2006-06-12-10 Trisomy 18 © Cuillier www.thefetus.net/
Fabrice Cuillier, MD*, Lemaire P**, Deshayes M***
* Dept of Obstetrics and Gynecology, Hôpital Félix Guyon ** Sonographer, Moufia"s street, Reunion Island, France
Case report: This is a 30-year-old woman, G2P2. The first scan was performed at 13 weeks. The nuchal translucency was normal (1.5 mm). The ultrasound findings were:
an abnormal brain
a triple leaf on the middle of the brain
abnormal posterior fossa
disorganized brain anatomy
no hypo or hypertelorism
single umbilical artery
bilateral abnormal hands, with fixed fingers
The patient was informed about these fetal anomalies. An amniocentesis was performed (karyotype = Trisomy 18). An interruption of pregnancy was performed. The brain was fixed on Formol and was sent to Paris for anatomic-pathological examination (Dr Delezoide, Robert Debre Hospital).
The brain was described as "diencephalon-rhombencephalic dysplasia". Between the thalami, the third ventricle was not observed, but an inter-hemispheric cyst was present. The corpus callosum was not seen and there was a stenosis of Sylvius‘s aqueduct. A cerebellum and pontine dysplasia was described. According to the anatomopathologist, this brain dysmorphogenesis was not usual for Trisomy 18. Chemotherapy could explain this dysplasia, but the patient denied use of medications.
Endovaginal scan at 14 week showing the flat face
Endovaginal scan at 14 weeks showing thalami which are not fused
Brain images at 14 weeks: Note the unusal structure...
Single umbilical artery
Right and left hands with fixed fingers