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Related Experiment Videos

Isolated choroid plexus cyst(s): an indication for amniocentesis

M J Kupferminc1, R K Tamura, R E Sabbagha

  • 1Section of Maternal-Fetal Medicine, Northwestern University Medical School, Chicago, Illinois.

American Journal of Obstetrics and Gynecology
|October 1, 1994
PubMed
Summary

Isolated choroid plexus cysts in fetuses carry a significant risk of chromosomal abnormalities, approximately 1 in 25. This finding suggests that pregnant women with isolated choroid plexus cysts should be offered genetic testing like amniocentesis.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Choroid plexus cysts are common findings during midtrimester ultrasonography.
  • The association between isolated choroid plexus cysts and chromosomal abnormalities requires further clarification.

Purpose of the Study:

  • To prospectively evaluate the risk of chromosomal abnormalities in fetuses with isolated choroid plexus cysts.
  • To inform clinical management decisions regarding genetic testing in pregnant women.

Main Methods:

  • Prospective study of 9100 pregnant women undergoing midtrimester ultrasonography.
  • Fetal diagnosis of choroid plexus cyst(s) led to an offer of amniocentesis and genetic karyotyping.
  • Follow-up assessment of pregnancy outcomes.

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Main Results:

  • Choroid plexus cysts were identified in 1.1% of fetuses.
  • In fetuses with isolated choroid plexus cysts, the risk of chromosomal abnormality was 1 in 25.
  • Specific abnormalities included trisomy 21, trisomy 18, and unbalanced translocations.

Conclusions:

  • The risk of chromosomal abnormality associated with isolated choroid plexus cysts is significant and warrants genetic evaluation.
  • Amniocentesis should be considered for pregnant women with isolated fetal choroid plexus cysts.
  • This risk profile necessitates careful counseling regarding prenatal diagnostic options.