Association of an increased nuchal translucency with total agenesia of the ductus venosus. Perinatal Journal 2014;22(3):SE26
- Department of Obstetrics and Gynecology, Mongi Slim Hospital, La Marsa TN
Kaouther Dimassi, Department of Obstetrics and Gynecology, Mongi Slim Hospital, La Marsa TN,
Conflicts of Interest
No conflicts declared.
Looking for the etiology of an increased nuchal translucency in a patient aged of 22 years G1P0, We performed initially a karyotype whose formula was normal: 46xy.
A Fetal echocardiography realized at 18 and 22 weeks’ gestation was normal and brain MRI was normal also.
At 22 weeks’ gestation, ultrasonography revealed a hepatic vascular abnormality without other symptoms.
The suspected diagnosis was agenesis of the ductus venosus with creation of a high grade arteriovenous shunt between the umbilical vein and the inferior vena cava.
The geneticist suspected also a genetic syndrome but the patient refused any investigation.
Agenesis of the ductus venosus may be one expression of the different possible systemic-portal-umbilical abnormalities. Physiological consequences vary according to the type of substitutive anastomoses.
Agenesis of the ductus venosus can be strictly isolated. It can be also one of a manifestation of a genetic syndrome like NOONAN and JOUBERT SYNDROME.
In our case, Agenesia of the ductus venosus was associated to an increased nuchal translucency. We didn't find a similar case in the literature.
Nucal translucency, arantius