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Articles » Aneuploidy » Monosomy X

2013-09-24-22 Monosomy X © Cuillier

Monosomy X

Fabrice Cuillier, MD; 
D. Mardamootoo

Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Réunion, France.

Case report

A 28-year-old woman (G4,P3), with non-contributive history presented to our center at 22 weeks. Her first trimester nuchal scan was normal (NT 1 mm, CRL 60 mm) and so was her biochemical screening!

Our examination revealed m
oderate frontal edema of the fetal face, retrognathia, femur and humerus shortening (below the third percentile), pedal edema and moderate aortic hypoplasia with two intracardiac foci

Amniocentesis was refused by the parents. The newborn was delivered at 39 weeks. Retrognathia, pedal edema and aortic hypoplasia were confirmed. The following karyotyping revealed Turner syndrome of the newborn.  

Images 1-6: 22 weeks; the images show facial profile with retrognathia and prenasal edema.




Images 7-1222 weeks; 3D images showing fetal face with retrognathia.




Images 13-2022 weeks; 2D and 3D images showing pedal edema.





Images 21, 22, 2322 weeks; 2D images showing intracardiac echogenic foci.


Images 24, 2522 weeks; 3D and 2D images showing female gender of the fetus.


Images 26, 27, 28: Postnatal images showing pedal edema and retrognathia of the newborn.


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