offered intervention patients that were not offered intervention were more likely to be born in an earlier decade. Not surprisingly, have low birth weight, have increased incidents of comorbidities and have a single ventricle cardiac defect. Patients with trisomy 13 or 18 had higher mortality rates compared with the expected mortality rates in the general congenital heart disease population Following hypertension with left right shunt lesions may occur early in life in more than 50% of these patients. And it complicates the course of congenital heart disease before and after intervention. And these were the these were the captain may admire survival plots conditioned on survival up to discharge african, general Heart disease prepare so of these infants, those that were chosen to be candidates for surgery. Those that actually could did survive surgery and survive up until discharge. Those infants actually had a pretty impressive, impressively prolonged survival. And that's what this survival plot is showing is that infants which rise me 18 if they were to survive up until discharge after surgery, they could have a median survival of as long as 16 years. And trisomy 13 could have a million survival of up to 15 years, which is pretty impressive compared to what again, most of the data that they have. But of course the big caveat again is that this was a very small subset of patients. Um And that was the limitation of the argument against the study was that they may have just chosen the more the bigger infants, the infants with the less complex cardiac surgery and less commodities infants that were predetermined to succeed and not. And this may not necessarily be a reflection of um of the response to surgery itself. Um So that was one thing that was discussed heavily after the study. But I think again this study, this did show that there is that the subset of this sort could exist where surgery, if surgery is performed and if they do survive then they could have prolonged life lifespan. Um They also then stratified these infants on the basis of what kind of surgery, whether it was a truly corrective surgery versus a palliative surgery. And what they found was survival actually improved for infants that had full correction compared to infants that had undergone the palliative pathway. As you can see here. This was another study published by the CH. N. C. Which is the Children's hospital neonatal consortium. Um And this was a retrospective cohort of infants in the consortium. So, from 2010 to 2016 and the caveat to this study is this is only done at referral sentence in the nicu it is referral nick use across the country. So infants that had been that had gotten to a referral center, but probably infants whose parents wanted at least a trial of therapy of intensive care. And so they categorized all their patients into three groups based on the treatment they received. So whether it's they receive surgery or intensive medical care or non intensive care And they had 46, infants identified, of which 62% received intensive medical treatment and 27% received surgery. The most common surgery was a G tube And what they found was a survival to discharge in infants who received surgeries was 51% intensive medical treatment was 30%, a non intensive treatment was 72%. And they think that's because um Since the most common surgery that was performed was a G2, that's probably why those infants had higher survival to discharge. Um compared to the intensive medical treatment group, that was probably the group that had the more complex, which was a more complex phenotype with multiple comorbidities, that infants that were probably not candidates for surgery and the highest survival they think was in the non intensive treatment because these are probably the most um robust infants with with who were overall less sick and had lesser um Systems. Organ systems involved, all these were infants who parents wanted to take home with hospice and palliative care. So overall with, you know, with all the data that I have presented so far, what we we know we have at least have a sense of is that there are some factors that can confer a survival advantage for these infants which drives me 13 or 18. And some of those factors can be female gender, higher birth weight, or the absence of growth restriction, term gestation, absence of neonatal surgical anomalies, not requiring intubation or mechanical ventilation. And I put a question mark on that point because there seems to be some conflicting data as far as that particular aspect is concerned. But overall medical stability is also an important factor. So all my my point behind going through all that data was to highlight that there is definitely a change in medical landscape recognizing that again, the mortality is still fairly high, but it's it is evolving compared to what we had all been historically taught to say and taught to know about these conditions being lethal and survivable. Um, so yes, there is, there is evolving data, but also for us to recognize that parents don't just rely on advice given by medical providers. Um and the influence of social media and from one of those social media outlets is this statement that I have that I have, I wanted to highlight and show to everybody was a parent that said that we are told that this condition is lethal and then we find this online community with Children alive. How do you not question the advice you are receiving? And here I wanted to highlight and show everybody what the kind of support groups that are available online. And this is these are groups that are parents all have access to. And a lot of the parents I have gotten in touch with recently have access some of these support groups. And you know, as the name suggests support groups that these groups are incredibly supportive for parents who are trying to wrap their heads around such a difficult diagnosis with such a complex medical path ahead of them. Um, so there's definitely value to these groups. But the limitation is that um the loudest voices on these groups generally tend to be of families who have had Children with with positive outcomes and babies who are not that sick and did not have as many commodities. And so unfortunately these groups can also tend to present a fairly homogeneous picture of a disease that is incredibly heterogeneous and can have a ton of variability. So that is something that we need to we need to know and we need to try and communicate with the families about. But for that as providers, we have to know what is available out there and what parents are accessing. So that was the reason I wanted to show you guys this list and um of of all the resources that that is available out there. This is the resource that has quoted most often I've had a mother mentioned this website to me herself. This is the soft the organization called Soft which is a support organization, Fortress Army. And they have a very comprehensive website and this is a screenshot of the website where not only do they have a database of what kind of surgeries can be performed And cardiac and non cardiac and then what are the centers that perform these surgeries? They also have that list and they also have a ton of medical information on this website, including videos of lectures given by some specialists across the country who perform cardiac surgeries and complex cardiac surgeries and these kids. And I've had a parent who who once told me that she saw the lecture given by James Hamill who's a famous cardiac surgeon in this world, famous because he tends to he has he and his group. When they were when he was in Nebraska performed a lot of cardiac surgeries and they became sort of a center well known to perform cardiac surgeries and drives me 13 and 18. And so I had a mother who said that she had heard his lecture that is on this website on how cardiac surgeries could be performed in these kids. So again, just I wanted everyone and my intention is to for us to be aware of what parents are accessing beyond what is being told to them in the hospital. Um and another statement, another question that parents have asked us is how would you manage this problem? If not for the diagnosis of trisomy 13 or 18. When this question is asked in my opinion, the response shouldn't be to disregard the diagnosis, not to defend ourselves, but to acknowledge the underlying themes that are being raised. And some of those themes are the concern for the ethical principle of justice. To address the stigma associated with this diagnosis, to express awareness of the difference in management and maybe some degree of mistrust that has already crept into the relationship. Another statement that we we tend to be guilty of saying to families or giving parents is that this patient is not a surgical candidate and when we make that judgment or that statement, the surgeon is typically balancing facts and values and includes concepts that may be opaque to the non surgeon. It may be that the proposed operation is anatomically impossible. It may be that physiologically the operation will not make the person better. It may be that the surgeon herself does not feel confident that she can bring the patients safely through the operation. The surgeon may feel that the goal of the operation is inappropriate or unachievable because the factors that influence this decision are not necessarily clear to all involved parties. Such a decision can trigger concerns that the decision is motivated by judgments about the quality of life rather than the chance of surgical success. And so this according to me, is, is the hypothesis for the broken trust cycle that unfortunately tends to ensue in these cases. Parents internalize that their child is not being valued by the medical team. They lose trust and become difficult and demanding families that demand everything are generally families fighting to say that their child has value. And the concept of quality of life in itself is controversial. It is often used as a synonym for objective measures of physical or cognitive impairment. Results from subjective approaches, though consistently show that people's self assessments of their own quality of life do not correlate with objective measures of disability. And then there's the disability paradox. Individuals report a high quality of life despite impairments of chronic illnesses, nevertheless able bodied or cognitively intact, individuals tend to perceive the quality of life of the disabled as low and so for us to be mindful of that. This I thought was an interesting survey done on the quality of life and both parents and unit ologists were asked for their perspectives. And both physicians and families recognized the importance of quality of life in the decision making process for critically ill infants, but they differ in their assessment of what quality of life needs. Parents can accept high levels of disability and still regarded as high quality of life. Physicians though, interpret quality of life with regards to developmental outcomes, productivity contributions and society whereas parents view it more in the form of relation al Itty sibling connection, having meaning and giving meaning. Um this is also a study that is often discussed in the trisomy 13 and 18 community. Um it was a very important study done by Anne Javier's group up in Canada um where she she looked at the experience of families with Children with trisomy 13 and 18 in social networks. And this was important um from a twofold perspective one, because a lot used to be said about what it must be like to live with these Children, but we didn't really have objective data to quantify it. And so she tried to give us some data surrounding life with Children with trisomy 13 and 18. And the other thing interesting thing was that they looked at the they looked at this data but they looked at, they looked at social networks for this data which is also in some ways not territory that the medical community tends to go into. So it was interesting that um that's where the study was based. But the goal of the study was to hopefully get better understanding of the parental perspective to facilitate communication and decision making between providers and parents. Ah They had a total of 216 Children included, of which 44% had trisomy 13 and 56% had had trisomy 18 Parents of Children who received comfort care and died described the overall experience of their child's life as being positive, 88% of the times, 68% said they had no regrets and 31% regretted that they did not consider more interventions. Parents of Children who died despite interventions described the overall experience of their child's life as being positive, 89% of the times With 89% reflecting that they made the right decisions with no regret off note the survival of longer than a year in this, in this sample was higher than what is known in other studies. But um, you know, this was a study that the, the sample size of asian population was from was collected from social media outlets and so it really was not a standardized population. So that might be the reason. And also, again, like I said earlier, the social media is typically has is the majority of parents who are families that are on social media or those of those Children who had improved survival. So that also skews the data a little bit. So in this study, what they found was that parents reported being told that their child was incompatible with life, 87% of times that the child that they would live a life of suffering, 57% of times their child would be a vegetable, 50% of times or would ruin their marriage 26% of times or family 23% times. However, parents reported that some providers did tell them that their child may enrich their family, 16% might have a short but meaningful life or might survive for many years, 82% families with more than one child felt that this child had a positive effect on siblings of all the parents, 3% report that they managed resolved since dad since the diagnosis of trisomy 13 and 18 and 68% stated that this child has a positive effect on their relationship. 70 parents of 44% whose child lived longer than one year stated that they found the financial sacrifices related to their child to be very challenging and about half stated that their child experienced more pain than other Children. Half of the parents reported that taking care of a disabled child was harder than they expected, Despite most parents describing their child, their Children as having significant neurodevelopmental disabilities, 97% of parents described their child as a happy child And stated that they were able to communicate with them to understand their needs. Most parents reported that their family was strengthened since the birth and often the death of a child with trisomy 13 or 18. The same group also try to um try to analyze prenatal diagnosis of trisomy 13 and 18, the and the experience of parents who continue their pregnancy after that diagnosis. And I thought this was also quite interesting because this is again, a patient population that physicians can oftentimes be in conflict with. And so it was, it was interesting to hear the perspective of families who continue pregnancy after this diagnosis and so what were their hopes, ambitious and fears? So the themes that they found in terms of parental hopes were to be able to meet their child to be able to bring their child home and be a family and for their child to have a good life, their parents, their wishes and fears. The themes surrounding those were to be able to give their child a chance knowing that they did the best they could for their child and their fears surrounded typically were around pain, medical complexity and life in the hospital. Um, for respondents whose child died after a prenatal diagnosis when asked how they describe their overall experience of their child's life, 91% said positive. And for respondents whose children's child lived greater than three months, 91% agreed that their child was a happy child, 97% agreed that their child enriched their family life, and 82% felt that their child were opposed was a positive influence on their siblings. Um, in this article, they did an interesting thing of where they put two pictures right next to each other and one was this picture of Children with trisomy 13 and 18 in text books and articles and right next to it, they posted this picture and um it's very apparent how the color and the smiles and the relation Haliti aspect of these Children stands out in this picture compared to the previous one. Um, so overall our parents to be informed that most parents who choose to continue pregnancy have reported a positive and enriching experience regardless of the lifespan of their child. Most parents who choose to continue to pregnancy do so because it is the better path. According to their personal beliefs, they appreciate empathy and kindness on their extraordinarily difficult journey and especially recognition of and respect for their love for their child. This was a mixed method study of quality of life for Children who tries to be 13 and 18 after cardiac surgery. This was done by James Hamilton group in Nebraska And post. Published in 2020, parents rated their child's quality of life as 80 over 100 and their own quality of life is 78 over 100 which I thought was very interesting. Using validated skills on quality of life visual analog scale. All parents rated their child's quality of life as high, with the main response being 92.7 over 100 the rental hopes were informed by realistic perspectives on prognosis. While striving to ensure that Children had access to reaching their full potential qualitative analysis revealed a profound sense of the child's relational itty and valued life meaning. Speaking briefly about developmental outcomes in these Children, the majority of Children, which drives me 18 or 13 are non ambulatory, but some older Children are able to crawl, sit or ambulance with a walker. In most cases expressive language is not achieved. However, they might be able to smile and laugh, roll set up understand words and phrases use a few words of signs and follow simple commands. These infants generally tend to have significant delays, but many skills such as sleeping independently self feeding imitating following a simple command, smiling appropriately recognizing family and understanding cause and effect may be achieved. However, these Children will be dependent on their families for total care for the rest of their lives. Um, this I thought was an interesting competitive um, sort of helps you compare what kind of things we have historically told families when we have a prenatal diagnosis of trisomy 13 or 18 and what what might actually be helpful to tell them when we were to when we disclose this diagnosis, whether prenatally or after birth and on the left, you can see some of the things that we have said in the past and such as this diagnosis being lethal and incompatible with life and so forth. But I'm going to focus on the things that may be helpful to tell these families that Their child, this birth of a child which drives me 13 or 18 may enrich their family. Their child may have a short but meaningful life and might survive for many days, months or years to try and refer to the child by their name. Even if I'm born, offering to take pictures referring to other families of websites and to describe not only those organs that had malformations, but also those that did not have malformations. Um, some provider and parent myths and facts regarding trisomy 13 or 18. Um, I want to focus on a few. Most women terminate or most women want everything done as both not accurate. 50 to 85% of women terminate and less than 5% actually want everything done. The fact that these infants never make it to term is also not accurate. 30 to 60% die during the gestation and there's a high risk of prematurity, but some do make it to term These infants all die during the birthing process is also not accurate. All these infants die shortly after birth. As I mentioned before, 50-65% die within one week, 60-90% die within one month and 75-90% die within one year. They die no matter what we do. And response to interventions is similar to infants without trisomy 13 or 18. Both of those extremes are not accurate. Some interventions may prolong life for some of these infants, but numbers are small. Long term survival data are few and quality of life may or may not improve after surgery. A mortality length of stay and need for medical interventions is high, but there are some factors that improve chance of survival to discharge, such as female gender, higher birth weight and absence of major surgical anomalies, neurodevelopmental outcomes. They will be a vegetable is not a term we should use, but in fact to say that they will um have significant neurodevelopmental delay, but maybe we'll be able to achieve um a few milestones. So having said all that, what is the ethically right thing to do? Um as we are often told, good ethics begin with good facts, but facts can be modeled by self fulfilling prophecies. So some reflections for us care providers is the quality of life experienced by people with severe disabilities. So unacceptable that it is unethical to prolong such lives. Are we allocating expensive healthcare resources to patients who are thought likely to die? Is it disconcerting to be in the gray zone where some parents choose comfort care while some will want all available life sustaining technology. And then so now talking about the way forward. Um so should we treat these infants which drives me 13 and 18 like any other patient or should we do everything for these patients? I would argue not. Um I think the threshold to make for treatment to be obligatory ought to be high where the benefits should significantly outweigh the burdens of treatment. And I don't think we're quite there yet. But I also don't think where we are at the point where treatment should is ethically impermissible and that there is no benefit to treatment and the burdens are significantly higher than the than any benefit at all. Um, trisomy, trisomy 13 and 18. The new trisomy 21 is oftentimes also something we that is discussed in the literature. I would also argue not. I think the physiology, the viability, the variability in comorbidities and the neurologic potential is quite different in these babies. Compared to trisomy 21 Tries Me 13 and 18. Not a discussion many want to have uh briefly I just wanted to show this that that there is actually literature on ECMO in these infants and I'm in the interest of time. I'm going to move forward and not go into this article. So some of some next steps. Um There are many but some that may be helpful to have data are studies that include parental voices of all kinds hearing the voices of those who have chosen termination or comfort care is important. Studies on long term parental mental health, family dynamics and coping. Studies on health care, utilization and cost. Studies that look at the impact of interventions on long term survival and other developmental outcomes. And as data addressing differences in outcome with full intervention versus partial measures versus pure comfort care. Um And so as we get to the end, I want to be able to leave some time for questions and discussion. I wanna end with some guiding principles. Um To start off with listening and not assuming to practice the non binary approach to avoid never and always to watch our own biases. Data can reflect values for patients in the gray zone to provide balanced counseling and hone our skills of moral neutrality and tolerance to involve all caregivers, especially nurses and family meetings, to empower parents and offer reasonable hope to express humility in this gray zone. To encourage shared decision making, ask parents who would they like to decide with with their pastor, with the elders in their community. To encourage strong communication between specialists and approach these patients in a multidisciplinary fashion, thoughtful and evidence based selection of surgical candidates to individualize care based on comorbidities and parental values and goals and to engage with the broader community of pediatric specialists in the bay area and beyond. So we can avoid silos of trisomy friendly hospitals and instead all the hospitals that take care of Children with complex needs. And with that I come to the end and I'm ending with these pictures that that this sweet patient of ours who we have in the nicu this family has graciously allowed me to share with you all. This was an infant tries me 18 who's ended up getting surgical repair and is home with her family. And here's my email address. If anybody wants to reach out to me at any time point. And with that I would stop sharing my screen and would love to hear thoughts and questions and amazing thank you so much. At first I wanted to mention a comment that we have from Dr Petru who said this is an excellent presentation. Thank you so much. I hope that people who missed it will take advantage of the recording that will be available. Um Certainly this review should be reviewed whenever we have a hot case at our hospital and in our community again. Thank you. We do have a question about the study that was done in Japan. The interesting study there that you mentioned um that the surgeries were non cardiac. So what were these surgeries in general if you could clarify that? Yeah. So they were all primarily gastrointestinal surgeries. So G. Two placements Atresia repairs um Yeah primary G. I thank you. Um There's another question I think you touched on kind of the allocation of resources. So um the question is clearly as physicians we try to do everything in our power to treat our patients to the fullest. But given that we have a large percentage of Children who are under supported, how do you think or who do you think should be in charge of allocation of resources? Really tough question. Um Yeah I mean I think um yeah I think it would be so hard to answer that question. I don't know who has who has that authority. Um Just to say that I I think I at least the way I look at it is to um try and provide the best care to be patient that I'm that I'm responsible for and um I think the only thing that comes to mind as I mentioned in my presentation is that um when we think about scarce three scarce resources, I think this needs to be a bigger discussion. Um I think what I wanted to highlight was to be careful about not using that argument for a specific subset of patients that has that historically have have a stigma associated with them. And so if we're saying that we want to be careful about using scarce resources for infants who have long term significant long term impairment, then um that needs to be a bigger discussion because we do take care of several other patients who have similar outcomes, but don't always pause to think about resources in those patients. So um yeah, be mindful of that. Yeah. Thank you. Um you mentioned that most parents who wanted maximal medical therapy do feel good um and and fewer have regrets. Um is there more information about how parents who decide to go for care feel about their decision or as those regrets? I think you mentioned that there was a percentage that did feel like they wanted to do more. Yeah. And you're so right. And that's what I mentioned in the, you know, what needs to be discussed and we need more data surrounding it is because we don't that isn't as much about that subset of patients who have chosen to go with received comfort and what was their experience like I think there is more more more being published off later on with regards to parents who have chosen more intervention and and how how that was. That was good to them. But it's important to have all voices when we talk about this and um, and this and that's how I approach it. When I, you know, disclose this diagnosis, whether immediately or afterwards is really do um really to listen to parents deeply and understand what's important to them and support whatever, whatever parts they won't choose to take, how they will take care of their child. Thank you. Um the next question is, if survival of the few requires prolonged suffering and death of money, is it appropriate to provide full resuscitative care for all of these Children right after birth? Are there any centers that have specific protocols to determine the subset of patients who are appropriate for this path? Yeah, I mean, you know, I think that's why it's uh in my opinion, it's helpful to have this discussion previously and which is why I'm, you know, I think being a part of the field treatment center and having these discussions with these families in a multidisciplinary fashion beforehand is incredibly helpful because you're right. I mean, I think if there are several comorbidities that are known previously that we know will impair survival and make the patient ineligible for surgery regardless of how well, you know, how effective the resuscitation is. And even if we were to get the baby to survive to get to the neck. You if there is a limitation what we can provide afterwards and that changes how we approach resuscitation itself. Um, but of course this can only be happy. This can only happen if, you know, the diagnosis is not prenatally and we can have all our resources lined up to have the family. Um, you know, get in in time prenatally and have all these studies and conversations beforehand. And we have been successful a few times um, in doing that. Um, and you know, I think that is the one thing that is very evident in the data that we have is Is identifying infants who could be candidates for interventions and but not every baby that trisomy 13 and 18 is a candidate. So being able to stratify that. But also, I think a limitation when you, when we try to do this prenatally is that sometimes we don't know a lot prenatally and then we find out more afterwards. And that changes things too. So, you know, there are all these limitations that we that we're dealing with. We're trying to come to these families? It's very complex. And there is a question, I think that touches on, um, you know, differences in cultural background and experience with families. Are there, have you noticed any, you know, certain, um, certain groups of parents that either come from a specific religious or educational background or made maybe different experiences with individuals who have disabilities, um, or you know, advanced maternal age for example or reproductive assistance. Are there, are there groups like that, that you've noticed, um, differences amongst families who choose to go with full treatment or more of the palliative route. You know, there's no data surrounding that. I tried to look up if there was any racial ethnic sort of correlation that I could find and from my own experience, ask me in 10 years, I need more, I need more patients at by bucket to be able to give you speak to speak from my own perspective. So I'd like to hold off for now. Thanks. And this question kind of also touches on, you know, now that, um, a lot of states people, a lot of may not have access to abortion. Um, you know, will this kind of change things going forward and um, stay tuned. We do have a talk grand rounds on abortion access coming up in early 2023. Um, I think that's all we have time for. It's nine o'clock. I'm sorry. There are several other yes. I'm seeing a few questions that I'd love to answer. I wonder if I can type somewhere or maybe if people can email me and I'd love to yes. Why don't you put up that last slide again? Maybe with your email? Yeah. We can, we can leave that there and then, um, for the questions that weren't answered. We have a recording. So you can watch the end of this video and see and see her doctor Manganese email address and reach out. Yes. Thank you again so much. Thank you. Thanks everybody. Have a good day, everyone. Thank you. Created by
