Prenatal diagnosis of cystic fibrosis

  • Anastasia M. Fedick
  • , Jinglan Zhang
  • , Lisa Edelmann
  • , Ruth Kornreich

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

6 Scopus citations

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.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages221-231
Number of pages11
DOIs
StatePublished - 2019

Publication series

NameMethods in Molecular Biology
Volume1885
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Keywords

  • Chronic pulmonary disease
  • Congenital bilateral absence or atrophy of the vas deferens
  • Cystic fibrosis
  • Mutation
  • Recessive

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