Question:

My very good friend is 21 weeks pregnant and has been diagnosed with Choroid plexus cysts. Does this automatically mean that her child will be stillborn or born with “Edwards Syndrome”? What can I do to help?

Answer:

A choroid plexus cyst is a fluid-filled structure surrounded by normal tissue in the choroid plexus of the lateral cerebral ventricle – this is an area of the brain. A choroid plexus cyst can be a normal developmental process of the brain. Choroid plexus cysts can be seen on ultrasound in the fetal brain during the end of the first trimester and into the second trimester of pregnancy – this can be normal. By the end of the second trimester the cysts are usually no longer present. Usually they do not cause any problems themselves. However, they can be associated with chromosomal problems such as trisomy 18 (Edward syndrome) – having an extra chromosome number 18.

When choroid plexus cysts are noted on an ultrasound, it is usually recommended that a more detailed ultrasound scan be done to look for other abnormalities. Also, prenatal diagnosis, such as an amniocentesis, is usually offered to couples to see if a chromosomal abnormality is present.

Thus, when choroid plexus cysts are seen during pregnancy on ultrasound, it does not automatically mean the baby will be stillborn or definitely have trisomy 18 or other abnormalities. However, it may be an indication that a problem may be present. This should be discussed with the couple.

Hopefully your friend has been able to discuss these issues with her doctor or a genetic counselor – what the risks might be and what follow-up can be offered. You might suggest she talk to her doctor about a referral if a geneticist or genetic counselor hasn`t already seen her. She can locate a genetics center near her at the NSGC Resource website listed below.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic.