Prenatal Diagnosis of Cystic Fibrosis

Methods Mol Biol. 2019:1885:221-231. doi: 10.1007/978-1-4939-8889-1_15.

Abstract

Cystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. CF can be diagnosed by many methods including testing for blood immunoreactive trypsin, sweat chloride, transepithelial nasal potential difference, and molecular genetic testing.

Keywords: Chronic pulmonary disease; Congenital bilateral absence or atrophy of the vas deferens; Cystic fibrosis; Mutation; Recessive.

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Genes, Recessive
  • Genetic Counseling
  • Genetic Testing* / methods
  • Genotyping Techniques
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation*
  • Prenatal Diagnosis / methods*
  • Sequence Analysis, DNA

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator