title: Prenatal screening for cystic fibrosis: past, present and future.
abstract: 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 Invader 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.
authors.affiliation: Department of Molecular and Medical Genetics, DNA Diagnostic Laboratory, Oregon Health Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA. carolynr@bcm.tmc.edu, richarsu@ohsu.edu
authors.forename: Carolyn S
authors.initials: CS
authors.lastname: Richards
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis / Q000379:methods* / Q000639:trends*; D011786:Quality Control