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2019-04-26  Case of the week # 495  © Fabien Ho  www.TheFetus.net

Answer of the case of the week # 495
May 9, 2019 - May 23, 2019

Dr Ho F.1, Dr Cuillier F.2, Pr Doray B3

1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France. ?
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.?
3. Department of Genetics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France. ?

Case report

Regular smoking and severe chronic alcohol consumption several times per week (>500mL of rhum + more than 5 beers everytime), until 20 weeks of gestational age when she was sent to our unit. 

First morphological scan at a late period of time was at 25 weeks of pregnancy.
Our US examination at 30 weeks of gestational age revealed the following anomalies:



Image 1: biometry: no IUGR. Large head >97 percentile.

 




Images 2 to 8subjectively round skull, with flattened forehead, normal nasal bones and normal prefrontal thickness. Philtrum may seem long and round and bilateral ventricular dilation, revealing a complete agenesis of the corpus callosum.


       



Images 9 and 10: hyperechoic kidneys, with normal size, borders, and without pyelocaliceal dilation.


 



Image 11: small conotruncal ventricular septal small defect.

 


Image 12: polyhydramnios.





Image 13: the external ear seemed normal.





We performed an amniocentesis, which showed a normal 46XY caryotype. 
Infectious diseases such as CMV and toxoplasmosis and others were ruled out.

We therefore diagnosed a fetal alcohol syndrome. 
The absence of IGUR might be related to the discontinuation of alcohol uptake since 20 weeks of gestational age.
The parents chose to continue the pregnancy.



References


https://sonoworld.com/TheFetus/page.aspx?id=499

https://sonoworld.com/TheFetus/page.aspx?id=3429

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