Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis
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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 populationbased 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 withCF 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.
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Montgomery, S.; Mall, M.; Kicic, Anthony; Stick, S. (2017)Copyright Â© ERS 2017. Cystic fibrosis is one of the most common autosomal recessive genetic diseases in Caucasian populations. Diagnosis via newborn screening and targeted nutritional and antibiotic therapy have improved ...
Stapleton, Denise; Kerr, Deborah; Sherriff, Jillian; Gurrin, L.; Sly, P. (2001)BACKGROUND: Many children with cystic fibrosis grow poorly and are malnourished. This study was undertaken to determine whether extensive anthropometry could detect early signs of malnutrition in prepubertal children with ...
Norman, Richard; Van Gool, K.; Hall, J.; Delatycki, M.; Massie, J. (2012)Background: Carrier screening for cystic fibrosis is not widely available in Australia, partly due to concerns regarding its cost-effectiveness. The benefit of information from pregnancy to pregnancy has not been widely ...