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Prenatal sonographic detection of isolated fetal choroid plexus cysts: should we screen for trisomy 18?
1Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia 19107, USA.
Insights
Fetal choroid plexus cysts increase aneuploidy risk, mainly trisomy 18. However, routine amniocentesis for isolated cysts is not cost-effective and poses risks, making it an unrecommended screening policy.
Area of Science:
- Prenatal Diagnosis
- Medical Economics
- Genetics
Background:
- Fetal choroid plexus cysts are associated with an increased risk of aneuploidy, particularly trisomy 18.
- Prenatal ultrasonography frequently identifies choroid plexus cysts, leading to recommendations for amniocentesis.
Purpose of the Study:
- To conduct a risk/benefit and economic analysis of performing amniocentesis in fetuses with isolated choroid plexus cysts.
- To evaluate the cost-effectiveness and clinical benefit of this diagnostic approach.
Main Methods:
- Analysis of published data on isolated choroid plexus cyst frequency in second-trimester fetuses.
- Assessment of trisomy 18 risk, population frequency, and natural history.
- Evaluation of amniocentesis risks, including fetal loss, and associated costs.
Main Results:
- Performing amniocentesis for isolated choroid plexus cysts is not cost-effective.
- The procedure results in the loss of approximately 25 normal fetuses for every one infant with trisomy 18 detected who survives past five months.
Conclusions:
- Routine amniocentesis for isolated fetal choroid plexus cysts is not a beneficial screening policy.
- The risks associated with amniocentesis outweigh the benefits for detecting trisomy 18 in this context.
Abstract:
It has been established that the finding of a fetal choroid plexus cyst confers an increased risk of aneuploidy, predominantly trisomy 18. In view of this association many investigators have advocated amniocentesis when a choroid plexus cyst is identified by prenatal ultrasonography. A risk/benefit and economic analysis of such a policy is presented. When the following factors are taken into account-published data on the frequency of isolated choroid plexus cysts in second trimester fetuses, the risk of trisomy 18 in these fetuses, the population frequency of trisomy 18, the natural history and prognosis for these infants, and the risks and cost of amniocentesis--it is concluded that performing amniocentesis on second trimester fetuses with choroid plexus cysts is neither cost effective nor beneficial. For the detection of one infant with trisomy 18 that will survive past five months, 25 normal fetuses would be lost owing to amniocentesis. Identification of trisomy 18 by determining the presence of choroid plexus cysts in fetuses is not a worthwhile screening policy.
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