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BMJ Case Rep. 2010; 2010: bcr0320102868.
Published online Oct 8, 2010. doi:  10.1136/bcr.03.2010.2868
PMCID: PMC3027772
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Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosis
Raquel Soares,1 Paula Neto,2 Nuno Pereira,3 Catarina Cunha,4 Carla Pinto,5 Margarida Fonseca,2 Lina Ramos,6 and Eulália Galhano3
1Hospital Pediátrico de Coimbra, Centro Hospitalar de Coimbra, Coimbra, Portugal
2Maternidade Bissaya Barreto – Unidade de Cuidados Intensivos Neonatais, Centro Hospitalar de Coimbra, Coimbra, Portugal
3Maternidade Bissaya Barreto – Centro de Diagnóstico Pré-Natal, Centro Hospitalar de Coimbra, Coimbra, Portugal
4Hospital Pediátrico de Coimbra – Serviço de Cirurgia Pediátrica, Centro Hospitalar de Coimbra, Coimbra, Portugal
5Hospital Pediátrico de Coimbra – Unidade de Cuidados Intensivos, Centro Hospitalar de Coimbra, Coimbra, Portugal
6Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal
Correspondence to Raquel Soares, araquelcs/at/yahoo.com
Abstract
Dilated fetal bowel is a sonographic finding that is associated to meconium ileus, a feature of cystic fibrosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fibrosis 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 finding of a dilated bowel is an indication to search for CF mutations.
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