An update on cystic fibrosis screening

Katherine R. Goetzinger, Alison G. Cahill

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


Cystic fibrosis (CF) is a monogenic, autosomal recessive disorder, which ultimately leads to multisystem organ dysfunction and a subsequent decrease in life expectancy. Because of the sizeable number of disease causing mutations (>1000) and expansive ethnic and racial distribution, CF has presented a challenge for prenatal diagnosis. This article aims to review the genetics of CF, its spectrum of genotypic-phenotypic variations, current prenatal carrier screening and diagnostic recommendations, ultrasonographic markers of CF, and available reproductive options for carrier couples.

Original languageEnglish
Pages (from-to)533-543
Number of pages11
JournalClinics in Laboratory Medicine
Issue number3
StatePublished - Sep 2010


  • CFTR
  • Carrier screening
  • Cystic fibrosis
  • Pregnancy
  • Prenatal diagnosis

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