Abstract
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.
Highlights
Despite both conditions present retroesophageal rings amenable to prenatal diagnosis, Down syndrome (DS) has been associated with left aortic arch plus aberrant right subclavian artery (LAA/ARSA), but not with right aortic arch plus left subclavian artery (RAA/ALSA)
We present a fetus with this latter association together with a dilated cavum septi pellucidi, an anomaly never described in association with DS
The screening was normal and the most significant findings at 20 weeks were the presence of a complete vascular ring and a dilated cavum septi pellucidi, both conditions unrelated with DS
Summary
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. 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
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