Fetal choroid plexus cysts and their association with aneuploidy

Abstract

Thirty-nine fetuses with choroid plexus cysts were studied prospectively. All had detailed sonography to detect other structural abnormalities, and either had fetal karyotyping or were examined at birth to detect chromosomal abnormalities. There were two fetuses with trisomy 21 and seven with trisomy 18. There were 31 fetuses with choroid plexus cysts alone, without other structural defects. The incidence of fetal aneuploidy in the fetuses with isolated choroid plexus cysts and those with other structural defects was 10 and 75 per cent respectively. No association between persistence of the cyst, cyst size or laterality and fetal aneuploidy was found. Fetal karyotyping may still be necessary for fetuses with choroid plexus cyst and no other structural abnormalities.