Prenatal diagnosis of cystic fibrosis: 10-years experience

Pathol Biol (Paris). 2015 Jun;63(3):126-9. doi: 10.1016/j.patbio.2015.04.002. Epub 2015 May 20.


Purpose: We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population.

Patients and methods: Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination.

Results: Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%.

Conclusion: Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis.

Keywords: At risk couples; Contamination par les cellules maternelles; Couples à risque; Cystic fibrosis; Diagnostic prénatal; Maternal cell contamination; Mucoviscidose; Prenatal diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Eugenic
  • Alleles
  • Amniocentesis*
  • Arabs / genetics
  • Chorionic Villi Sampling* / adverse effects
  • Chromatography, High Pressure Liquid
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / embryology
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / analysis
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Diseases in Twins / diagnosis
  • Diseases in Twins / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Fetal Death / etiology
  • Genetic Counseling
  • Genotype
  • Humans
  • Male
  • Microsatellite Repeats
  • Pregnancy
  • Pregnancy, Twin
  • Retrospective Studies
  • Tunisia / epidemiology


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator