• Daniela Denardin, Fabíola Elizabete Savaris, da CunhaAndré CamposACFetal Medicine, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil., Rosilene da Silveira Betat, Jorge Alberto Bianchi Telles, Luciano Vieira Targa, Aline Weiss, Paulo Ricardo Gazzola Zen, and Rafael Fabiano Machado Rosa.
• Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
• Sao Paulo Med J. 2015 Jul 1; 133 (4): 320325320-5.

Context And ObjectiveTrisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized 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 SettingRetrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).MethodsAll 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.ResultsTen 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.ConclusionsT18 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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