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The isolated choroid plexus cyst

C L Morcos1, L D Platt, D E Carlson

  • 1Department of Obstetrics and Gynecology, Burns and Allen Research Institute of Cedars-Sinai Medical Center, University of California--Los Angeles School of Medicine, 90048, USA.

Obstetrics and Gynecology
|August 12, 1998
PubMed
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Isolated choroid plexus cysts in fetuses rarely indicate aneuploidy, but caution is advised. The risk of chromosomal abnormalities is similar whether the cyst is isolated or accompanied by other findings.

Area of Science:

  • Prenatal diagnostics
  • Fetal medicine
  • Genetics

Background:

  • Choroid plexus cysts are common findings during second-trimester ultrasound.
  • The association between choroid plexus cysts and fetal aneuploidy is a subject of ongoing research.
  • Distinguishing the significance of isolated cysts versus those with additional sonographic markers is crucial for accurate risk assessment.

Purpose of the Study:

  • To determine the karyotypic profiles of fetuses with choroid plexus cysts.
  • To compare the incidence of aneuploidy in fetuses with isolated choroid plexus cysts versus those with additional ultrasonographic findings.

Main Methods:

  • Retrospective review of 7617 second-trimester ultrasound examinations performed between 1993 and 1995.
  • Analysis of karyotypes and presence of other sonographic abnormalities in 210 fetuses identified with choroid plexus cysts.

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  • Comparison of aneuploidy risk between isolated and non-isolated choroid plexus cyst groups.
  • Main Results:

    • 210 cases of choroid plexus cysts were identified (2.8% prevalence).
    • 86% of cases had isolated cysts; 14% had additional ultrasonographic findings.
    • Aneuploidy was rare, found in one fetus with an isolated cyst (trisomy 21) and one with additional findings (trisomy 18). The risk of aneuploidy was not significantly different between isolated and non-isolated cyst groups.

    Conclusions:

    • The incidence of aneuploidy in fetuses with isolated choroid plexus cysts is low.
    • The risk of aneuploidy associated with isolated choroid plexus cysts should be interpreted cautiously and considered alongside the baseline maternal risk.
    • Larger studies are needed to definitively ascertain any subtle differences in aneuploidy risk between isolated and non-isolated choroid plexus cysts.