A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study

Prenat Diagn. 1999 May;19(5):405-10.


A prospective multicentre study was performed to identify patients with fetal choroid plexus cysts and examine the association between choroid plexus cysts and chromosome abnormalities in the context of variables such as maternal age, serum triple-screen results, race, other prenatally-identified fetal anomalies and cyst characteristics. A total of 18 437 scans were performed in 5 centres and 257 fetuses were identified with choroid plexus cysts. Outcome was available on 250 patients, and of these, chromosomal abnormalities were detected in a total of 13 (5.2 per cent) fetuses. 26 patients in the group had additional ultrasound abnormalities, and 8 of these had fetal chromosome abnormalities. Among the 224 patients with isolated choroid plexus cysts, 5 (2.2 per cent) were found to have chromosomal abnormalities. All cases with identified chromosomal abnormalities were associated with an additional risk factor, such as other ultrasound findings, advanced maternal age or abnormal maternal serum triple-screen results.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Aneuploidy
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / genetics*
  • Choroid Plexus / diagnostic imaging*
  • Chromosome Aberrations / blood
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Cysts / diagnostic imaging
  • Cysts / genetics*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Humans
  • North Carolina
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis*
  • Prospective Studies
  • Ultrasonography, Prenatal