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Ethical issues about the paradigm shift in the treatment of children with trisomy 18

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Abstract

Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest medical decisions in newborns with trisomy 18 was done. Two main subjects were examined: (1) the chances of survival and (2) the perception of quality of life. Trisomy 18 is no longer considered a disease incompatible with life, and the discussion has shifted towards the type of treatment that is appropriate to initiate at birth. There are two medical attitudes towards these children: either palliative care or life-prolonging interventions. With medical intervention, the survival is as high as 23% at 5 years of age. Regarding the quality of life, all decision-makers emphasize the possibility of taking the child home. The physicians’ perception is more pessimistic than that of the parents. Only a few children benefit from medical interventions.

Conclusion: There is a rethinking of treatment behavior in children with trisomy 18. The possible quality of life achieved should be further investigated. It seems inappropriate to simply dismiss medical interventions.

What is Known

• Until recently, trisomy 18 was considered a disease incompatible with life. The most common behavior was abortion and denial of treatment.

What is New

• It is no longer considered a lethal disease. The type of medical intervention that is appropriate to perform is now being discussed. Selected children benefit from an interventionist approach.

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References

  1. Bellieni CV, Buonocore G (2009) Flaws in the assessment of the best interests of the newborn. Acta Paediatr 98(4):613–617

    Article  Google Scholar 

  2. Carey JC (2009) Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics 123(3):e547–e548

    Article  Google Scholar 

  3. Crawford D, Dearmun A (2016) Edwards’ syndrome. Nurs Child Young People 28(10):17

    Article  Google Scholar 

  4. Derrington SF, Dworetz AR (2011) Confronting ambiguity: identifying options for infants with trisomy 18. J Clin Ethics 22(4):338–344

    PubMed  Google Scholar 

  5. Hasegawa SL, Fry JT (2017) Moving toward a shared process: the impact of parent experiences on perinatal palliative care. Semin Perinatol 41(2):95–100

    Article  Google Scholar 

  6. Hurley EH, Krishnan S, Parton LA, Dozor AJ (2014) Differences in perspective on prognosis and treatment of children with trisomy 18. Am J Med Genet A 164A(10):2551–2556

    Article  Google Scholar 

  7. Jacobs AP, Subramaniam A, Tang Y, Philips JB 3rd, Biggio JR, Edwards RK, Robin NH (2016) Trisomy 18: a survey of opinions, attitudes, and practices of neonatologists. Am J Med Genet A 170(10):2638–2643

    Article  Google Scholar 

  8. Janvier A, Farlow B, Barrington K (2016) Cardiac surgery for children with trisomies 13 and 18: where are we now? Semin Perinatol 40(4):254–260

    Article  Google Scholar 

  9. Janvier A, Farlow B, Barrington KJ (2016) Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet C: Semin Med Genet 172(3):279–287

    Article  Google Scholar 

  10. Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y, Nakajima Y, Endo D, Tsuchiya K, Sato H, Kawakami T (2008) Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet A 146A(11):1372–1380

    Article  Google Scholar 

  11. Kavarana MN (2016) Cardiac surgical repair should be offered to infants with trisomy 18, interrupted aortic arch and ventricular septal defect. J Law Med Ethics 44(2):283–285

    Article  Google Scholar 

  12. Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K (2010) Radical surgery for a ventricular septal defect associated with trisomy 18. Gen Thorac Cardiovasc Surg 58(5):223–227

    Article  Google Scholar 

  13. Marc-Aurele KL, Nelesen R (2013) A five-year review of referrals for perinatal palliative care. J Palliat Med 16(10):1232–1236

    Article  Google Scholar 

  14. Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH (2018) A fetal diagnostic center’s referral rate for perinatal palliative care. Ann Palliat Med 7(2):177–185

    Article  Google Scholar 

  15. Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA, National Birth Defects Prevention Network (2016) Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A 170A(4):825–837

    Article  Google Scholar 

  16. Milstein JM (2003) Detoxifying death in the neonate: in search of meaningfulness at the end of life. J Perinatol 23(4):333–336

    Article  Google Scholar 

  17. Mullin J, Wolfe J, Bluebond-Langner M, Craig F (2019) Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents. Am J Med Genet A 179(6):903–907

    Article  Google Scholar 

  18. Nagase H, Ishikawa H, Toyoshima K, Itani Y, Furuya N, Kurosawa K, Hirahara F, Yamanaka M (2016) Fetal outcome of trisomy 18 diagnosed after 22 weeks of gestation: experience of 123 cases at a single perinatal center. Congenit Anom (Kyoto) 56(1):35–40

    Article  Google Scholar 

  19. Nelson KE, Hexem KR, Feudtner C (2012) Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics 129(5):869–876

    Article  Google Scholar 

  20. Nguyen JE, Salemi JL, Tanner JP, Kirby RS, Sutsko RP, Ashmeade TL, Salihu HM, Drach LL (2018) Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. J Perinatol 38(12):1674–1684

    Article  Google Scholar 

  21. Nishi E, Takamizawa S, Iio K, Yamada Y, Yoshizawa K, Hatata T, Hiroma T, Mizuno S, Kawame H, Fukushima Y, Nakamura T, Kosho T (2014) Surgical intervention for esophageal atresia in patients with trisomy 18. Am J Med Genet A 164A(2):324–330

    Article  Google Scholar 

  22. Pallotto I, Lantos JD (2017) Treatment decisions for babies with trisomy 13 and 18. HEC Forum 29(3):213–222

    Article  Google Scholar 

  23. Paris JJ, Weiss AH, Soifer S (1992) Ethical issues in the use of life-prolonging interventions for an infant with trisomy 18. J Perinatol 12(4):366–368

    CAS  PubMed  Google Scholar 

  24. Patterson J, Taylor G, Smith M, Dotters-Katz S, Davis AM, Price W (2017) Transitions in care for infants with trisomy 13 or 18. Am J Perinatol 34(9):887–894

    Article  Google Scholar 

  25. Peterson R, Calamur N, Fiore A, Huddleston C, Spence K (2018) Factors influencing outcomes after cardiac intervention in infants with trisomy 13 and 18. Pediatr Cardiol 39(1):140–147

    Article  Google Scholar 

  26. Silberberg AA, Gallo JE (2017) Ethical dilemmas associated with clinicians’ decisions about treatment in critically ill infants born in Córdoba, Argentina. J Child Health Care 21(1):121–126

    Article  Google Scholar 

  27. Spierson H, Masood Y, Craigie RJ, Edi-Osagie N (2018) Trisomy 18: palliative surgical intervention. Arch Dis Child 103(10):1001

    Article  Google Scholar 

  28. Thorvilson MJ, Copeland AJ (2017) Incompatible with care: examining trisomy 18 medical discourse and families’ counter-discourse for recuperative ethos. J Med Humanit 39(3):349–360

    Article  Google Scholar 

  29. Weaver MS, Starr LJ, Austin PN, Stevenson CL, Hammel JM (2018) Eliciting narratives to inform care for infants with trisomy 18. Pediatrics 142(4):e20180321

    Article  Google Scholar 

  30. Wilkinson DJ (2010) Antenatal diagnosis of trisomy 18, harm and parental choice. J Med Ethics 36(11):644–645

    Article  Google Scholar 

  31. Wilkinson D, de Crespigny L, Xafis V (2014) Ethical language and decision-making for prenatally diagnosed lethal malformations. Semin Fetal Neonatal Med 19(5):306–311

    Article  Google Scholar 

  32. Winn P, Acharya K, Peterson E, Leuthner S (2018) Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol 38(7):788–796

    Article  Google Scholar 

  33. Yamagishi H (2010) Cardiovascular surgery for congenital heart disease associated with trisomy 18. Gen Thorac Cardiovasc Surg 58(5):217–219

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Bioethics, Hospital Universitario Austral, Universidad Austral, Av. Juan Perón 1500 (ex Ruta 234), B1629AHJ, Pilar, Buenos Aires, Argentina

    Agustín Silberberg

  2. Chair of Pathophysiology, Facultad de Ciencias Biomédicas, Universidad Austral, Buenos Aires, Argentina

    Josefina Robetto

  3. Department of Bioethics, Facultad de Ciencias Biomédicas, Universidad Austral, Buenos Aires, Argentina

    Guadalupe Grimaux

  4. Medical Student, Facultad de Ciencias Biomédicas, Universidad Austral, Buenos Aires, Argentina

    Laura Nucifora

  5. Department of Pediatrics, Clínica Universidad de Navarra, Madrid, Spain

    José Manuel Moreno Villares

Authors
  1. Agustín Silberberg
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  2. Josefina Robetto
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  3. Guadalupe Grimaux
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  4. Laura Nucifora
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  5. José Manuel Moreno Villares
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Contributions

Dr. Silberberg initiated the study, made the literature review and drafted the manuscript.

Dr. Robetto participated in the review of the literature and in drafting the manuscript.

Dr. Grimaux participated in the review of the literature and in drafting the manuscript.

Miss Nucifora participated in the review of the literature and in drafting the manuscript.

Dr. Moreno Villares critically reviewed the manuscript for important aspects and finalized the manuscript.

All Authors read and approved the final version of the paper.

Corresponding author

Correspondence to Agustín Silberberg.

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Conflict of interest

The authors declare that they have no conflict of interest.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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Communicated by Patrick Van Reempts

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Silberberg, A., Robetto, J., Grimaux, G. et al. Ethical issues about the paradigm shift in the treatment of children with trisomy 18. Eur J Pediatr 179, 493–497 (2020). https://doi.org/10.1007/s00431-019-03531-4

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  • DOI: https://doi.org/10.1007/s00431-019-03531-4

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