Prenatal screening for cystic fibrosis.
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.
Richards
Carolyn S
CS
Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030-6182, USA. carolynr@bcm.tmc.edu
Haddow
James E
JE
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis