The association of fetal choroid plexus cyst with chromosomal abnormalities: A systematic review

Background: Choroid plexus cysts (CPCs) are commonly detected during second-trimester fetal ultrasounds and are often considered benign, particularly in isolated cases. This systematic review aims to look for an association between fetal CPCs and chromosomal anomalies, aiming to provide insights into their diagnostic and prognostic implications.

Methods: Multiple databases were searched to identify studies examining the association of CPCs with chromosomal abnormalities. Included studies were case reports, case series, cross-sectional studies, cohort studies, and case-control studies. Data were extracted independently by two investigators, and statistical analyses were performed to assess the prevalence of chromosomal anomalies in CPC cases.

Results: A total of 12 studies (845 CPC cases) were included in this review. Isolated CPCs (814 cases) were found to have a 2.3% rate of chromosomal abnormalities, whereas CPCs with additional sonographic anomalies (31 cases) showed a significantly higher rate (35.5%) of chromosomal anomalies (p < 0.00001). 

Discussion: Isolated CPCs typically do not pose a significant risk for chromosomal abnormalities. However, the presence of associated anomalies needs further evaluation, including genetic counselling and invasive testing. The risk of chromosomal abnormalities in isolated CPC cases is higher than the background risk, thus emphasizing the importance of thorough prenatal screening.

Conclusion: Fetal CPCs with additional anomalies carry a high risk of chromosomal abnormalities, particularly trisomy 18. In isolated CPC cases, a cautious approach involving prenatal counselling and potential invasive testing is recommended, especially in higher-risk pregnancies. Further large-scale prospective studies are needed to refine management protocols and enhance prenatal risk assessment strategies.