Conducta médica frente al diagnóstico prenatal de trisomía 18: ¿se aproxima un cambio de paradigma?

Guadalupe Grimaux; Gustavo Páez

doi:10.5294/pebi.2022.26.2.6

Autores/as

Guadalupe Grimaux Autor/a Universidad Austral https://orcid.org/0000-0002-7594-5610
Gustavo Páez Autor/a Universidad Austral https://orcid.org/0000-0003-3862-7426

DOI:

https://doi.org/10.5294/pebi.2022.26.2.6

Palabras clave:

síndrome de Edwards, trisomía, aborto, cuidados paliativos, diagnóstico prenatal, bioética, ética

Resumen

El objetivo del trabajo es analizar dos conductas médicas opuestas en la vida prenatal de los niños con trisomía 18: el aborto y los cuidados paliativos perinatales. Se realizó una búsqueda bibliográfica en PubMed a partir de los términos “trisomy 18”, “abortion” y “palliative care”. Actualmente, están cambiando las conductas médicas dirigidas a los niños nacidos con trisomía 18, debido a que ya no se la considera una enfermedad incompatible con la vida. Este cambio de paradigma en la conducta médica posnatal debería reflejarse en la conducta prenatal, para ofrecer a los padres alternativas distintas al aborto. Los cuidados paliativos fetales y perinatales constituyen una respuesta ética válida para el tratamiento de niños con trisomía 18.

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Citas

Mullin J, Wolfe J, Bluebond-Langner M, Craig F. Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents. Am J Med Genet A. 2019;179(6):903-907. DOI: https://doi.org/10.1002/ajmg.a.61149

Hurley EH, Krishnan S, Parton LA, Dozor AJ. Differences in perspective on prognosis and treatment of children with trisomy 18. Am J Med Genet A. 2014;164A(10):2551-6. DOI: https://doi.org/10.1002/ajmg.a.36687

Cereda A, Carey JC. The trisomy 18. Orphanet J Rare Dis. 2012;7:81. DOI: https://doi.org/10.1186/1750-1172-7-81

Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics. 2012;129(5):869-76. DOI: https://doi.org/10.1542/peds.2011-2139

Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;1(7128):787-90. DOI: https://doi.org/10.1016/S0140-6736(60)90675-9

Thorvilson MJ, Copeland AJ. Incompatible with care: examining trisomy 18 medical discourse and families’ counter-discourse for recuperative ethos. J Med Humanit. 2017;39(3):349-360. DOI: https://doi.org/10.1007/s10912-017-9436-6

Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, et al. National birth defects prevention network. Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A. 2016;170A(4):825-37. DOI: https://doi.org/10.1002/ajmg.a.37495

Patterson J, Taylor G, Smith M, Dotters-Katz S, Davis AM, Price W. Transitions in care for infants with trisomy 13 or 18. Am J Perinatol. 2017;34(9):887-894. DOI: https://doi.org/10.1055/s-0037-1600912

Jacobs AP, Subramaniam A, Tang Y, Philips JB 3rd, Biggio JR, Edwards RK, et al. Trisomy 18: a survey of opinions, attitudes, and practices of neonatologists. Am J Med Genet A. 2016;170(10):2638-643. DOI: https://doi.org/10.1002/ajmg.a.37807

Wilkinson DJC, De Crespigny L, Lees C, Savulescu J, Thiele P, Tran T, et al. Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK. Prenatal Diagn. 2014;34(1):42-49. DOI: https://doi.org/10.1002/pd.4249

Yates AR, Hoffman T, Shepherd E, Boettner B, Mcbride K. Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18. J Genet Couns. 2011;20(5):495-509. DOI: https://doi.org/10.1007/s10897-011-9373-x

Kaulfus ME, Gardiner H, Hashmi SS, Mendez-Figueroa H, Miller VJ, Stevens B, et al. Attitudes of clinicians towards surgery and trisomy 18. J Genet Couns. 2019;28(3):654-663. DOI: https://doi.org/10.1002/jgc4.1089

Goc B, Walencka Z, Włoch A, Wojciechowska E, Wiecek-Włodarska D, Krzystolik-Ładzińska J, et al. Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome. J Appl Genet. 2006;47(2):165-70. DOI: https://doi.org/10.1007/BF03194617

Nguyen JE, Salemi JL, Tanner JP, Kirby RS, Sutsko RP, Ashmeade TL, et al. Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. J Perinatol. 2018;38(12):1674-1684. DOI: https://doi.org/10.1038/s41372-018-0227-3

Nishiyama M, Sekizawa A, Ogawa K, Sawai H, Nakamura H, Samura O, et al. Factors affecting parental decisions to termite pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study. Prenat Diagn. 2016;36(12):1121-126. DOI: https://doi.org/10.1002/pd.4947

Dobson LJ, Reiff ES, Little SE, Wilkins-Haug L, Bromley B. Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). Prenat Diagn. 2016;36(5):456-62. DOI: https://doi.org/10.1002/pd.4805

Hume H, Chasen ST. Trends in timing of prenatal diagnosis and abortion for fetal chromosomal abnormalities. Am J Obstet Gynecol. 2015;213(4):545.e1-4. DOI: https://doi.org/10.1016/j.ajog.2015.06.008

Silberberg A, Robetto J, Grimaux G, Nucifora L, Moreno Villares JM. Ethical issues about the paradigm shift in the treatment of children with trisomy 18. Eur J Pediatr. 2020;179(3):493-497. DOI: https://doi.org/10.1007/s00431-019-03531-4

Gekas J, Langlois S, Ravitsky V, Audibert F, Van den Berg D, Haidar H, et al. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma. Appl Clin Genet. 2014;7:127-131. DOI: https://doi.org/10.2147/TACG.S35602

Etchegaray A, Palma F, De Rosa R, Russo RD, Beruti E, Fregonese R, et al. Cirugía fetal de mielomeningocele: evolución obstétrica y resultados perinatales a corto plazo de una cohorte de 21 casos. Surg Neurol Int. 2018;9(Suppl 4):S73-S74. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282175/

Otayza F. Cirugía fetal del mielomeningocele fetal. Rev Med Clin Condes. 2015;26(4):442-451. DOI: https://doi.org/10.1016/j.rmclc.2015.07.003

De Mézerac I. Un hijo para la eternidad. Madrid: Rialp; 2004.

Rodríguez Martín E. La extensión de la eugenesia en el ámbito sanitario español a través del diagnóstico prenatal. Cuad Bioét. 2012;23:53-70. Disponible en: http://aebioetica.org/revistas/2012/23/77/53.pdf

Marc-Aurele KL, Nelesen R. A five-year review of referrals for perinatal palliative care. J Palliat Med. 2013;16(10):1232-236. DOI: https://doi.org/10.1089/jpm.2013.0098

Janvier A, Farlow B, Barrington KJ. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet. 2016;172(3):279-87. DOI: https://doi.org/10.1002/ajmg.c.31526

Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH. A fetal diagnostic center’s referral rate for perinatal palliative care. Ann Palliat Med. 2018;7(2):177-185. DOI: https://doi.org/10.21037/apm.2017.03.12

Aiyer AN, Ruiz G, Steinman A, Ho GY. Influence of physician attitudes on willingness to perform abortion. Obstet Gynecol. 1999;93: 576-80. DOI: https://doi.org/10.1016/S0029-7844(98)00467-0

Janvier A, Farlow B, Barrington KJ, Bourque CJ, Brazq T, Wilfond B. Building trust and improving communication with parents of children with trisomy 13 and 18: a mixed-methods study. Palliat Med. 2020;34(3):262-271. DOI: https://doi.org/10.1177/0269216319860662

Hasegawa SL, Fry JT. Moving toward a shared process: the impact of parent experiences on perinatal palliative care. Semin Perinatol. 2017;41(2):95-100. DOI: https://doi.org/10.1053/j.semperi.2016.11.002

Janvier A, Farlow B, Barrington K. Cardiac surgery for children with trisomies 13 and 18: Where are we now? Semin Perinatol. 2016;40(4):254-60. DOI: https://doi.org/10.1053/j.semperi.2015.12.015

Dotters-Katz SK, Kuller JA, Grace MR, Laifer SA, Strauss RA. Management considerations for ongoing pregnancies complicated by trisomy 13 and 18. Obstet Gynecol Surv. 2016;71(5):295-300. DOI: https://doi.org/10.1097/OGX.0000000000000304

Carey JC. Attitudes of neonatologists toward delivery room management of confirmed trisomy 18: potential factors influencing a changing dynamic. Pediatrics. 2009;123(3):e547-8. DOI: https://doi.org/10.1542/peds.2008-3729

Venneman SS, Narnor-Harris P, Perish M, Hamilton M. “Allow natural death” versus “do not resuscitate”: three words that can change a life. J Med Ethics. 2008;34(1):2-6. DOI: https://doi.org/10.1136/jme.2006.018317

Koogler TK, Wilfond BS, Friedman Ross L. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33(2):37-41. DOI: https://doi.org/10.2307/3528153

Wilkinson DJ. Antenatal diagnosis of trisomy 18, harm and parental choice. J Med Ethics. 2010;36(11):644-45. DOI: https://doi.org/10.1136/jme.2010.040212

Cerruti M. Terapie fetali: questioni etiche. Medicina e Morale. 2016;4:403-432. DOI: https://doi.org/10.4081/mem.2016.441

Duque JAP, Ferreira CF, Zachia SA, Sanseverino MTV, Gus R, Magalhães JAA. The natural history of pregnancies with prenatal diagnosis of trisomy 18 or trisomy 13: retrospective casos of a 23-year experience in a Brazilian public hospital. Genet Mol Biol. 2019;42(1 suppl 1):286-296. https://doi.org/10.1590/1678-4685-gmb-2018-0099

Sgreccia E. Manual de Bioética. Fundamentos y ética biomédica. Madrid: Biblioteca autores cristianos; 2015.

Monfort Prades JM. Julián Marías. Una respuesta responsable al problema del aborto. Cuad Bioét. 2010;21:341-354. Disponible en: http://aebioetica.org/revistas/2010/21/3/73/341.pdf

López Moratalla N, Santiago E, Herranz Rodríguez G. Inicio de la vida de cada ser humano: ¿qué hace humano el cuerpo del hombre? Cuad Bioét. 2011;22:283-308. Disponible en: http://aebioetica.org/revistas/2011/22/2/75/283.pdf

Asamblea General de la ONU. (1948). Declaración Universal de los Derechos Humanos (217 (III) A) [Internet]. Disponible en: https://www.un.org/es/about-us/universal-declaration-of-human-rights

Pardo Vargas RA, Aracena M, Cares C, Cortés F, Daundes V, Mellado C, et al. Congenital anomalies of poor prognosis. Genetic consensus committee. Rev Chil Pediatr. 2016;87(5):422-431. DOI: https://doi.org/10.1016/j.rchipe.2016.04.005

De Martini S. El médico frente al aborto. Buenos Aires: Educa; 2012.

Spaemann R. Tema de estudio: el comienzo de la vida humana, filosofía y biología. Cuad Bioét. 1997;1027-1033. Disponible en: http://aebioetica.org/revistas/1997/3/31/1027.pdf

Pravin RR. Modern marvels of children’s palliative care. J Palliat Med. 2015;18(12):1078-1079. DOI: https://doi.org/10.1089/jpm.2015.0289