“The long-held belief that T13/T18 and CHD is universally fatal in infancy cannot be supported by our data and seems outdated and incorrect…Our non-operated cohort had a 30-day mortality of 25% and 5-year mortality of 65.4%.” Operative and nonoperative outcomes in patients with trisomy 13 and 18 with congenital heart disease (jtcvsopen.org)(2024)

 New study from Japan analyzed data from 1,164 patients with T13 between 1995 & 2021: “Median survival time among patients with trisomy 13 has increased over the last 26 years, with almost 1 in 3 patients currently surviving for more than 1  year. The increased surgical intervention rate might have contributed to this improvement.” Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan - Kato - 2024 - American Journal of Medical Genetics Part A - Wiley Online Library (2024)

 Recent study in South Korea utilizing data from 193 patients with T18 found a 1-year survival rate of 63.2%. Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea | BMC Pediatrics (springer.com)(2023)

 “This multi-registry European study found that despite extremely high neonatal mortality in children with T13 and T18, 32% and 21%, respectively, of those who survived to 4 weeks were likely to survive to age 10 years. These reliable survival estimates are useful to inform counselling of parents after prenatal diagnosis.” Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study | Archives of Disease in Childhood (bmj.com)(2023)

 “Those who make it to a month of life then have a 60% (T13) and 71% (T18) probability of survival to one year.” Rethinking the Paradigm: The Evolving Care of Children with Trisomy 13 and 18 (newbornjournal.org) (2022)

 A retrospective analysis with trisomy 18 patients demonstrated a significant increase in survival rates over time: “The patients were divided into early period (EP) and late period (LP) groups based on the birth year of 2008–2012 and 2013–2017, respectively…One-year survival rates were 34.5% and 59.3% in the EP and LP groups, respectively. The survival to discharge rate significantly increased from 27.6% in the EP group to 81.5% in the LP group (p < 0.001).” Improving survival in patients with trisomy 18 - Tamaki - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library(2021)

 In a large multi-state study with 693 trisomy 13 children and 1,113 trisomy 18 children, 5-year survival was 9.7% and 12.3% in T13 and T18 children, respectively. Survival rates were even higher for those who survived the first 28 days of life:

For T13: One-year survival was 12%; survival from 28 days to 1 year was 45%; survival from 28 days to 5 years was 38%.

For T18: One-year survival was 13%; survival from 28 days to 1 year was 36%; survival from 28 days to 5 years was 33%.

The study also found that T13 & T18 children who survived the first year of life had more than an 80% chance of surviving for 5 years.Survival of Children with Trisomy 13 and Trisomy 18: A Multi-State Population-Based Study - PMC (nih.gov)(2015)

 “One-year survival for trisomy 13 was 19.8% (95% CI, 14.2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18. Ten-year survival for trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18…Among children born with trisomy 13 or 18 in Ontario, early mortality was the most common outcome, but 10% to 13% survived for 10 years. Among children who underwent surgical interventions, 1-year survival was high.” Survival and Surgical Interventions for Children With Trisomy 13 and 18 | Genetics and Genomics | JAMA | JAMA Network(2016)

  A final point: “Interpretation of mortality data is complicated by the fact that, at many centers, no attempt is made to prolong the life of these infants...The phenomenon of self-fulfilling prophecy is a risk for disorders with high mortality; if one assumes that patients with a certain disorder cannot survive, and thus elects not to offer potentially life-prolonging interventions, then the low, or zero, survival rate is perpetuated. This, in turn, reinforces the belief that these patients cannot be saved, and attempts to do so are therefore not medically or ethically appropriate. Nevertheless, reports have shown that some patients with trisomy 13 or 18 can and do survive the newborn period, and those who survive the first year tend to have improved rates of long-term survival, with around 10–15% total survival at 5 and 10 years of age.” Management options and parental voice in the treatment of trisomy 13 and 18 - PubMed (nih.gov)(2018)

 While these studies show a wide variety of survival statistics, the common theme remains: survival is higher than previously thought, and T13/T18 are far from “fatal.”

*All emphasis added is mine

 “Simply put, assumptions T13/T18 babies experience a uniformly low quality of life are likely wrong. In fact, despite significant delays, children who survive past 1 year of age show continued achievement of developmental milestones across their lifespan…Studies show that children with T13/18 can communicate in a variety of ways including smiling, laughing, reaching, and vocalizing, and the majority (66%) of parents of children with T13/18 reported their child produced at least one word, gesture, or augmentative and alternative communication form. Further, families describe their child’s life as ‘significant,’ ‘valuable,’ and ‘transformative to the lives of those around them,’ no matter how short or how disabled.” Rethinking the Paradigm: The Evolving Care of Children with Trisomy 13 and 18 (newbornjournal.org) (2022)

 “Parents rated their child's quality of life as 80/100, and their own quality of life as 78/100 using validated scales…On quality of life visual analogue scale, all parents rated their child's quality of life as ‘high’ with mean response 92.7/100.” Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery - PubMed (nih.gov) (2020)

 Recent study of 11 individuals with full T13 over 18 years of age: “Communication varied with most individuals expressing themselves through emotions, pointing, or another use of spatial relationship to convey a need or desire. Five individuals could identify their parent with a name. Some individuals used limited signs, a communication device or situational phrases. Most individuals could partially assist with activities of daily living, either by walking, using a wheelchair, feeding him- or herself, or partially assisting with dressing, bathing, or toilet.” Parent‐reported histories of adults with trisomy 13 syndrome (2020)

 "Through these surveys of parents of children with trisomy 13/18, it has been shown that these children are often perceived as being happy and having a good quality of life, as well as being able to interact with their family." Management options and parental voice in the treatment of trisomy 13 and 18 - PubMed (nih.gov) (2018)

 “Parents appeared to be positive about caring for their children, and the children seemed to interact with parents and siblings as long as they lived, resulting in quality family time. The family point of view, as well as knowledge of natural history, should be considered when policy statements about the care of children with trisomy 18 are made.” Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group - PubMed (nih.gov) (2013)

 Analysis of children T13 & T18 children over 1 year old showed: 100% of children smile, 95% laugh, 90-100% roll over, 86-100% play with toys; many can stand, walk assisted, and eat by mouth. “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.” 82% also felt their T13/T18 child had a positive effect on siblings. The Experience of Families With Children With Trisomy 13 and 18 in Social Networks | Pediatrics | American Academy of Pediatrics (aap.org) (2012)

*All emphasis added is mine

 “Median survival times were longer in surgical rather than nonsurgical patients (p<0.001)…Those who survived to undergo surgery survived longer overall.“ Surgical History and Outcomes in Trisomy 13 and 18: A Thirty-year Review - Journal of Pediatric Surgery (jpedsurg.org) (2023)

 A retrospective analysis of trisomy 18 patients demonstrated an increase in both surgical interventions and survival over the course of a decade: “The patients were divided into early period (EP) and late period (LP) groups based on the birth year of 2008–2012 and 2013–2017, respectively…One-year survival rates were 34.5% and 59.3% in the EP and LP groups, respectively. The survival to discharge rate significantly increased from 27.6% in the EP group to 81.5% in the LP group (p < 0.001). The proportion of patients receiving surgery, especially for congenital heart defects, significantly increased from 59% in the EP group to 96% in the LP group (p = 0.001). In our single-center study, survival and survival to discharge were significantly improved in patients with trisomy 18, probably because of increased rate of surgical interventions.” Improving survival in patients with trisomy 18 - Tamaki - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library (2021)

 “If a family’s goals of care are focused on maximizing time with their child alive, it seems reasonable that medical interventions made available should reflect that desire, especially when managing potentially transient processes...parents of these patients should be given more options than has traditionally been the case in many medical centers.” Management options and parental voice in the treatment of trisomy 13 and 18 | Journal of Perinatology (nature.com) (2018)

 “Estimated 1-year survival for those with a major procedure was 30% and 22% for trisomies 13 and 18, respectively. In conclusion, there was an increasing rate of procedures per patient of all intensity levels over the 25-year study period.” Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐center review - Josephsen - 2016 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library (2016)

 “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% [living <24 hrs] and 87% [discharged home], respectively for children with a postnatal diagnosis (P < 0.01)…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.” Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18 - Janvier - 2016 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library (2016)

 “The body of work indicates that intervention does make a difference in terms of survival in infants with trisomy 13 or trisomy 18 and could be a reasonable option in discussion of care in a prenatal or postnatal session with parents.” Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13? - Kosho - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library (2016)

 “Healthcare management approaches or policies that reject out of hand the goal of prolonging the life of any infant/child with trisomy 18 are not defensible. Management plans should be goal-directed, based on the physician-parent evaluation of the benefits and burdens of care options for the individual child.” Evolving medical and surgical management of infants with trisomy 18 - PubMed (nih.gov) (2014)

*All emphasis added is mine

 “Cardiac repair can be performed safely with low early mortality and operated patients had higher long-term survival compared with nonoperated in our cohort.” “Thirty-day postoperative survival was 94%...One-year survival was 79% operated versus 51.5% nonoperated (P<.003).” Operative and nonoperative outcomes in patients with trisomy 13 and 18 with congenital heart disease (jtcvsopen.org) (2024)

 AATS recommendations as of 2023 for infants with T13 or T18:

-If CHD is mildly-moderately complex, “cardiac surgery is reasonable if the hemodynamic consequence of the CHD prohibits discharge.”

-“Timely elective cardiac surgical repair is reasonable to decrease late cardiac morbidity mortality and to improve quality of life” if CHD is mildly-moderately complex and patient is home or needs recurrent hospital admissions

-“While associated extracardiac defects such as esophageal atresia and abdominal wall defects are associated with higher morbidity and mortality in infants with T13/T18, repair of CHD of mild-to-moderate complexity may be considered once these other defects are adequately addressed.”

-“Surgical repair of CHD of mild-to-moderate complexity is associated with better outcomes than palliation; however, initial palliation (eg, pulmonary artery banding) is recommended in those with significant associated morbidity.”

-“Early cardiac surgery is reasonable for mild-to-moderate complex congenital heart defects” to avoid early PHTN development.

-“Multidisciplinary teams including palliative care, are recommended as a component of an overall comprehensive care plan to enhance decision making for families considering cardiac surgery.”

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect - ScienceDirect (2023)

 Recent study in South Korea involving 193 patients with T18: “Children with heart disease who underwent surgical or catheter intervention had a longer survival time than those who did not.” Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea | BMC Pediatrics (springer.com) (2023)

 “Cardiac operation with an emphasis on complete repair can be performed safely in carefully selected children with trisomy 13 or trisomy 18.” In this study, five-year survival was 66.6%, compared with only 24% in unoperated trisomy 13/18 patients. Cardiac surgery in children with trisomy 13 or trisomy 18: How safe is it? - JTCVS Open (2022)

 Study surveying 125 hospitals and 304 patients with trisomy 13/18 found that while cardiac procedures are high risk, 85% survived to hospital discharge. “The operative mortality rate was 15%, with a 56% complication rate…Ventricular septal defect repair is the most common repair in patients with T13 and T18, but the spectrum of surgical procedures covers all aspects of congenital cardiac surgery and all levels of complexity, with the majority of patients surviving to discharge, even in highly complex cardiac operations…Preoperative mechanical ventilation was associated with risk of postoperative mortality and may be considered a relative contraindication to surgery.” Cardiac Surgery in Patients With Trisomy 13 and 18: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database - PMC (nih.gov) (2019)

 After cardiac surgery, parents rated their child’s quality of life as “high” on quality of life visual analogue scale (mean response 92/100) and as 80/100 using validated scales. Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery - PubMed (nih.gov) (2020)

 A study compiling data from 44 children’s hospitals which analyzed outcomes for nearly 1,600 trisomy 13 & 18 patients found that cardiac intervention more than doubled survival rates: “Heart surgery increased survival and hospital discharge on average from 33 percent to approximately 67 percent for these patients, and that this benefit lasted through two years of follow-up.” Newborns with trisomy 13 or 18 can benefit from heart surgery | News Center | Stanford Medicine (2018)

 While T13 and T18 patients have higher mortality and resource use, "interventions for CHD may be an acceptable and ethical option following a careful individualized selection and counseling by a team of experts”. Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease | Pediatric Cardiology (springer.com) (2018)

 Trisomy 13 & 18 patients who received corrective cardiac surgery rather than palliative treatment had a much higher median survival rate. “Patients on a corrective treatment pathway demonstrated median survival of 32.2 years (95% CI 11.1–53.4 years), while patients on a palliative treatment pathway demonstrated shorter median survival of 10.1 years (95% CI 1.2–19 years) (p =0.008).” Long Term Outcomes of Children with Trisomy 13 and 18 After Congenital Heart Disease Interventions - PMC (nih.gov) (2017)

 “In-hospital mortality was decreased in those who underwent [congenital heart surgery] (64% lower in T18 [P <.001]; 45% lower in T13 [P = .003]) and remained decreased throughout the 24 months of follow-up…CHS is associated with decreased in-hospital mortality in T18 and T13. These results suggest CHS may be beneficial in select cases.” Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18 | Pediatrics | American Academy of Pediatrics (aap.org) (2017)

*All emphasis added is mine

 While central apnea is often an assumed cause of breathing issues, many medical professionals suggest it may not be central apnea but rather obstructive or epileptic apnea, which are very common in T13/T18 children and are often treatable.

 90% of trisomy 13 and 18 patients had multiple airway pathology findings. “In patients with trisomy 13, all patients who underwent flexible bronchoscopy were noted to have tracheomalacia…Laryngomalacia, hypopharyngeal collapse, and glossoptosis were present in most patients with trisomy 13…Comprehensive airway evaluation should be considered in patients with trisomy 18 and trisomy 13 who have significant respiratory symptoms, including unexplained respiratory distress, respiratory failure, dependence on or difficulty weaning respiratory support, those with concern for aspiration or sleep-disordered breathing, or those with unexplained symptoms such as chronic cough/congestion, noisy breathing, pauses in breathing or intermittent desaturations.” Airway findings in trisomy 13 and trisomy 18: A 10‐year retrospective review - Dress - 2024 - Pediatric Pulmonology - Wiley Online Library (2023)

 “The results of our study suggest that T13 and T18 patients are at increased risk for OSA due to common features found in this population. These findings indicate a need for otolaryngologist intervention to increase both survival and quality of life in this population…In our study, we found that 52.63% of T13 patients and 44.68% of T18 patients had evidence of [sleep disordered breathing]…Based on our findings, we suspect that overall, OSA in T18 and T13 patients is underdiagnosed. Clinicians treating these patients should have a low threshold for screening this population.” Sleep disordered breathing in children with trisomy 13 and trisomy 18 - ScienceDirect (2020)

 Findings reported in adults with full T13: “7 of 10 individuals had symptoms of apnea in the neonatal period that improved with time. Reflecting on the methods of this study, it is important to highlight that apneic symptoms described by parents could represent other etiologies aside from central apnea, such as obstructive apnea, cyanosis, or seizures.” Parent‐reported histories of adults with trisomy 13 syndrome (2020)

 “Respiratory support is effective against apnea in infants with trisomy 18. Intervention with ventilation provides a higher chance of prolonged survival…By the end of this study, four of six infants with apnea without [positive pressure ventilation] died because of apnea. In contrast, none of the PPV-supported infants (n=8) died of apnea during the observation period

Our study showed that four of five patients with epilepsy started presenting with apnea from early infancy…We also found that these five patients were supported by PPV, whereas no infant without PPV reached the diagnosis of epilepsy. Thus, the prevalence rate of epilepsy in trisomy 18 might be underestimated...In conclusion, we propose PPV as a reasonable option in the postnatal management of infants with trisomy 18. Respiratory support might then lead to an accurate diagnosis of epilepsy and to effective therapies for controlling apnea.” Management of apnea in infants with trisomy 18 - Taira - 2020 - Developmental Medicine & Child Neurology - Wiley Online Library (2019)

 “Among neonates with trisomy 18 who lived longer than 3 days, three of seven patients had EEG-confirmed seizures. AEDs were useful for treating their epileptic apneas and stabilizing their SpO2. Physicians should keep epileptic apneas in mind when treating apneas in neonates with trisomy 18.” Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas - Fukasawa - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library (2015)

*All emphasis added is mine