Interdisciplinary care of children with trisomy 13 and 18

Weaver, Meaghann S.; Anderson, Venus; Beck, Jess; Delaney, Jeffrey W.; Ellis, Cynthia R.; Fletcher, Scott E.; Hammel, James M.; Haney, Suzanne B.; Macfadyen, Andrew; Norton, Bridget M.; Rickard, Mary; Robinson, Jeffrey A.; Sewell, Ryan K.; Starr, Lois J.; Birge, Nicole

doi:10.1002/ajmg.a.62051

Cited by 24 publications

(26 citation statements)

References 102 publications

(123 reference statements)

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“…The management of those complications is becoming more clinically relevant due to increases in the availability and breadth of treatment offered to families. The complex care needed to optimize outcomes for patients with trisomy 18 requires multidisciplinary care that should attend to both the medical and psychosocial needs of the patient and family (Weaver et al, 2020). In addition to the medical screening described within this review (Table 1), attention should also be paid to supporting the wellness of families, including referral to support groups such as the Support Organization for Trisomy 18, 13 and Related Disorders.…”

Section: Discussionmentioning

confidence: 99%

Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life‐threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

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Section: Discussionmentioning

confidence: 99%

Surveillance guidelines for children with trisomy 18

Kepple

Fishler

Peeples

2021

American J of Med Genetics Pt A

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“…Family expectations, beliefs and cultural background are a focal piece of advanced care plans and end-of-life care. (7,(29)(30)(31) As the paradigm shift on management and treatment options for trisomy 18 continues, all new reports, studies and revisions of current literature contribute to the foundation of the development of future guidelines that may assist in providing personalized care to these children and their families, throughout disease progression and including bereavement support.…”

Section: Discussionmentioning

confidence: 99%

Trisomy 18 – When the Diagnosis Is Compatible With Life

Silva

Ferreira

Saraiva

et al. 2021

Preprint

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Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as the therapeutic options have become more relevant, the medical community witnessed a paradigm shift on the offer of treatment to these children.This is a retrospective, cohort study that strives to characterize the clinical path and survival of the children with the diagnosis of trisomy 18, accompanied in a tertiary pediatric hospital between 1995 and 2020.Six children were identified with trisomy 18, two of them mosaic (33,3%) and four were females (66,7%). All had cardiovascular, cognitive and physical development anomalies or minor congenital anomalies (n=6, 100%) and most presented musculoskeletal anomalies (n=5, 83,3%) and feeding difficulties (n=4, 66,7%). Four children (66,7%) were reliant on devices or equipment and all needed chronic medication (n=6, 100%). Two children (33,3%) were submitted to surgical interventions. Four children (66,7%) were hospitalized in the last year of life. A decision of limitation of therapeutic effort was present in three cases (50%) with one child being referenced to pediatric palliative care (16,7%). One-month, one-year and ten-year survival were 66,7% (n=4), 33,3% (n=2, both mosaic), and 16,7% (n=1, mosaic) respectively.Conclusions: Knowledge on the clinical picture is of great importance regarding the neonatal care and the decisions about invasive treatments, which can involve ethical issues, highlighting, concurrently, the need for attempted referral of these children to pediatric palliative care teams.

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“…Phrases such as do everything and do nothing should be avoided. 35,36 Supportive clinicians also provided appropriate hope, such as the hope that parents would spend time with their child—even unborn, that they would meet them at birth, and would be able to care for them for the longest time possible.…”

Section: Avoiding Harm—the Pendulum Analogymentioning

confidence: 99%

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

Cleary

Janvier

Farlow

et al. 2021

World J Pediatr Congenit Heart Surg

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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.

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Interdisciplinary care of children with trisomy 13 and 18

Cited by 24 publications

References 102 publications

Surveillance guidelines for children with trisomy 18

Surveillance guidelines for children with trisomy 18

Trisomy 18 – When the Diagnosis Is Compatible With Life

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

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