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Are choroid plexus cysts an indication for second-trimester amniocentesis?
B R Benacerraf1, B Harlow, F D Frigoletto
1Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
American Journal of Obstetrics and Gynecology
|April 1, 1990
Summary
Choroid plexus cysts in fetuses may be associated with trisomy 18. However, amniocentesis for isolated cysts could lead to unnecessary procedures in normal pregnancies.
Area of Science:
- Medical research
- Prenatal diagnostics
- Genetics
Background:
- Choroid plexus cysts (CPCs) are common findings in fetal ultrasounds.
- Previous studies on the association between CPCs and trisomy 18 were limited by small sample sizes.
- The clinical significance of isolated CPCs in relation to aneuploidy remains unclear.
Purpose of the Study:
- To determine the incidence of CPCs in fetuses with trisomy 18.
- To assess the association between isolated CPCs and trisomy 18.
- To evaluate the implications for prenatal diagnostic strategies.
Main Methods:
- Retrospective analysis of 26 fetuses diagnosed with trisomy 18.
- Review of ultrasonographic findings, including CPCs and other anomalies.
- Calculation of incidence rates and diagnostic yield based on population data.
Main Results:
- Among 26 fetuses with trisomy 18, 20 had major sonographic anomalies.
- CPCs were present in 30% of fetuses with trisomy 18 between 15-20 weeks gestation.
- Approximately 30% of trisomy 18 fetuses may present with isolated CPCs.
- The calculated ratio suggests one trisomy 18 fetus for every 477 normal fetuses with isolated CPCs.
Conclusions:
- Isolated choroid plexus cysts in the second trimester are infrequently associated with trisomy 18.
- Routine amniocentesis for isolated CPCs may lead to a high rate of false positives.
- Current findings suggest a conservative approach to genetic counseling and invasive testing for isolated CPCs.