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Prenatal Diagnosis of Cystic Fibrosis

Anastasia M Fedick1,2, Jinglan Zhang3, Lisa Edelmann1,2

  • 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Methods in Molecular Biology (Clifton, N.J.)
|December 4, 2018
PubMed

Insights

Cystic fibrosis (CF) is an inherited disorder causing thick mucus buildup, leading to organ damage and common symptoms like lung and digestive issues. Diagnosis involves methods such as sweat chloride tests and genetic testing.

Area of Science:

  • Genetics and Molecular Biology
  • Pulmonology
  • Gastroenterology

Background:

  • Cystic fibrosis (CF) is a genetic disorder characterized by the accumulation of thick, sticky mucus.
  • This mucus buildup damages epithelial tissues in multiple organs, including the lungs, pancreas, liver, and intestines.
  • The most frequent clinical manifestations are sinopulmonary disease and chronic gastrointestinal problems.

Purpose of the Study:

  • To provide a comprehensive overview of cystic fibrosis.
  • To highlight the key characteristics, symptoms, and diagnostic approaches for CF.

Main Methods:

  • Review of existing literature on cystic fibrosis.
  • Description of common diagnostic techniques for CF.

Main Results:

  • CF is the most prevalent life-limiting autosomal recessive disorder in specific populations.
  • Symptoms arise from decreased mucociliary clearance and inflammation.
  • Diagnostic methods include blood immunoreactive trypsin, sweat chloride testing, transepithelial nasal potential difference, and molecular genetic testing.

Conclusions:

  • Cystic fibrosis is a multi-organ disease requiring diverse diagnostic strategies.
  • Early and accurate diagnosis is crucial for managing CF and its complications.

Keywords:
Chronic pulmonary diseaseCongenital bilateral absence or atrophy of the vas deferensCystic fibrosisMutationRecessive

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