Ultraschall Med 2016; 37 - PS9_08
DOI: 10.1055/s-0036-1587912

Prenatal second trimester ultrasound diagnosis of cloacal extrophy

E von Tucher 1, A Nonnenmacher 1, I Schönborn 1, S Boral 2, W Schulze 1, W Henrich 1
  • 1Charité – Universitätsmedizin Berlin, Department of Obstetrics, Berlin, Germany
  • 2Charité – Universitätsmedizin Berlin, Department of Pathology, Berlin, Germany

Purpose: Bladder extrophy is rare and affects 1:30.000 – 50.000 live births, more often boys than girls. Prenatal diagnosis shows normal amniotic fluid with no visible bladder, but normal kidneys.

Cloacal extrophy occurs in 1: 200 000 – 250 000 live births. Affecting the pelvic embryogenesis it results in the persistence of a common cloaca receiving ureters, ileum and a rudimentary hindgut in association with a wide range of urogenital tract anomalies, spinal dysraphism and imperforate anus.

Case: A 27- year old II Gravida II Para presented for second trimester screening. Until then, the pregnancy had been uneventful. The parents were not related. The first child is healthy, family history was unremarkable.

Ultrasound detected an infra-umbilical anterior abdominal wall defect with the non-visualization of the fetal bladder, agenesis of the left kidney and a right single umbilical artery. The column spine appeared alterated with a hypoplastic os sacrum. A “wavy cord-like segment of soft tissue protruding from the anterior abdominal wall” was detected strongly resembling the trunk of an elephant. After interdisciplinary counselling the parents decided to terminate the pregnancy. An autopsy of the abdominal wall defect was permitted confirming the prenatal ultrasound diagnosis showing an abdominal wall defect with no bladder and imperforate anus. There was no appendix, an ureteral opening into the abdominal wall and left sided kidney agenesis with a right single umbilical artery. There was no macroscopic discrimination between the terminal ileum and the Colon. The Raphe testis was partially existent and an intestinal loop opened out into this. An X-ray was not performed.

Conclusion: This case shows the feasibility of the prenatal diagnosis for midline abdominal and pelvic defects during the second trimester and confirms the elephant trunk-like image as an ultrasound criteria for the diagnosis of CE, allowing adequate prenatal counselling.

Fig. 1: Elephant Trunk