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Fetal choroid plexus cysts--is a genetic evaluation indicated?
1Department of Obstetrics and Gynaecology, Hadassah University Hospital, Mt. Scopus, Jerusalem, Israel.
Prenatal Diagnosis
|June 1, 1997
Summary
Fetal choroid plexus cysts (CPCs) alone do not warrant genetic testing. However, combining CPC findings with other aneuploidy risk factors can help determine the need for genetic evaluation.
Area of Science:
- Obstetrics and Gynecology
- Prenatal Diagnosis
- Genetics
Background:
- Fetal choroid plexus cysts (CPCs) are common findings during prenatal ultrasound.
- The association between CPCs and fetal aneuploidy remains controversial.
- Existing studies have conflicting results due to varied methodologies.
Purpose of the Study:
- To review the association between fetal choroid plexus cysts and aneuploidy.
- To evaluate the necessity of genetic testing for isolated CPCs.
- To propose a framework for assessing genetic evaluation indications.
Main Methods:
- Comprehensive review of prospective and retrospective studies on CPCs and aneuploidy.
- Analysis of existing literature to identify trends and inconsistencies.
- Clinical experience-based assessment of isolated CPC findings.
Main Results:
- A definitive conclusion on the association between CPCs and aneuploidy cannot be reached from current literature.
- Meta-analysis is not feasible due to heterogeneity in study designs.
- Isolated CPCs as a solitary finding do not necessitate genetic evaluation.
Conclusions:
- Genetic evaluation is not routinely indicated for isolated fetal choroid plexus cysts.
- A scoring system incorporating maternal age, biochemical markers, and ultrasound signs can refine the indication for genetic testing.
- Further research is needed to clarify the specific risks associated with CPCs in the context of other aneuploidy risk factors.