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Related Experiment Videos

Choroid plexus cysts: not associated with Down syndrome

B Bromley1, R Lieberman, B R Benacerraf

  • 1Department of Obstetrics & Gynecology, Massachusetts General Hospital, Boston, USA.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|October 1, 1996
PubMed
Summary

Choroid plexus cysts in second-trimester fetuses are not significantly associated with trisomy 21. This finding suggests that isolated choroid plexus cysts should not increase a patient's calculated risk for trisomy 21.

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Area of Science:

  • Prenatal Diagnosis
  • Fetal Ultrasound
  • Genetics

Background:

  • Choroid plexus cysts (CPCs) are common findings during second-trimester fetal ultrasound.
  • The association between CPCs and chromosomal abnormalities, particularly trisomy 21 (Down syndrome), remains a subject of investigation.

Purpose of the Study:

  • To investigate the association between the presence of choroid plexus cysts in fetuses during the second trimester and the risk of trisomy 21.
  • To determine if CPCs should be considered a significant marker for trisomy 21 in prenatal screening.

Main Methods:

  • Prospective evaluation of 32,053 fetuses scanned between 14-22 weeks for CPCs over a 7-year period.
  • Review of medical records for follow-up and comparison with karyotype results of fetuses with and without trisomy 21.

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  • Statistical analysis using chi-squared (X2) to compare prevalence rates.

    • Main Results:

    • A total of 473 fetuses with CPCs were identified. The prevalence of CPCs in the general population was 1.38%.
    • Among 143 fetuses with confirmed trisomy 21, only two (1.40%) had CPCs, and both had other sonographic abnormalities.
    • The difference in CPC prevalence between fetuses with and without trisomy 21 was not statistically significant (RR = 1.02, 95% CI = 0.26-4.03).

    Conclusions:

    • Choroid plexus cysts are found with similar frequency in fetuses with trisomy 21 as in the general fetal population.
    • The presence of isolated choroid plexus cysts in the second-trimester fetus should not independently increase the calculated risk for trisomy 21.
    • CPCs should not be used as a sole indicator for further invasive testing for trisomy 21 when no other risk factors are present.