CONTEXT AND OBJECTIVE: Trisomy 18 (T18), or @entity7440 , 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 @entity1 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 @entity1 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 @entity1 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 @entity1 (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was @entity299 (n = 7). Intrauterine @entity204 occurred in half of the @entity1 (50%). All live @entity1 (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 @entity204 . The majority of the @entity1 present major malformations identified through ultrasound, such as @entity4297 , which could help in identifying such cases prenatally.

Retrospective @entity7440 ( XXXX ) in southern Brazil.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity299 :: ('MESH:D006331', 'Disease') :: ['congenital heart disease'] @entity204 :: ('MESH:D003643', 'Disease') :: ['neonatal death', 'death'] @entity7440 :: ('MESH:C580500', 'Disease') :: ['Edwards syndrome'] @entity4297 :: ('MESH:D006330', 'Disease') :: ['congenital heart defects']
@entity7440 :: (MESH:C580500,Disease) :: ['Edwards syndrome']
