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Fetal choroid plexus cysts: beware the smaller cyst.
M C Perpignano1, H L Cohen, V R Klein
1Department of Radiology, North Shore University Hospital-Cornell University Medical College, Manhasset, NY 11030.
Radiology
|March 1, 1992
Summary
Amniocentesis may be needed for fetuses with small choroid plexus cysts, even unilateral ones. Current guidelines for fetal cyst screening may need revision based on these findings.
Area of Science:
- Maternal-Fetal Medicine
- Prenatal Diagnosis
- Genetics
Background:
- Current recommendations for amniocentesis in fetuses with choroid plexus cysts (CPCs) are based on size (≥1.0 cm) and bilaterality.
- The actual incidence and karyotype associations of CPCs may be underestimated by existing literature.
Purpose of the Study:
- To evaluate the incidence of CPCs in a large cohort.
- To determine the association between CPC characteristics (size, laterality) and fetal karyotype abnormalities.
- To reassess the criteria for recommending amniocentesis in fetuses with CPCs.
Main Methods:
- Retrospective analysis of 3,769 patient records.
- Identification and categorization of choroid plexus cysts based on size and laterality.
- Review of amniocentesis results and karyotype findings for affected fetuses.
Main Results:
- Choroid plexus cysts were identified in 2.3% of fetuses, a rate three times higher than previously reported.
- Of 83 fetuses undergoing amniocentesis, 7.2% had abnormal karyotypes, including trisomy 18, mosaic Turner syndrome, and trisomy 21.
- Abnormal karyotypes were found in fetuses with CPCs smaller than 1.0 cm, including unilateral cysts.
Conclusions:
- Fetal karyotyping may be indicated even in the presence of small or unilateral choroid plexus cysts.
- Current guidelines for amniocentesis based solely on CPC size and bilaterality may require re-evaluation.
- These findings complicate the decision-making process for recommending prenatal genetic testing.