Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.
DOI:
https://doi.org/10.36560/14220211291Palavras-chave:
Edwards Syndrome, Trisomy 18, Survivorship, Medical EthicsResumo
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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/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 DOI: https://doi.org/10.1515/jpm-2014-0384
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