Carrier Screening for Cystic Fibrosis

Jeffrey S Dungan*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)47-59
Number of pages13
JournalObstetrics and Gynecology Clinics of North America
Volume37
Issue number1
DOIs
StatePublished - Mar 1 2010

Keywords

  • CFTR
  • Carrier testing
  • Cystic fibrosis
  • Mutation panel

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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