Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil
Keywords:
Trisomy, Chromosomes, human, pair 18, Karyotype, Prenatal diagnosis, Survival analysis, TrissomiaAbstract
CONTEXT AND OBJECTIVE: Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease character-ized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18. DESIGN AND SETTING: Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV). METHODS: All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis. RESULTS: Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days. CONCLUSIONS: T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.
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References
Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7:81.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA. Trissomia 18: revisão dos aspectos clínicos, etiológicos, prognóstico e éticos [Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.] Rev Paul Pediatr. 2013;31(1):111-20.
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003;111(4 Pt 1):777-84.
Rosa RF, Rosa RC, Lorenzen MB, et al. Trisomy 18: experience of a reference hospital from the south of Brazil. Am J Med Genet A. 2011;155A(7):1529-35.
Sugayama SMM, Kim CA, Leone CR, et al. História natural de 24 pacientes com trissomia 18 (síndrome de Edwards) e de 20 pacientes com trissomia 13 (síndrome de Patau) [Natural history of 24 patients with trisomy 18 (Edwards’ syndrome) and 20 patients with trisomy 13 (Patau’s syndrome)]. Pediatria (São Paulo). 1999;21(1):69-77.
Kessler RG, Sanseverino MTV, Leistner-Segal S, Magalhães JAA, Giugliani R. Prenatal diagnosis of fetal chromosomal abnormalities: Report of an 18-year experience in a Brazilian public hospital. Genet Mol Biol. 2008;31(4):829-33.
Raniga S, Desai PD, Parikh H. Ultrasonographic soft markers of aneuploidy in second trimester: are we lost? MedGenMed. 2006;8(1):9.
Staebler M, Donner C, Van Regemorter N, et al. Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound? Prenat Diagn. 2005;25(7):567-73.
Botto LD, Correa A, Erickson JD. Racial and temporal variations in the prevalence of heart defects. Pediatrics. 2001;107(3):E32.
Yang JH, Chung JH, Shin JS, et al. Prenatal diagnosis of trisomy 18: report of 30 cases. Prenat Diagn. 2005;25(2):119-22.
Rosa RF, Rosa RC, Lorenzen MB, et al. Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort. Am J Med Genet A. 2012;158A(9):2358-61.
Moerman P, Fryns JP, Goddeeris P, Lauweryns JM. Spectrum of clinical and autopsy findings in trisomy 18 syndrome. J Genet Hum. 1982;30(1):17-38.
Young ID, Cook JP, Mehta L. Changing demography of trisomy 18. Arch Dis Child. 1986;61(10):1035-6.
Viora E, Zamboni C, Mortara G, et al. Trisomy 18: Fetal ultrasound findings at different gestational ages. Am J Med Genet A. 2007;143(6):553-7.
Yeo L, Guzman ER, Day-Salvatore D, et al. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med. 2003;22(6):581-90; quiz 591-2.
Bronsteen R, Lee W, Vettraino IM, Huang R, Comstock CH. Second-trimester sonography and trisomy 18. J Ultrasound Med. 2004;23(2):233-40.
David TJ, Glew S. Morbidity of trisomy 18 includes delivery by caesarean section. Lancet. 1980;2(8207):1295.
Goldstein H, Nielsen KG. Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet. 1988;34(6):366-72.
Lin HY, Lin SP, Chen YJ, et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A. 2006;140(9):945-51.
Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed. 1996;75(1):F38-41.
Niedrist D, Riegel M, Achermann J, Rousson V, Schinzel A. Trisomy 18: changes in sex ratio during intrauterine life. Am J Med Genet A. 2006;140(21):2365-7.
Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008;146(7):827-32.
Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet. 2002;39(9):e54.
Niedrist D, Riegel M, Achermann J, Schinzel A. Survival with trisomy 18--data from Switzerland. Am J Med Genet A. 2006;140(9):952-9.
