2010-11-30-14 Ductal agenesis with iliac connection © Cortejoso www.TheFetus.net
Ductal agenesis with iliac connection
Javier Cortejoso, MD., Juan José Arqueros, MD, PhD.
Department of Obstetrics and Gynecology. Hospital Clínico Universitario. Valladolid. Spain.
This is a case of a 35-year-old G2P1 who came for the ultrasound examination at 15 weeks of gestation. The first trimester screening was negative, risk of 1:936 for trisomy 21.
The transvaginal ultrasound examination showed the following findings:
- Inability to visualize the umbilical vein and ductus venosus in its usual location
- Hepatic vein drains into the inferior vena cava
- 3 vessels along the urinary bladder, 2 umbilical arteries and 1 umbilical vein
- Dilated inferior vena cava
Our diagnosis based on the ultrasound examination was Agenesis of ductus venosus with connection to the external iliac vein. This condition can be associated with other anomalies and aneuploidies. We performed amniocentesis and the result showed normal karyotype 46 XX. The molecular genetic testing for PTPN11 gene mutation, typical for Noonan syndrome, was negative.
We followed the patient and ultrasound exams at 16 and 19 weeks confirmed our findings. The fetus developed hydrocephalus and parents decided for the pregnancy termination. The pathologist confirmed our diagnosis.
Images 1,2: Transverse view of the abdomen, there is no umbilical vein visible. Note markedly dilated inferior vena cava.
Images 3,4: Image 3 shows sagittal view demonstrating the absence of the umbilical vein in the typical location. Image 4 shows hepatic vein.
Image 5,6: Cord insertion and 3 umbilical vessels in the abdomen, 2 umbilical arteries and 1 umbilical vein which runs along the umbilical artery. Normally, we see only 2 umbilical arteries, umbilical vein should not be visible on these views.
Images 7,8: Sagittal view showing the inferior vena cava and umbilical vein. Coronal view of the inferior vena cava (blue) and aorta (red).
Images 9,10: Image 9 shows umbilical vein draining into iliac vein. Image 10 shows hydrocephalus which developed around 19 weeks of gestation.
Image 11,12: Image 11 shows a drawing of the condition, type 5 of ductal agenesis when umbilical vein drains into the iliac artery. Pathology image showing 3 umbilical vessels in the lower abdomen, 2 umbilical arteries and 1 umbilical vein.