Objective: To determine the risk of Down syndrome in the second-trimes
ter fetuses with choroid plexus cyst(s) in Taiwanese. Methods: A prosp
ective study was performed during a period of 35 months to collect fet
uses with choroid plexus cyst(s) diagnosed by routine ultrasound scree
ning at the second trimester. Amniocentesis and detailed ultrasound we
re then performed. Results: Totally 108 fetuses with choroid plexus cy
st(s) were available. Ten fetuses had chromosomal aberrations, includi
ng two trisomy 21, one mosaic trisomy 21, and seven trisomy 18. The ri
sks of trisomy 18 and Down syndrome in second-trimester fetuses with c
horoid plexus cyst(s) were 1:15.4 (7/108) and 1:36 (3/108), respective
ly. Conclusions: These data implicated that fetuses with choroid plexu
s cyst(s) are at high risk for aneuploidy, not only trisomy 18 but als
o Down syndrome.