Prenatal screening for cystic fibrosis: Past, present and future

Carolyn S. Richards, Wayne W. Grody

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Prenatal screening for cystic fibrosis is reviewed. The disease, gene involved, molecular basis of disease, genotype/phenotype correlations and pilot trials are discussed, as well as historical perspectives, background and American College of Medical Genetics/American College of Obstetricians and Gynecologists recommendations. A number of complex challenges to the implementation of cystic fibrosis screening exist, including mutation testing of the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as laboratory and clinical issues. Current technologies for CFTR testing include reverse dot blots, amplification refractory mutation detection systems, oligonucleotide ligation assays, the Invade® assay and NanoChip® system. Emerging technologies are also considered, as well as quality assurance measures including analytical and clinical validation, reporting, residual risk calculations and prenatal diagnosis. An even greater challenge is clinical implementation, which focuses upon education and communication, choosing models, reporting, counseling and prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)49-62
Number of pages14
JournalExpert Review of Molecular Diagnostics
Issue number1
StatePublished - Jan 2004


  • ASO
  • ASR
  • CFTR
  • Cystic fibrosis
  • Genetic screening
  • Microarray
  • OLA

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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