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Journal Information

Online ISSN
1305-3124

Established
1993

Editors-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

Statistics Editor
Resul Arısoy

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

Anis Dhouaibia, Kaouther Dimassi, Sana Mtimet, Raouia Radhouani, Amel Triki, Mohamed Faouzi Gara

Article info

Association of an increased nuchal translucency with total agenesia of the ductus venosus. Perinatal Journal 2014;22(3):SE26 DOI: 10.2399/prn.14.S001084

Author(s) Information

Anis Dhouaibia,
Kaouther Dimassi,
Sana Mtimet,
Raouia Radhouani,
Amel Triki,
Mohamed Faouzi Gara

  1. Department of Obstetrics and Gynecology, Mongi Slim Hospital, La Marsa TN
Correspondence

Kaouther Dimassi, Department of Obstetrics and Gynecology, Mongi Slim Hospital, La Marsa TN,

Publication History
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.
Keywords

Nucal translucency, arantius