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Title: Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
Austin Authors: Delatycki, Martin B ;Burke, Jo;Christie, Louise;Collins, Felicity;Gabbett, Michael;George, Peter;Haan, Eric;Ioannou, Liane;Martin, Nicole;McKenzie, Fiona;O'Leary, Peter;Scoble-Williams, Nicole;Turner, Gillian;Massie, John
Institutional Author: Human Genetics Society of Australasia
Affiliation: Queensland Fertility Group,Brisbane,Queensland,Australia
Murdoch Childrens Research Institute,Melbourne,Victoria,Australia
South Australian Clinical Genetics Service,SA Pathology (at Women's and Children's Hospital), andUniversity of Adelaide,School of Paediatrics and Reproductive Health,Adelaide,South Australia,Australia
Genetic Health Queensland and The University of Queensland,Brisbane,Queensland,Australia
Clinical Genetics,The Children's Hospital at Westmead,Sydney,New South Wales,Australia
Hunter Genetics,Newcastle,New South Wales,Australia
Tasmanian Clinical Genetics Services,Hobart,Tasmania,Australia
Genetic Services of Western Australia,Perth,Western Australia,Australia
Clinical Genetics,Austin Health,Melbourne,Victoria,Australia
University of Newcastle,Newcastle,New South WalesAustralia
IVF Australia,Bondi Junction,New South Wales,Australia
Curtin University,Bentley,Western Australia,Australia
University of Otago,Christchurch,New Zealand.
Issue Date: 1-Dec-2014
Publication information: Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies; 17(6): 578-83
Abstract: Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.
Gov't Doc #: 25431289
DOI: 10.1017/thg.2014.65
Journal: Twin research and human genetics : the official journal of the International Society for Twin Studies
Type: Journal Article
Subjects: Cystic Fibrosis.genetics
Cystic Fibrosis Transmembrane Conductance Regulator.genetics
Diseases in Twins.genetics
Heterozygote Detection
Appears in Collections:Journal articles

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