Fetal choroid plexus cysts in the second trimester of pregnancy: a cause for concern

Controversy surrounds the issue of recommending cytogenetic studies in second-trimester fetuses with fetal choroid plexus cysts. To assist in clarifying this issue, a prospective study was designed to describe the association between fetal choroid plexus cysts and aneuploidy in a large population. During a 3-year period 7350 women at 15 to 22 weeks' gestation underwent an ultrasonographic evaluation. Fetal choroid plexus cysts were diagnosed in 71 (0.96%) of these pregnancies. Sixty-two of the 71 patients elected to undergo amniocentesis. An abnormal karyotype was identified in four (6.4%) of these fetuses. One fetus had trisomy 21, and three fetuses were diagnosed with trisomy 18. These data indicate that it is reasonable to offer genetic counseling and cytogenetic studies in those patients identified as having a fetal choroid plexus cyst.