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Choroid plexus cysts in fetuses with trisomy 18.
J Fitzsimmons1, D Wilson, J Pascoe-Mason
1Department of Obstetrics and Gynecology, University of Washington, Seattle.
Obstetrics and Gynecology
|February 1, 1989
Summary
Fetal choroid plexus cysts are significantly more common in trisomy 18 cases. This finding in second-trimester ultrasounds warrants further genetic evaluation for trisomy 18.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal abnormalities
Background:
- Choroid plexus cysts (CPCs) are commonly detected during prenatal ultrasounds.
- A potential association between CPCs and fetal aneuploidies, particularly trisomy 18 (Edwards syndrome), has been suggested.
- However, the precise prevalence of CPCs in fetuses with confirmed trisomy 18 is not well-established.
Purpose of the Study:
- To determine the frequency of choroid plexus cysts in a cohort of fetuses diagnosed with trisomy 18.
- To compare the prevalence of CPCs in trisomy 18 fetuses with that in the general fetal population.
Main Methods:
- Retrospective analysis of 14 fetuses with confirmed trisomy 18, examined at the Central Laboratory for Human Embryology.
- Postmortem ultrasound examinations were performed to identify the presence or absence of choroid plexus cysts.
- Gestational age at examination was recorded.
Main Results:
- Choroid plexus cysts were identified in 5 out of the 14 fetuses with trisomy 18, representing a prevalence of 35.7%.
- All fetuses with CPCs were less than 26 weeks of gestation.
- The prevalence of CPCs among second-trimester trisomy 18 fetuses was 71.4%, a stark contrast to the <1% prevalence in the general second-trimester fetal population.
Conclusions:
- Choroid plexus cysts are a frequent finding in fetuses with trisomy 18.
- The presence of choroid plexus cysts on a second-trimester ultrasound should prompt consideration for further investigation, including genetic and chromosomal analysis, to rule out trisomy 18.