Association of an increased nuchal translucency with total agenesia of the ductus venosus

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.

Keywords

Nucal translucency, arantius