Choroid Plexus Cysts

Overview

Choroid Plexus Cysts are a common ultrasound finding during the 2nd trimester of pregnancy. To identify a choroid plexus cyst, it must be imaged in two orthogonal planes and be greater than or equal to 3 mm in size. In most instances, these are a normal variant. However, because many fetuses with chromosomal aneuploidy (primarily Trisomy 18, but also Trisomy 21) have been found to have choroid plexus cysts, this ultrasound finding indicates an increase in the risk that one of these chromosome abnormalities is present in the fetus. There is controversy regarding the magnitude of this risk. We do not feel that the risk is dependent on the number and laterality of the cysts. We estimate that the risk of Trisomy 18 or Trisomy 21 is approximately 1% when isolated choroid plexus cysts (of any number) are present. This risk is modified by factors such as maternal age, maternal serum screen results, and ultrasound findings. At present, however, there is no agreed-upon algorithm for combining these separate factors to determine an overall risk. Since abnormalities of the hands, feet, and heart are common in trisomy 18, we specifically mention in the ultrasound report that they have been evaluated.

Recommendations

We recommend that genetic counseling be provided for this finding. If, following genetic counseling, the patient chooses not to have amniocentesis and the initial ultrasound was performed prior to 17 weeks gestation, or if the anatomy was not well-visualized, we recommend a follow up ultrasound at 20-22 weeks gestation for evaluation of fetal anatomy and growth. The choroid plexus cysts usually resolve by the 3rd trimester of pregnancy (whether or not the fetus has a chromosome abnormality) and are not clinically significant. The follow up ultrasound is recommended solely as a means of better visualizing the anatomy and evaluation of possible IUGR to decrease the chance of aneuploidy.

References

  • Walkinshaw S., Pilling, D., Spriggs, A.. Isolated choroid plexus cysts - the need for routine offer of karyotyping of karyotyping. Prenatal Diagnosis 14: 663-667(1994).
  • Gratton R.J., Hogge, W.A., Aston, C.E.Choroid plexus cysts and trisomy 18: Risk modification based on maternal age and multiple-marker screening. Am. J. Obstet. Gynecol 175(6): 1493-1497 (1996).
  • Nadel, A.S., Bromley, B.S., Frigoletto, F.D., Estroff, J.A., Benacerraf, B.R.Isolated choroid plexus cysts in the second-trimester fetus: Is amniocentesis really indicated?. Radiology 185: 545-548 (1992).
  • Porto, M., Murata, Y., Warneke, L. A., Keegan, K.A. Fetal choroid plexus cysts: An independent risk factor for chromosome anomalies. J. Clin. Ultrasound 21:103-108 (1993).
  • Gross, S.J., Shulman, L.P., Tolley, E.A., Emerson, D.S., Felker, R.E., Simpson, J.L., Elias, S. Isolated fetal choroid plexus cysts and trisomy 18 : a review and meta-analysis. Am. J. Obstet. Gynecol. 172(1): 83-87 (1995).
  • Shields, L.E., Uhrich, S.B., Easterling, T.R., Cyr, D.R., Mack, L.A. Isolated fetal choroid plexus cysts and karyotype analysis: is it necessary? J. Ultrasound Med. 15(5):389-394 (1996).
  • Gray, D.L., Winborn, R.C., Suessen, T.L., Crane, J.P. Is genetic amniocentesis warranted when isolated choroid plexus cysts are found? Prenat. Diagnosis 16(11):983-990 (1996).