Prenatal detection of the separation of the great toe, toe syndactyly, and large bilateral choroid plexus cysts in a fetus with trisomy 18

Am J Perinatol. 1996 May;13(4):203-5. doi: 10.1055/s-2007-994364.

Abstract

Prenatal sonographic presentation of toe deformities is associated with fetal aneuploidies. This report presents a second-trimester fetus with large bilateral choroid plexus cysts, clenched hands, separation of the great toe, toe syndactyly, abnormal double maternal serum biochemical screening results, and trisomy 18. We suggest a careful ultrasound screening of the fetal limbs and other organs once a choroid plexus cyst has been identified. If abnormal sonographic findings are present, or if the results of the maternal serum biochemical screening are abnormal, karyotyping should be recommended.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / diagnostic imaging
  • Adult
  • Chorionic Gonadotropin, beta Subunit, Human / analysis
  • Choroid Plexus / abnormalities*
  • Choroid Plexus / diagnostic imaging
  • Chromosomes, Human, Pair 18*
  • Cysts / diagnosis*
  • Cysts / diagnostic imaging
  • Female
  • Fetal Diseases / diagnosis
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*
  • Toes / abnormalities*
  • Trisomy*
  • Ultrasonography, Prenatal
  • alpha-Fetoproteins / analysis

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • alpha-Fetoproteins