Bilateral choroid plexus cysts
Hello Dr.
Liu: During my prenatal check-up, the ultrasound revealed that the fetus has bilateral choroid plexus cysts.
I underwent amniocentesis on November 2nd, and the doctor said it would take three weeks to receive the report.
If there are abnormalities, they will recommend termination of the pregnancy.
I would like to know how common such cases are and what the typical outcomes are in this situation.
Xiao Chen, 20~29 year old female. Ask Date: 2012/11/08
Dr. Liu Yuhong reply Obstetrics and Gynecology
During the second trimester of pregnancy (weeks 13-28), 1% to 3% of fetuses may be found to have choroid plexus cysts on ultrasound, but most of these cysts will disappear by the third trimester.
The likelihood of a fetus with choroid plexus cysts having Edwards syndrome (a chromosomal abnormality, trisomy 18) is only 1 in 400.
If the pregnancy is not advanced maternal age, the first-trimester Down syndrome screening is normal, and the detailed fetal ultrasound is normal, the chance of chromosomal abnormalities in the fetus is even lower.
In such cases, amniocentesis may not even be necessary, and one can simply wait for the results with peace of mind, which are usually good news.
Reply Date: 2012/11/08
More Info
Bilateral choroid plexus cysts (CPCs) are relatively common findings during routine prenatal ultrasounds, occurring in approximately 1% to 3% of pregnancies during the second trimester. These cysts are fluid-filled sacs located in the brain's choroid plexus, which is responsible for producing cerebrospinal fluid. While the discovery of CPCs can be concerning for expectant parents, it is important to understand the context and implications of this finding.
Firstly, the majority of bilateral choroid plexus cysts are benign and often resolve on their own as the pregnancy progresses. In fact, many cases of CPCs identified in the second trimester disappear by the third trimester. The presence of these cysts is generally not associated with any significant risk to the fetus, especially if there are no other concerning ultrasound findings or maternal risk factors.
Regarding the concern about chromosomal abnormalities, studies indicate that the presence of bilateral CPCs is associated with a very low risk of conditions such as trisomy 18 (Edwards syndrome), which is a serious genetic disorder. The estimated risk of having a chromosomal abnormality in a fetus with isolated bilateral CPCs is about 1 in 400, which is relatively low. If the mother is not of advanced maternal age, and if other screening tests (such as the first-trimester combined screening or non-invasive prenatal testing) have returned normal results, the likelihood of a chromosomal abnormality is further reduced.
In your case, since you have undergone amniocentesis, the results will provide more definitive information regarding the genetic status of the fetus. It is understandable to feel anxious while waiting for these results, but it is important to remember that many pregnancies with CPCs result in healthy outcomes. The recommendation for termination of pregnancy based on the presence of CPCs alone is not standard practice unless there are additional concerning findings or significant risk factors.
As for the management of your pregnancy, it is crucial to maintain open communication with your healthcare provider. They will monitor the situation closely and provide guidance based on the results of the amniocentesis and any further ultrasounds. If the results are normal, it is likely that no additional intervention will be necessary, and you can continue with your pregnancy as planned.
In summary, while the discovery of bilateral choroid plexus cysts can be alarming, it is essential to approach the situation with a balanced perspective. The majority of cases resolve without complications, and the risk of associated chromosomal abnormalities is low, especially in the absence of other risk factors. Awaiting the results of the amniocentesis will provide clarity and help guide your next steps. In the meantime, focus on self-care and seek support from your healthcare team and loved ones during this time.
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