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Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosis
  1. Raquel Soares1,
  2. Paula Neto2,
  3. Nuno Pereira3,
  4. Catarina Cunha4,
  5. Carla Pinto5,
  6. Margarida Fonseca2,
  7. Lina Ramos6,
  8. Eulália Galhano3
  1. 1Hospital Pediátrico de Coimbra, Centro Hospitalar de Coimbra, Coimbra, Portugal
  2. 2Maternidade Bissaya Barreto – Unidade de Cuidados Intensivos Neonatais, Centro Hospitalar de Coimbra, Coimbra, Portugal
  3. 3Maternidade Bissaya Barreto – Centro de Diagnóstico Pré-Natal, Centro Hospitalar de Coimbra, Coimbra, Portugal
  4. 4Hospital Pediátrico de Coimbra – Serviço de Cirurgia Pediátrica, Centro Hospitalar de Coimbra, Coimbra, Portugal
  5. 5Hospital Pediátrico de Coimbra – Unidade de Cuidados Intensivos, Centro Hospitalar de Coimbra, Coimbra, Portugal
  6. 6Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal
  1. Correspondence to Raquel Soares, araquelcs{at}yahoo.com

Summary

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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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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