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2005-08-22-14 Answer to Case of the week #152 © Cuillier www.TheFetus.net
Answer to Case of the week #152

September 22 - October 6, 2005

Fabrice Cuillier, MD1, Deshayes M.,MD2, Michel J.L., MD3

1. Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Ph : 0262 90 55 22.
2. Moufia’s Street, 97400 Saint-Denis. Reunion Island
3. Pediatric Surgeon, Felix Guyon’s Hospital, Gynecology department, 97400 Saint-Denis. Reunion Island. France.

These are the serial scans of a 37-year-old woman G3, P2 performed at 35 and 37 weeks of gestation. There is no significant past medical or obstetric history.

 

 

Dilated loops of bowel were seen in all the scans. No other fetal anomaly was observed. A C-section was performed and the baby was admitted in the neonatal unit. Radiographic studies showed bowel dilatation. The baby was operated on day three, and surgery confirmed the presence of meconium ileus. A jejunostomy was performed.  
Postnatal DNA testing found the fetus to be homozygous for the Y 122 X (cystic fibrosis) mutation. The chloride- sweat test was positive. The baby also had exocrine pancreatic insufficiency (low levels of elastase and chymotrypsin).
A final diagnosis of cystic fibrosis was made.

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