Carrier screening for cystic fibrosis.
Cystic fibrosis is the first genetic disorder for which universal screening of preconceptional or prenatal patients became a component of standard prenatal care. The molecular genetics and mutation profile of the CFTR gene are complex, with a wide range of phenotypic consequences. Carrier screening can facilitate risk assessment for prospective parents to have an affected offspring, although there remains a small residual risk for carrying a mutation even with a negative screening result. There are ethnic differences with respect to disease incidence and effectiveness of carrier testing, which may complicate counseling.
Dungan
Jeffrey S
JS
Division of Clinical Genetics, Department of Obstetrics & Gynecology, Northwestern University Feinberg School of Medicine, 250 East Superior Street, 05-2168, Chicago, IL 60611, USA. jdungan@nmh.org
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis
D019005:Cystic Fibrosis Transmembrane Conductance Regulator