Most pupular items http://www.cangenetest.org/ 2010-07-29T13:22:19-05:00 text/html 2010-07-05T18:27:14-05:00 http://www.cangenetest.org/ Thomas Eggermann, Matthias Begemann, Gerhard Binder and Sabrina Spengler http://www.cangenetest.org/url.php?i=1931&f=News Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. However, the clinical spectrum is broad and the clinical diagnosis often subjective. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical SRS features. text/html 2010-07-05T18:15:07-05:00 http://www.cangenetest.org/ http://www.cangenetest.org/url.php?i=1924&f=News This article reports results of a 2008 telephone survey of approximately 1,200 residents of the Province of Alberta, Canada. The goal was to explore attitudes and interest regarding different types of genetic tests. The principal motivator for interest in genetic testing was to learn clinically relevant details to inform health-related decisions. Curiosity about genetic risk had only a modest impact on consumer interest. text/html 2010-07-05T18:15:29-05:00 http://www.cangenetest.org/ http://www.cangenetest.org/url.php?i=1925&f=News Newborn screening for inherited disorders enables early identification of affected children and intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since 1962, most areas throughout the world have developed newborn screening (NBS) programmes including for more than 50 serious disorders.1 2 While most diseases are screened by biochemical techniques only, the NBS programme for cystic fibrosis (CF), which is being implemented in an increasing number of countries (USA, UK, Spain, France, Italy, Australia, Czech Republic, Poland …),3 4 relies on determination of immunoreactive trypsinemia (IRT) and subsequent screening for 30 common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene when IRT is above 65 ug/l. Such programmes require careful attention on mutations to be included in the screening panel. text/html 2010-07-05T18:32:42-05:00 http://www.cangenetest.org/ John Massie, Lisette Curnow, Lydia Gaffney, John Carlin, Ivan Francis http://www.cangenetest.org/url.php?i=1933&f=News The aim of this study was to assess the evidence for changes in the live-birth prevalence of cystic fibrosis (CF) since the introduction of newborn screening for CF. The authors observed a modest reduction in the live-birth prevalence of CF since the introduction of newborn screening. This is principally due to at-risk couples detected by newborn screening electing to use prenatal testing on subsequent pregnancies.