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Bilateral choroid plexus cysts in trisomy 21.

S Rotmensch1, J S Luo, J A Nores

  • 1Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510-8063.

American Journal of Obstetrics and Gynecology
|February 1, 1992
PubMed
Summary

Choroid plexus cysts in fetuses may not always indicate normal fetal karyotype. Diminishing cyst size alone is insufficient reassurance, as large bilateral cysts were observed in trisomy 21 without other anomalies.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Medical genetics

Background:

  • Choroid plexus cysts (CPCs) are common findings during fetal ultrasounds.
  • The indication for fetal karyotyping in fetuses with isolated CPCs remains controversial.
  • Previous studies suggest basing karyotyping decisions on cyst size, bilaterality, persistence, and associated anomalies.

Observation:

  • A case of large bilateral choroid plexus cysts in a fetus with trisomy 21 is presented.
  • The fetus had no other congenital anomalies or ultrasonographic markers suggestive of Down syndrome.
  • The cyst sizes decreased by half over a 3-week follow-up period.

Findings:

  • Diminishing CPC size alone is not a reliable indicator of normal fetal karyotype.
  • CPCs, particularly large bilateral ones, may be associated with trisomy 21, not exclusively trisomy 18.

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  • Fetal karyotype assessment should be considered even in the absence of other sonographic abnormalities.

    • Implications:

    • Rethinking current guidelines for genetic counseling in fetuses with CPCs.
    • Highlighting the potential association between CPCs and trisomy 21.
    • Emphasizing the need for comprehensive evaluation beyond isolated cyst characteristics.