2007-11-10-05 Cystic fibrosis and meconium ileus © Cuillier www.thefetus.net/
Cystic fibrosis and meconium ileus
Fabrice Cuillier, MD.
* Department of Gynecology, Felix Guyon Hospital, 97400 Saint- Denis, Ile de la Reunion, France; tel: 0262 90 55 22; fax : 0262 90 77 30.
This is a 25 year-old pregnant woman with a non-contributive history. At 32 weeks an abnormal intestinal dilatation of the fetus was discovered on ultrasound. Her first and second ultrasonographic screening had been normal and so was the triple test.
During our initial examination the fetus appeared structurally normal, without polyhydramnios, but an abnormal ileal and jejunal dilatation was present (Figure N°1A, 1B, 1C, 1D, 1E) together with a bilateral idiopathic pyelectasia (Figure N°2). No other signs of aneuploidy or meconium peritonitis were present. We didn"t find any signs of a congenital infection either.
An amniocentesis was performed and revealed a normal karyotype (46, XX), but the diagnosis of cystic fibrosis was confirmed, despite the negative familial history. DeltaF508 mutations was present in both parents and affected the fetus.
The fetus was delivered at 38 weeks and at surgery a small bowel obstruction with meconium ileus was found (Figure N°3). The postsurgical course was uneventful.
Images 1, 2: 32 weeks; Transverse scans of the fetal abdomen show the ileal and jejunal dilatation of the fetus.
Images 3, 4: 32 weeks; Transverse and oblique scans of the fetal abdomen show the ileal and jejunal dilatation of the fetus.
Images 5, 6: 32 weeks; Transverse and parasagittal scans of the fetal abdomen showing the idiopathic pyelectasia.
Image 7: 38 weeks; a transverse scan of the fetal abdomen shows the small bowel obstruction with meconium ileus.