Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus

Hum Genet. 1992 May;89(3):301-4. doi: 10.1007/BF00220545.


Choroid plexus cysts were diagnosed in 25 out of 823 fetuses with prenatally diagnosed abnormalities (growth retardation/malformations). Among these, 5 revealed a chromosomal disorder (4 cases with trisomy 18 and one case with a translocation trisomy 21). Additional abnormalities, such as growth retardation, holoprosencephaly, hydrocephalus and club foot, were found in 6 out of the 20 fetuses with no chromosomal abnormality. All fetuses with a chromosomal disorder revealed further typical prenatally recognizable abnormalities. Our observation indicates that prenatally diagnosed choroid plexus cysts should be considered as an indication for prenatal chromosomal diagnosis, although the risk of there being an underlying chromosomal disorder is low in cases with no additional abnormalities.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple
  • Brain Diseases / diagnosis
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / genetics
  • Choroid Plexus*
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Cysts / diagnosis
  • Cysts / diagnostic imaging
  • Cysts / genetics*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Humans
  • Male
  • Prenatal Diagnosis*
  • Trisomy
  • Ultrasonography