Prenatal screening for cystic fibrosis

Carolyn S. Richards, James E. Haddow

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


This article focuses on essential components related to prenatal screening for cystic fibrosis, including the clinical disease, inheritance, prognosis and treatment, birth prevalence, and ethnic variability. The molecular basis of this disease is presented, including a discussion of the gene, mutations, and genotype/phenotype correlations. The models that have been used for delivering prenatal screening services in pilot trials are described, along with lessons learned, expected screening performance, and relevant ELSI considerations. A realistic view of laboratory issues is considered, including current standards of performance, guidelines and oversight, and quality assurance. Examples of current laboratory technologies for cystic fibrosis testing are displayed.

Original languageEnglish (US)
Pages (from-to)503-530
Number of pages28
JournalClinics in Laboratory Medicine
Issue number2
StatePublished - Jun 2003
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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