First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes

Lancet. 1986 Jun 21;1(8495):1402-5. doi: 10.1016/s0140-6736(86)91553-9.


Linkage analysis with cloned gene probes has shown that the mutation causing cystic fibrosis is located in the middle of the long arm of chromosome 7. First-trimester diagnosis of cystic fibrosis is reported in four informative families and second-trimester diagnosis in one family with fetal DNA prepared from chorionic villi, hybridised with the tightly linked DNA probes, pJ3.11 and met. Risk calculations show that the expected false-negative and false-positive rates are approximately 2% and 6%, respectively, for typical nuclear families with one affected living child. Existing probes are sufficiently informative to allow full diagnosis in about two-thirds of couples presenting with at least one affected child. In half of the remainder, the inheritance of one parental mutant chromosome can be deduced.

Publication types

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

MeSH terms

  • Biopsy
  • Chorionic Villi / pathology
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • DNA / genetics*
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Genotype
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*


  • Genetic Markers
  • DNA