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Choroid Plexus Cysts

Choroid plexus cysts (CPCs) are fluid-filled sacs (cysts) in the choroid plexus, the part of the brain that makes cerebrospinal fluid, which coats the spinal cord and brain. They are diagnosed via ultrasound.

If your baby is found to have CPCs, it does not necessarily mean he or she will have a birth defect. In most cases, CPCs have no symptoms and go away on their own.

CPCs are fairly common. They occur in about 1 in 50 babies.

CPCs and trisomy 18

  • A rare and serious disorder called trisomy 18 has been associated with CPCs. Trisomy 18 is a chromosomal disorder which involves an extra copy of the 18th chromosome.
  • Infants born with trisomy 18 have severe mental retardation and a variety of other problems, including abnormalities of almost any organ system. Frequently they are stillborn or do not survive infancy.
  • Most babies with trisomy 18 will have other abnormalities in addition to CPCs, so if CPCs are the only abnormalities detected on the ultrasound, the likelihood that your baby has trisomy 18 is low.

Further testing

  • You can have a more detailed ultrasound to look for other abnormalities.
  • The maternal serum screening can assess your risk of having a baby with trisomy 18.
  • Both ultrasound and the maternal serum test are screening tools, meaning that they can't diagnose trisomy 18, but they can indicate a higher risk of the condition. These tests pose no risk to the pregnancy.
  • An amniocentesis can diagnose a chromosome abnormality very accurately. Amniocentesis involves obtaining a sample of the fluid surrounding the baby, which is then used to study the fetal chromosomes. There is a small risk of miscarriage from amniocentesis.
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