Ultraschall Med 2016; 37 - PS6_08
DOI: 10.1055/s-0036-1587885

Fetal intrauterine volvulus in cystic fibrosis

W Schulze 1, R Armbrust 1, S Märzheuser 2, E von Tucher 1, L Hinkson 1, W Henrich 1
  • 1Charité – Universitätsmedizin Berlin, Obstetrics, Berlin, Germany
  • 2Charité – Universitätsmedizin Berlin, Pediatric Surgery, Berlin, Germany

Purpose: Up to 15% of fetuses with cystic fibrosis develop meconium ileus and 50% of these are associated with perforation, volvulus and atresia.

Intrauterine volvulus is a life threatening condition and rarely diagnosed prenatally. We present a case of intrauterine volvulus associated with cystic fibrosis in a mother with a previously affected child.

Case: The 26-year-old, gravida 2, para 1 was referred at 35+3 gestational weeks for the planning of delivery. In the first pregnancy she had caesarean section at term for fetal meconium ileus and ileal atresia, with the diagnosis of cystic fibrosis.

In the current pregnancy the patient had normal first and second trimester ultrasound scans. Amniocentesis was not performed due to the presence of a retroplacental hematoma.

Ultrasound examination revealed polyhydramnion, dilated and aperistaltic bowel loops and ascites. In one section the bowel loops corresponded to the so-called “whirlpool sign”.

By suspicion of a volvulus with meconium peritonitis, an urgent caesarean section was performed. A girl, 2490 g (APGAR 9/9/9, umbilical artery pH: 7.30) was delivered. She had a massively distended abdomen with livid discoloration. Laparotomy revealed a partial, 720 ° volvulus and a long-standing perforation in the right upper abdomen. The bowel was filled with meconium pellets. Fifteen cm of necrotic distal ileum were resected and a “double-barrel” ileostomy was performed. A reanastomosis was performed on the 4th postnatal day. The newborn suffered from an exocrine pancreas insufficiency and was diagnosed with cystic fibrosis. The baby was discharged on the 37th postnatal day.

Conclusion: Cystic fibrosis induced meconium ileus can be associated with intrauterine fetal volvulus. Bowel obstruction may not be apparent at the time of anomaly scanning. The obstetric history led to a targeted ultrasound examination at presentation with a high index of suspicion of intrauterine volvulus necessitating delivery. Such timely intervention prevents fatal fetal outcomes.