Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe

Lancet. 1986 Jul 5;2(8497):6-8. doi: 10.1016/s0140-6736(86)92557-2.

Abstract

A highly polymorphic DNA probe genetically linked to the locus of autosomal dominant polycystic kidney disease was used in linkage studies for prenatal diagnosis in a nine-week fetus at risk for the disease. The fetus was judged to have inherited the polycystic kidney disease mutation, and this was confirmed by microscopic examination of the fetal kidneys at necropsy.

Publication types

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

MeSH terms

  • Abortion, Therapeutic
  • Adult
  • Alleles
  • Chorionic Villi / analysis
  • Chromosome Mapping
  • Chromosomes, Human, 16-18*
  • DNA / analysis*
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage
  • Genetic Markers
  • Globins / genetics
  • Humans
  • Male
  • Middle Aged
  • Polycystic Kidney Diseases / diagnosis*
  • Polycystic Kidney Diseases / genetics
  • Pregnancy
  • Prenatal Diagnosis*
  • Risk

Substances

  • Genetic Markers
  • Globins
  • DNA