Pathology
During embryological development, some fetuses may form choroid plexus cysts. These fluid-filled cysts can be detected by a level II ultrasound (18–20 weeks gestation). The finding is relatively common, with a prevalence of ~1%. Choroid plexus cysts (CPC) can be an isolated finding, which confers a 1-12% (variable based on population studied) risk of fetal aneuploidy. The risk of aneuploidy increases to 10.5-12% if other risk factors or ultrasound findings are noted. The idioma size, bilaterality, disappearance/progression of the CPC, and position of the CPC do not have any effect on the risk of aneuploidy. 44-50% of trisomy 18 cases will present with CPC, and 1.4% of trisomy 21 (Down syndrome) cases will present with CPC. ~75% of abnormal karyotypes (obtained by chorionic villus sampling or amniocentesis) associated with CPCs are trisomy 18, while the remainder are trisomy 21.
CPCs typically disappear later during pregnancy, and are considered soft markers. They are likely harmless, and studies have shown that they have no effect on infant and early childhood development.
Read more about this topic: Choroid Plexus
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