Prenatal fetoscopic diagnosis of the Apert syndrome

Am J Med Genet. 1982 Jan;11(1):5-9. doi: 10.1002/ajmg.1320110103.

Abstract

We report the prenatal diagnosis of the Apert syndrome by fetoscopy. The patient was a 22-year-old college student with this autosomal dominant form of acrocephalosyndactyly whose first pregnancy had resulted in a stillborn, affected infant. Fetoscopy at 17 weeks showed that she was carrying another affected fetus, and the pregnancy was terminated.

Publication types

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

MeSH terms

  • Acrocephalosyndactylia / diagnosis*
  • Acrocephalosyndactylia / genetics
  • Female
  • Fetoscopy*
  • Fetus / pathology
  • Genes, Dominant
  • Humans
  • Pregnancy
  • Pregnancy Complications / genetics
  • Prenatal Diagnosis*