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Trisomy 18—when the diagnosis is compatible with life

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Abstract

Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as novel therapeutic options emerged, a paradigm shift on the treatments available to these children occurred, establishing the need to deepen the knowledge regarding the management/treatment of children diagnosed with trisomy 18. This retrospective cohort study sought to characterize the clinical path and survival of the children with the diagnosis of trisomy 18 followed in a tertiary pediatric hospital between 1995 and 2020. Medical records were reviewed, and epidemiological and clinical features and follow-up data were collected. Six patients were identified, two with mosaicism (33.3%) and four were female (66.7%). All had cardiovascular, cognitive, and physical development anomalies or minor congenital anomalies. Most presented neurological anomalies (n = 4, 66.7%) and feeding difficulties (n = 4, 66.7%). Four children (66.7%) required medical devices or equipment and all required chronic medication. Two children (33.3%) underwent surgical interventions. Four children (66.7%) were hospitalized in the last year of life. Three patients had a do not resuscitate order (50%) but only one child was referred to a pediatric palliative care team (16.7%). One-month, 1-year, and 10-year survival were 66.7% (n = 4), 33.3% (n = 2, both with mosaicism), and 16.7% (n = 1, with mosaicism) respectively.

Conclusions: Knowledge of the multiple comorbidities and complex care needs of children with this syndrome is crucial. Every-day care and decisions about invasive treatments may raise ethical issues. Early referral to pediatric palliative care teams is essential to promote a holistic advanced care plan for both the patient and his family.

What is Known:

• The increase in survival and the high morbimortality that trisomy 18 still entails demands a careful deliberation on the use of invasive treatment.

What is New:

• Recent studies show that the labels of “incompatible with life”/“lethal” are not adequate, establishing a need to change this mindset.

• The development of pediatric palliative care teams in the last decade and early referral allow for an optimal individualized advanced care plan. Under-referral to pediatric palliative care teams persists and efforts must be made to increase awareness of their existence and role in patient care.

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Authors and Affiliations

  1. University Clinic of Pediatrics, Faculty of Medicine of the University of Coimbra, Coimbra, Portugal

    Catarina Silva, Jorge Saraiva & Cândida Cancelinha

  2. Medical Pediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

    Mariana Cortez Ferreira

  3. Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

    Jorge Saraiva

  4. Clinical Academic Center of Coimbra, Coimbra, Portugal

    Jorge Saraiva

  5. Pediatric Palliative Care Team, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

    Cândida Cancelinha

Authors
  1. Catarina Silva
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  2. Mariana Cortez Ferreira
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  3. Jorge Saraiva
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  4. Cândida Cancelinha
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Contributions

All authors were responsible for the conception of this study. CS and MCF contributed towards the acquisition of data. CS wrote the manuscript. JS and CC had a major contributor in reviewing it critically for important intellectual content. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Catarina Silva.

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Approval was obtained from the ethics committee of Centro Hospitalar e Universitário de Coimbra (process number 128–20).

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The authors declare no competing interests.

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Communicated by Peter de Winter

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Appendix

Appendix

Table 2 Detailed patient description
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Table 3 Diagnoses and number of children identified with the respective diagnosis
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Silva, C., Ferreira, M.C., Saraiva, J. et al. Trisomy 18—when the diagnosis is compatible with life. Eur J Pediatr 181, 2809–2819 (2022). https://doi.org/10.1007/s00431-022-04477-w

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  • DOI: https://doi.org/10.1007/s00431-022-04477-w

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