Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil.
OBJECTIVE
Trisomy 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.


METHODS
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.
Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Daniela
D
Denardin
Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Fabíola Elizabete
FE
Savaris
Fetal Medicine, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
André Campos
AC
da Cunha
Fetal Medicine, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Rosilene da Silveira
Rda S
Betat
Fetal Medicine, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Jorge Alberto Bianchi
JA
Telles
Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Luciano Vieira
LV
Targa
Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
Aline
A
Weiss
Universidade Federal de Ciências da Saúde de Porto Alegre, Brazil.
Paulo Ricardo Gazzola
PR
Zen
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.
Rafael Fabiano Machado
RF
Rosa
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000453:epidemiology*; D001938:Brazil / Q000453:epidemiology; D025063:Chromosome Disorders / Q000000981:diagnostic imaging / Q000453:epidemiology*; D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging*; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D007621:Karyotyping; D008297:Male; D066087:Perinatal Death; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D012189:Retrospective Studies; D014314:Trisomy; D000073842:Trisomy 18 Syndrome; D014463:Ultrasonography