Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

Hum Genet. 1987 May;76(1):5-10. doi: 10.1007/BF00283042.


Prenatal diagnosis was performed for 47 pregnancies with 1 in 4 risk of cystic fibrosis, including 7 cases analyzed with linked DNA markers, 16 cases analyzed by microvillar intestinal enzyme testing, and 24 cases where both methods of testing were attempted. DNA was obtained by chorionic villus sampling in 10 cases and by amniocentesis in 21 cases, and diagnosis was based on analysis with the tightly linked DNA markers D7S8 and met. DNA analysis using these probes was fully informative in 74.4% of 90 couples with 1 in 4 risk. In 18 cases where both DNA results and microvillar intestinal enzyme data were diagnostic, there was agreement regarding the predicted status of the fetus. No adequate diagnosis was achieved in two cases where both diagnostic tests were attempted. Outcome is known for 24 pregnancies including 10 where DNA analysis was diagnostic, and no errors in diagnosis were detected. Prenatal diagnosis of cystic fibrosis using DNA markers is highly informative and accurate, but microvillar intestinal enzyme analysis remains a valuable part of a complete diagnostic program.

MeSH terms

  • Alkaline Phosphatase / analysis
  • Amniotic Fluid / enzymology
  • Clinical Enzyme Tests*
  • Cystic Fibrosis / diagnosis*
  • DNA / genetics*
  • Diagnostic Errors
  • Female
  • Fetal Diseases / diagnosis
  • Genetic Linkage*
  • Genetic Markers*
  • Humans
  • Intestines / enzymology
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Risk


  • Genetic Markers
  • DNA
  • Alkaline Phosphatase