First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers

Prenat Diagn. 1998 May;18(5):504-6.

Abstract

We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ellis-Van Creveld Syndrome / diagnosis*
  • Ellis-Van Creveld Syndrome / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Gestational Age*
  • Heterozygote
  • Humans
  • Microsatellite Repeats*
  • Pedigree
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal

Substances

  • Genetic Markers