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Management options and parental voice in the treatment of trisomy 13 and 18

Journal of Perinatologyvolume 38pages11351143 (2018) | Download Citation

Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not offered medical or surgical interventions. This practice has begun to change in some hospitals, but remains controversial, and a clear consensus between and even within institutions does not appear to exist. This essay presents a summary of current data and an ethical analysis of the question of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18. While compelling arguments can be found on both sides, it is here suggested that informed parents should be given a stronger voice in these decisions than has traditionally been the case. In an effort to improve clarity and consistency within single institutions, a process for developing an institutional guideline for management of patients with these, or similar, conditions is presented.

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References

  1. 1.

    Springett A, Wellesley D, Greenlees R, Loane M, Addor M-C, Arriola L, et al. Congenital anomalies associated with trisomy 18 or trisomy 13: a registry-based study in 16 European countries, 2000–2011. Am J Med Genet Part A. 2015;167A:3062–9.

  2. 2.

    Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;1:787–9.

  3. 3.

    Patau K, Smith D, Therman E, Inhorn S, Hans P. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960;275:790–93.

  4. 4.

    Koogler TK, Wilfond BS, Ross LF. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33:37–41.

  5. 5.

    Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, et al., for the National Birth Defects Prevention Network. Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet Part A. 2015;9999A:1–13.

  6. 6.

    Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet Part A. 2011;155:2641–46.

  7. 7.

    Mercurio M. Physicians’ refusal to resuscitate at borderline gestational age. J Perinatol. 2005;25:685–9.

  8. 8.

    Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and surgical interventions for children with trisomy 13 and 18. JAMA. 2016;316:420–8.

  9. 9.

    Janvier A, Farlow B, Wilfond BS. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics. 2012;130:293–8.

  10. 10.

    Bruns DA. Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations. Am J Med Genet A. 2015;167A:1807–15.

  11. 11.

    Guon J, Wilfond BS, Farlow B, Brazg T, Janvier A. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet Part A. 2014;164A:308–18.

  12. 12.

    Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics. 2012;129:869–76.

  13. 13.

    Peterson JK, Kochilas LK, Catton KG, Moller JH, Setty SP. Long-term outcomes of children with trisomy 13 and 18 after congenital heart disease interventions. Ann Thorac Surg. 2017;103:1941–9.

  14. 14.

    Costello JP, Weiderhold A, Louis C, Shaughnessy C, Peer SM, Zurakowski D, et al. A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients. Pediatr Cardiol. 2015;36:987–92.

  15. 15.

    Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y, Nakajima Y, et al. Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet Part A. 2008;146A:1372–80.

  16. 16.

    Niermeyer S, Kattwinkel J, Van Reempts P, Nadkarni V, Phillips B, Zideman D, et al. International Guidelines for Neonatal Resuscitation: An Excerpt From the Guidelines 2000 for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care: International Consensus on Science Contributors and Reviewers for the Neonatal Resuscitation Guidelines. Pediatrics. 2000;106:e29.

  17. 17.

    International Liaison Committee on Resuscitation. Part 7: Neonatal resuscitation. Resuscitation. 2005;67:293–303.

  18. 18.

    Kattwinkel J, Perlman JM, Aziz K, Colby C, Fairchild K, Gallagher J, et al. Part 15: neonatal resuscitation: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Circulation. 2010;122:S909–S919.

  19. 19.

    Wyckoff MH, Aziz K, Escobedo MB, Kapadia VS, Kattwinkel J, Perlman JM, et al. Part 13: neonatal resuscitation: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Circulation. 2015;132 Suppl 2:S543–S560.

  20. 20.

    Bosslet GT, Pope T, Rubenfeld GD, et al. An Official ATS/ An Official ATS/AACN/ACCP/ESICM/SCCM Policy Statement: responding to requests for potentially inappropriate treatments in intensive care units. Am J Respir Crit Care Med. 2015;191:1318–30.

  21. 21.

    Mercurio MR. The aftermath of baby doe and the evolution of newborn intensive care. Ga State Univ Law Rev. 2012;25:835–63.

  22. 22.

    Chapman RL, Peterec SM, Bizzarro MJ, Mercurio MR. Patient selection for neonatal extracorporeal membrane oxygenation: beyond severity of illness. J Perinatol. 2009;29:606–11.

  23. 23.

    Adams RC, Levy SE. Council on children with disabilities. Shared decision-making and children with disabilities: pathways to consensus. Pediatrics. 2017;139:e20170956.

  24. 24.

    Jardine J, Glinianaia SV, McConachie H, Embleton ND, Rankin J. Self-reported quality of life of young children with conditions from early infancy: a systematic review. Pediatrics. 2014;134:e1129.

  25. 25.

    Kosiv KA, Gossett JM, Bai S, Collins RT. Congenital heart surgery on in-hospital mortality in trisomy 13 and 18. Pediatrics. 2017;140:e20170772.

  26. 26.

    Beauchamp TL, Childress JF. Principles of biomedical ethics. 7th ed. New York: Oxford University Press; 2013.

  27. 27.

    Rawls J. 1971, A theory of justice. 2nd ed. Cambridge: Harvard University Press; 1999.

  28. 28.

    AAP Committee on Bioethics. Informed consent in decision-making in pediatric practice. Pediatrics. 2016;138:e20161484.

  29. 29.

    Weise KL, Okun AL, Carter BS, et al. Guidance on forgoing life-sustaining medical treatment. Pediatrics. 2017;140:e20171905.

  30. 30.

    Hayman WR, Leuthner SR, Laventhal NT, Brousseau D, Lagatta JM. Cost comparison of mechanically ventilated patients across the age span. J Perinatol. 2015;35:1020–6.

  31. 31.

    Rosenfeld RM, Shiffman RN. Clinical practice guideline development manual: a quality-driven approach for translating evidence into action. Otolaryngol Head neck Surg. 2009;140 Suppl 1:S1–43.

  32. 32.

    Lewis-Newby M, Wicclair M, Pope T, Rushton C, Curlin F, Diekema D, et al., ATS Ethics and Conflict of Interest Committee An official American Thoracic Society policy statement: managing conscientious objections in intensive care medicine. Am J Respir Crit Care Med. 2015;191:219–27.

  33. 33.

    Janis IL. Victims of groupthink: a psychological study of foreign policy decisions and fiascoes. Boston, MA: Houghton Mifflin Company; 1972.

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Author information

Affiliations

  1. Department of Pediatrics and Yale New Haven Children’s Hospital, Yale University School of Medicine, New Haven, CT, USA

    • Alaina K. Pyle
    •  & Mark R. Mercurio
  2. Albert Einstein College of Medicine and Children’s Hospital at Montefiore, Bronx, NY, USA

    • Alan R. Fleischman
  3. Columbia University College of Physicians and Surgeons and Morgan Stanley Children’s Hospital, New York City, NY, USA

    • George Hardart

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Conflict of interest

The authors declare that they have no conflict of interest.

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Correspondence to Alaina K. Pyle.

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DOI

https://doi.org/10.1038/s41372-018-0151-6