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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 μg/l. Such programmes require careful attention on mutations to be included in the screening panel.
CF is usually defined as the most frequent life-shortening autosomal recessive hereditary disease in the Caucasian population affecting from 1/2250 to 10 500 live births in Europe (median 1/3500). Children with classical CF present with chronic pulmonary obstruction and infections, leading to respiratory failure and pancreatic insufficiency (PI).5 The clinical diagnosis is usually confirmed by elevated sweat chloride values (≥60 mmol/l) and/or the identification of two CF-causing mutations. Apart from F508del, the most frequent severe CF-causing mutation, over 1600 mutations have been identified with …
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