Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1654
Título: Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosis
Autor: Soares, R
Neto, P
Pereira, N
Cunha, C
Pinto, C
Fonseca, M
Ramos, L
Galhano, E
Palavras-chave: Fibrose Quística
Obstrução Intestinal
Diagnóstico Prenatal
Doenças do Feto
Data: 2010
Editora: BMJ
Citação: BMJ Case Rep. 2010. bcr0320102868
Resumo: Dilated fetal bowel is a sonographic fi nding that is associated to meconium ileus, a feature of cystic fi brosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fi brosis transmembrane regulator gene mutations. A male infant is described, who was referred to our Prenatal Diagnosis Center a 17th week of gestation with a dilated bowel loop on a prenatal scan. Amniocentesis was performed at 23rd week gestation and a homozygous F508del mutation was found. He was born at 38 weeks gestation, after an otherwise unremarkable pregnancy, and admitted to Neonatal Intensive Care Unit. He showed progressive abdominal distension without stools and was transferred to another Hospital to surgery. A total occlusion of terminal ileum with meconium and a microcolon were found, and resection of 8 cm of ileum and an ileostomy were performed. The characteristic sonographic fi nding of a dilated bowel is an indication to search for CF mutations.
Peer review: yes
URI: http://hdl.handle.net/10400.4/1654
Aparece nas colecções:CO - Artigos
GEN - Artigos
PED - Artigos

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