Choroid Plexus Cysts

    Choroid Plexus Cysts (CPC) are small fluid filled areas in the brain and they are a common ultrasound finding in the fetus during the 2nd trimester of pregnancy.

    To identify a chroid plexus cyst (CPC), it must be imaged in two orthogonal planes and be greater than or equal to 3 mm in size. In most instances, these are a normal variant.

    However, because many fetuses with chromosomal aneuploidy (primarily Trisomy 18 or Edward syndrome, but also Trisomy 21 or Down syndrome) have been found to have choroid plexus cysts, this ultrasound finding indicates an increase in the risk that one of these chromosome abnormalities is present in the fetus.

    There is controversy regarding the magnitude of this risk. It is estimated that the risk of Trisomy 18 or Trisomy 21 is approximately 1% when isolated choroid plexus cysts (of any number) are present. This risk is modified by factors such as maternal age, maternal serum screen results, and ultrasound findings. At present, however, there is no agreed-upon algorithm for combining these separate factors to determine an overall risk. Since abnormalities of the hands, feet, and heart are common in trisomy 18, this should be specifically mentioned in the ultrasound report that they have been evaluated.

    If a choroid plexus cyst is found it is generally recommended that genetic counseling be provided for this finding. If, following genetic counseling, the patient chooses not to have amniocentesis and the initial ultrasound was performed prior to 17 weeks gestation, or if the anatomy was not well-visualized, it is recommended to have a follow up ultrasound at 20-22 weeks gestation for evaluation of fetal anatomy and growth. The choroid plexus cysts usually resolve by the 3rd trimester of pregnancy (whether or not the fetus has a chromosome abnormality) and are not clinically significant. The follow up ultrasound is recommended solely as a means of better visualizing the anatomy and evaluation of possible IUGR to decrease the chance of aneuploidy.