Isolated choroid plexus cyst(s): an indication for amniocentesis

Am J Obstet Gynecol. 1994 Oct;171(4):1068-71. doi: 10.1016/0002-9378(94)90037-x.


Objective: Our purpose was to prospectively evaluate the risk of chromosomal abnormalities associated with isolated choroid plexus cyst(s) in gravid women undergoing second-trimester ultrasonographic examination.

Study design: During a 24-month period 9100 pregnant women underwent midtrimester ultrasonographic evaluation. Women with a fetal diagnosis of choroid plexus cyst(s) were offered amniocentesis and a repeat examination in 4 to 6 weeks.

Results: A diagnosis of choroid plexus cyst(s) was made in 102 fetuses (1.1%). In four of these fetuses multiple congenital anomalies were noted. Three of the four fetuses had a chromosomal abnormality, two trisomy 18 and one unbalanced translocation, t(3;13). In the remaining 98 fetuses the choroid plexus cysts were isolated findings, that is, there were no other ultrasonographically detected anomalies. Seventy-five of these 98 fetuses underwent amniocentesis. An abnormal karyotype was identified in four fetuses: three had Down syndrome (two trisomy 21 and one unbalanced translocation, t[14;21]), and one trisomy 18. The offspring of the 23 patients in which amniocentesis was declined were phenotypically normal.

Conclusions: In our prospective study the risk of chromosomal abnormality with isolated choroid plexus cyst(s) was 1:25, a risk that exceeds the 1:200 risk of pregnancy loss after amniocentesis and the 1:126 and 1:260 risk for aneuploidy and Down syndrome, respectively, in a 35-year-old pregnant women during the midtrimester. These findings indicate that amniocentesis should be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s).

Publication types

  • Clinical Trial

MeSH terms

  • Adult
  • Amniocentesis*
  • Brain Diseases / complications
  • Brain Diseases / diagnostic imaging
  • Choroid Plexus*
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Cysts / complications
  • Cysts / diagnostic imaging*
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Prospective Studies
  • Risk
  • Ultrasonography, Prenatal