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A 30-year-old woman with a normal first trimester Down syndrome screening attended our ultrasound unit for a 20-week scan. The most remarkable anomalies were the presence of a right aortic arch along with a dilated cavum septi pellucidi. In addition, the scan showed an atrioventricular canal and bilateral choroid plexus cysts. Fetal karyotype showed the existence of trisomy 21. A novel association between Down syndrome and dilated cavum septi pellucidi is reported and the relationship between DS and vascular rings is discussed.

Prenatal Diagnosis of Down Syndrome Associated with Right Aortic Arch and Dilated Septum Cavi Pellucidi