Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.

Autores

  • A. E. Chiaradia Medical Student at Federal University of Mato Grosso (Universidade Federal do Mato Grosso)
  • A. L. Yanai Full professor at Federal University of Mato Grosso and Hematologist and Pediatric Oncologist at Hospital Dois Pinheiros, Sinop, Mato Grosso.
  • A. Silva Medical Student at Federal University of Mato Grosso (Universidade Federal do Mato Grosso) http://orcid.org/0000-0002-8242-4215

DOI:

https://doi.org/10.36560/14220211291

Palavras-chave:

Edwards Syndrome, Trisomy 18, Survivorship, Medical Ethics

Resumo

Aim: Reporting the case of a patient with Edwards syndrome of above-average survival. Edwards syndrome is a chromosomal disorder with multiple and severe congenital malformations, a profound delay in neuropsychomotor development, and an average survival of around 2.5 to 14.5 days.

Description: Patient age of seven years and six months, female, who presented at birth, congenital heart disease, microcephaly, micrognathia, cutis marmorata, pectus escavatum and other typical alterations of Edwards Syndrome. Intensive interventions were performed, and karyotype exam confirmed full trisomy of chromosome 18. The patient currently undergoes intensive occupational and speech-language therapy, physiotherapy, and is stable.

Comments: Edwards syndrome has a reserved prognosis, and although it is proven that aggressive interventions improve the survival of these patients, there is still no consensus in neonatal resuscitation protocols, and there are differences in perception about prognosis and therapeutic recommendations. However, parental autonomy must always be considered, and it is known that patients who survive to childhood bring positive results in the family circle. The discussion of prognosis and therapy is necessary and should aim at the homogenization of medical conduct

Referências

BATY, B. J. et al. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. American Journal of Medical Genetics Part A, [S. l.], v. 49, n. 2, p. 189–194, 1994b. DOI 10.1002/ajmg.1320490205

BATY, B. J.; BLACKBURN, B. L.; CAREY, J. C. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. American Journal of Medical Genetics, [S. l.], v. 49, n. 2, p. 175–188, 1994a. DOI 10.1002/ajmg.1320490204

CAREY, J. C. Trisomy 18 and Trisomy 13 Syndromes. In: CASSIDY, S. B.; ALLANSON, J. E. (org.). Management of Genetic Syndromes. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. p. 807–823. E-book. DOI 10.1002/9780470893159.ch54

CEREDA, A.; CAREY, J. C. The trisomy 18 syndrome. Orphanet journal of rare diseases, [S. l.], v. 7, n. 1, p. 81, 2012. DOI 10.1186/1750-1172-7-81

CRIDER, K. S.; OLNEY, R. S.; CRAGAN, J. D. Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003. American Journal of Medical Genetics Part A, [S. l.], v. 146A, n. 7, p. 820–826, 2008. DOI 10.1002/ajmg.a.32200

DOTTERS-KATZ, S. K. et al. Management considerations for ongoing pregnancies complicated by trisomy 13 and 18. Obstetrical & gynecological survey, [S. l.], v. 71, n. 5, p. 295–300, 2016. DOI 10.1097/OGX.0000000000000304

EDWARDS, J. H. et al. A new trisomic syndrome. Lancet (London, England), [S. l.], v. 1, n. 7128, p. 787–790, 1960. DOI 10.1016/s0140-6736(60)90675-9

HURLEY, E. H. et al. Differences in perspective on prognosis and treatment of children with trisomy 18. American Journal of Medical Genetics Part A, [S. l.], v. 164, n. 10, p. 2551–2556, 2014. DOI 10.1002/ajmg.a.36687

IMATAKA, G.; SUZUMURA, H.; ARISAKA, O. Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. Molecular Medicine Reports, [S. l.], v. 13, n. 3, p. 2457–2466, 2016. DOI 10.3892/mmr.2016.4806

JANVIER, A.; FARLOW, B.; WILFOND, B. S. The Experience of Families With Children With Trisomy 13 and 18 in Social Networks. PEDIATRICS, [S. l.], v. 130, n. 2, p. 293–298, 2012. DOI 10.1542/peds.2012-0151

LIN, H.-Y. et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004. American Journal of Medical Genetics Part A, [S. l.], v. 140A, n. 9, p. 945–951, 2006. DOI 10.1002/ajmg.a.31173

LORENZ, J. M.; HARDART, G. E. Evolving medical and surgical management of infants with trisomy 18: Current Opinion in Pediatrics, [S. l.], v. 26, n. 2, p. 169–176, 2014. DOI 10.1097/MOP.0000000000000076

NELSON, K. E. et al. Survival and Surgical Interventions for Children With Trisomy 13 and 18. JAMA, [S. l.], v. 316, n. 4, p. 420, 2016. DOI 10.1001/jama.2016.9819

RASMUSSEN, S. A. et al. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics, [S. l.], v. 111, n. 4, p. 777–784, 2003. DOI 10.1542/peds.111.4.777

ROBERTS, W. et al. Anatomy of trisomy 18: Trisomy 18. Clinical Anatomy, [S. l.], v. 29, n. 5, p. 628–632, 2016. DOI 10.1002/ca.22725

ROSA, R. F. M. Trissomia 18: revisão dos aspectos clínicos, etiológicos, prognósticos e éticos. Revista Paulista de Pediatria, [S. l.], v. 31, n. 1, p. 111–120, 2013. DOI 10.1590/S0103-05822013000100018

WATSON, W. J. et al. Sonographic findings of trisomy 18 in the second trimester of pregnancy. Journal of Ultrasound in Medicine, [S. l.], v. 27, n. 7, p. 1033–1038, 2008. DOI 10.7863/jum.2008.27.7.1033

WIECHEC, M. et al. How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester? Journal of Perinatal Medicine, [S. l.], v. 44, n. 2, 2016. DOI 10.1515/jpm-2014-0384

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Publicado

2021-01-26

Como Citar

Chiaradia, A. E., Yanai, A. L., & Silva, A. (2021). Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report. Scientific Electronic Archives, 14(2), 66–69. https://doi.org/10.36560/14220211291