Choroid Plexus Cysts in the Fetal Brain

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Abstract
Summary: Choroid plexus cysts may be detected in the fetal choroid plexus on routine second trimester ultrasound scanning. The presence of these cysts is associated with trisomy 18 (Edward syndrome) in 3.47% of cases and with trisomy 21 (Down syndrome) in 0.46% of cases. The cysts themselves almost always disappear by 23 weeks and are thought to be a normal developmental variant. The world literature experience would indicate that the size of the choroid plexus cyst and the presence of bilateral cysts has no bearing on the magnitude of risk of chromosomal abnormality; 76% of babies with trisomy 18 also have other dysmorphic features which may be detectable by ultrasound. It is strongly advised that genetic counselling be undertaken and amniocentesis be considered when choroid plexus cysts are identified in the fetus.