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- W2034996036 abstract "Cystic fibrosis (CF) is the most frequent, life limiting, autosomal recessive diseases in Caucasians. It is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Approximately 2000 mutations have been identified, of which ∼120 are responsible for the vast majority of disease cases [1].The last decade has seen the increasing application of two models of screening related to CF, newborn screening and community-wide carrier screening (carrier screening) [2, 3]. Newborn screening for CF has now been implemented in the majority of countries where CF is common, including North America, Australia and several parts of Europe [3]. Virtually all babies born in these places will have been screened and those diagnosed with CF will have access to early treatment. Carrier screening is less extensively used, but has been growing in acceptance, and it is offered to females or couples in the USA and in parts of Europe and Australia [2, 4]. In the USA carrier screening has been recommended by the American College of Obstetricians and Gynaecologists and by the American College of Medical Genetics [5, 6], and, although there is not an established public health programme, millions of carrier tests have been performed [7].Newborn and carrier screening for CF have different purposes, but also common features that may create some confusion among health practitioners as to their respective characteristics and goals.CF newborn screening is a complex procedure that uses multiple step combinations of tests on dried blood spots. The first tier is always a measurement of immunoreactive trypsinogen (IRT), followed in IRT-positive babies by other tests, which usually include mutation analysis of the CFTR gene. The aim is to identify neonates at high risk of having CF, these infants are …" @default.
- W2034996036 created "2016-06-24" @default.
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- W2034996036 date "2013-12-31" @default.
- W2034996036 modified "2023-09-26" @default.
- W2034996036 title "Newborn screening and carrier screening for cystic fibrosis: alternative or complementary?" @default.
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- W2034996036 doi "https://doi.org/10.1183/09031936.00125613" @default.
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