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2017-03-15  Case of the week # 443  © Emmanuel Julien  www.TheFetus.net

Answer to the case of the week # 443
April 13, 2017 - April 27, 2017

Emmanuel Julien
, MD.
 


Case report


A young pregnant woman (G1P0) with unremarkable history came to our unit at 22 weeks of gestational age for routine ultrasound. We found the following findings:
  • Hyperechogenic and dilated bowel
  • Absent gallbladder during the course of the examination. 

The presence of these two findings in the same fetus, has a positive predictive value and specificity for cystic fibrosis of more than 95%.

A genetic test was done and cystic fibrosis mutation was found in both parents. An amniocentesis revealed homozygote F508 mutation and confirmed our diagnosis.

Check this brilliant answer from Dr. Javier Cortejoso!
 

Images 1-4: 2D images of the fetal abdomen in different planes showing echogenic and dilated bowel, commonly described as ¨echogenic intraabdominal mass¨ in the context of cystic fibrosis.

  



Images 5-8:
2D and color Doppler images of the fetal abdomen revealed the stomach in its normal position, the intraabdominal portion of the portal vein, and absence of the gallblader during the whole examination.

  



Videos 1-3: 2D images show dilated and echogenic bowel, and absence of the gallblader, suggesting prenatal diagnosis of cystic fibrosis.

 
 
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