title: Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.
abstract: Most babies with cystic fibrosis (CF) are born to parents who did not know they were carriers until their baby was diagnosed with CF, usually by newborn screening. It is only after the birth of their first child with CF that couples are offered genetic counselling and reproductive choices. Most use this information for prenatal testing of subsequent pregnancies. With the high uptake of first trimester screening for Down syndrome (80% in Victoria) most couples have had screening during the CF affected pregnancy. Yet screening for CF carrier status is available, costs are similar to that for Down syndrome screening and CF carrier screening only ever needs to be done once. Waiting for couples to have a baby with CF before they are identified as carriers denies them choice. A national policy on CF carrier screening in Australia, and determination to equitably fund such a programme, is required.
authors.affiliation: Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia. john.massie@rch.org.au
authors.forename: John
authors.initials: J
authors.lastname: Massie
authors.forename: Robin
authors.initials: R
authors.lastname: Forbes
authors.forename: Desiree
authors.initials: D
authors.lastname: Dusart
authors.forename: Agnes
authors.initials: A
authors.lastname: Bankier
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
mesh_terms: D000028:Abortion, Induced / Q000523:psychology; D001315:Australia; D002755:Choice Behavior; D015193:Chorionic Villi Sampling; D003362:Cost-Benefit Analysis; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000302:isolation & purification; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing; D006291:Health Policy; D006801:Humans; D007231:Infant, Newborn; D009152:Mutagenicity Tests; D015997:Neonatal Screening; D016742:Preconception Care; D011247:Pregnancy; D014739:Victoria
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator