Prevalence and significance of isolated fetal choroid plexus cysts detected in early pregnancy by transvaginal sonography in women of advanced maternal age

Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound

“…Three CNS malformations were excluded from this category. These were CPC, anencephaly and spina bifida, as in isolation these are weakly associated with aneuploidy 6,25 . Choroid plexus cyst is strongly associated with aneuploidy only when present with multiple anomalies, while the other two anomalies are still only weakly associated.…”

“…There are numerous patterns of association of ultrasound anomalies in fetuses with or without aneuploidy. Many studies focus on describing the karyotypic findings with a single anomaly, for example holoprosencephaly, 1 cystic hygroma, 2 exomphalos, 3 duodenal atresia, 4 cardiac anomalies, 5 choroid plexus cysts, 6 micrognathia, 7 nuchal thickening, 8–10 relative shortness of the femur, 11 echogenic bowel, 12 and single umbilical artery 13 . Other studies and reviews report the sonographic anomalies in routine second trimester ultrasound screening 14 or in groups of known aneuploid fetuses 15–20 .…”