Carrier screening for cystic fibrosis

Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents. doi: 10.1016/j.ogc.2010.02.002.


Cystic fibrosis is the first genetic disorder for which universal screening of preconceptional or prenatal patients became a component of standard prenatal care. The molecular genetics and mutation profile of the CFTR gene are complex, with a wide range of phenotypic consequences. Carrier screening can facilitate risk assessment for prospective parents to have an affected offspring, although there remains a small residual risk for carrying a mutation even with a negative screening result. There are ethnic differences with respect to disease incidence and effectiveness of carrier testing, which may complicate counseling.

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / prevention & control
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Genes, Recessive
  • Genetic Carrier Screening / methods*
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Incidence
  • Infant, Newborn
  • Male
  • Mutation
  • Neonatal Screening / methods
  • Pregnancy
  • Prenatal Diagnosis*


  • Cystic Fibrosis Transmembrane Conductance Regulator